CleftGeneDB-Search

Gene: AP2B1

Basic information

Tag	Content
Uniprot ID	P63010; A6NJP3; P21851; Q7Z451; Q96J19;
Entrez ID	163
Genbank protein ID	AAQ20044.1; AAA35583.1; AAH06201.1; EAW80133.1; EAW80139.1;
Genbank nucleotide ID	XM_017024284.1; XM_011524455.2; NM_001282.2; XM_017024286.1; XM_005257938.2; XM_005257937.3; NM_001030006.1;
Ensembl protein ID	ENSP00000483185; ENSP00000482315; ENSP00000482835;
Ensembl nucleotide ID	ENSG00000006125
Gene name	AP-2 complex subunit beta
Gene symbol	AP2B1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.
Sequence	MTDSKYFTTN KKGEIFELKA ELNNEKKEKR KEAVKKVIAA MTVGKDVSSL FPDVVNCMQT 60 DNLELKKLVY LYLMNYAKSQ PDMAIMAVNS FVKDCEDPNP LIRALAVRTM GCIRVDKITE 120 YLCEPLRKCL KDEDPYVRKT AAVCVAKLHD INAQMVEDQG FLDSLRDLIA DSNPMVVANA 180 VAALSEISES HPNSNLLDLN PQNINKLLTA LNECTEWGQI FILDCLSNYN PKDDREAQSI 240 CERVTPRLSH ANSAVVLSAV KVLMKFLELL PKDSDYYNML LKKLAPPLVT LLSGEPEVQY 300 VALRNINLIV QKRPEILKQE IKVFFVKYND PIYVKLEKLD IMIRLASQAN IAQVLAELKE 360 YATEVDVDFV RKAVRAIGRC AIKVEQSAER CVSTLLDLIQ TKVNYVVQEA IVVIRDIFRK 420 YPNKYESIIA TLCENLDSLD EPDARAAMIW IVGEYAERID NADELLESFL EGFHDESTQV 480 QLTLLTAIVK LFLKKPSETQ ELVQQVLSLA TQDSDNPDLR DRGYIYWRLL STDPVTAKEV 540 VLSEKPLISE ETDLIEPTLL DELICHIGSL ASVYHKPPNA FVEGSHGIHR KHLPIHHGST 600 DAGDSPVGTT TATNLEQPQV IPSQGDLLGD LLNLDLGPPV NVPQVSSMQM GAVDLLGGGL 660 DSLVGQSFIP SSVPATFAPS PTPAVVSSGL NDLFELSTGI GMAPGGYVAP KAVWLPAVKA 720 KGLEISGTFT HRQGHIYMEM NFTNKALQHM TDFAIQFNKN SFGVIPSTPL AIHTPLMPNQ 780 SIDVSLPLNT LGPVMKMEPL NNLQVAVKNN IDVFYFSCLI PLNVLFVEDG KMERQVFLAT 840 WKDIPNENEL QFQIKECHLN ADTVSSKLQN NNVYTIAKRN VEGQDMLYQS LKLTNGIWIL 900 AELRIQPGNP NYTLSLKCRA PEVSQYIYQV YDSILKN 937

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1E42
2G30
2IV8
2IV9
2JKR
2JKT
2VGL
2XA7
4UQI
5M5R
6QH5
6QH6
6QH7
2G30
2JKR
2VGL
4UQI

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	AP2B1	480605	E2RIV1			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	AP2B1		A0A452F9H3			Capra hircus	Prediction	More>>
1:1 ortholog	AP2B1	163	P63010			Homo sapiens	Prediction	More>>
1:1 ortholog	Ap2b1	71770	Q9DBG3	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	AP2B1	454587	K7CXZ7			Pan troglodytes	Prediction	More>>
1:1 ortholog	AP2B1		A0A480V5W1			Sus scrofa	Prediction	More>>
1:1 ortholog	AP2B1	100347007	G1SL02			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Ap2b1	140670	P62944			Rattus norvegicus	Prediction	More>>
1:1 ortholog	ap2b1		E9QC84			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs774327541	p.Thr2Ile	missense variant	-	NC_000017.11:g.35594035C>T	ExAC,gnomAD
rs896314463	p.Asp3Gly	missense variant	-	NC_000017.11:g.35594038A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp3Ala	missense variant	-	NC_000017.11:g.35594038A>C	NCI-TCGA
rs1455592958	p.Lys5Arg	missense variant	-	NC_000017.11:g.35594044A>G	TOPMed,gnomAD
rs761290352	p.Asn10Ile	missense variant	-	NC_000017.11:g.35594059A>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly13Ter	stop gained	-	NC_000017.11:g.35594067G>T	NCI-TCGA
NCI-TCGA novel	p.Glu14Ter	stop gained	-	NC_000017.11:g.35598232G>T	NCI-TCGA
NCI-TCGA novel	p.Glu21Asp	missense variant	-	NC_000017.11:g.35598255A>T	NCI-TCGA
NCI-TCGA novel	p.Lys27Thr	missense variant	-	NC_000017.11:g.35598272A>C	NCI-TCGA
NCI-TCGA novel	p.Arg30GluPheSerTerUnk	frameshift	-	NC_000017.11:g.35598279G>-	NCI-TCGA
NCI-TCGA novel	p.Arg30Ile	missense variant	-	NC_000017.11:g.35598281G>T	NCI-TCGA
rs1438126887	p.Lys31Arg	missense variant	-	NC_000017.11:g.35598284A>G	gnomAD
NCI-TCGA novel	p.Ala40Asp	missense variant	-	NC_000017.11:g.35598311C>A	NCI-TCGA
rs1165855428	p.Met41Val	missense variant	-	NC_000017.11:g.35598313A>G	gnomAD
rs770755535	p.Val43Met	missense variant	-	NC_000017.11:g.35598319G>A	ExAC,TOPMed,gnomAD
rs776332490	p.Asp46Glu	missense variant	-	NC_000017.11:g.35598330T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser49Tyr	missense variant	-	NC_000017.11:g.35605707C>A	NCI-TCGA
rs370502932	p.Leu50Val	missense variant	-	NC_000017.11:g.35605709C>G	ESP,ExAC,TOPMed,gnomAD
rs1476009928	p.Phe51Leu	missense variant	-	NC_000017.11:g.35605712T>C	gnomAD
NCI-TCGA novel	p.Pro52Ser	missense variant	-	NC_000017.11:g.35605715C>T	NCI-TCGA
NCI-TCGA novel	p.Pro52Ala	missense variant	-	NC_000017.11:g.35605715C>G	NCI-TCGA
rs575183143	p.Asp53Glu	missense variant	-	NC_000017.11:g.35605720C>A	ExAC,TOPMed,gnomAD
rs1422145750	p.Val54Ile	missense variant	-	NC_000017.11:g.35605721G>A	gnomAD
NCI-TCGA novel	p.Met74Leu	missense variant	-	NC_000017.11:g.35605781A>T	NCI-TCGA
rs752585201	p.Ser79Asn	missense variant	-	NC_000017.11:g.35605797G>A	ExAC,gnomAD
rs758253002	p.Met83Val	missense variant	-	NC_000017.11:g.35605808A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala84Val	missense variant	-	NC_000017.11:g.35605812C>T	NCI-TCGA
rs1005166885	p.Met86Ile	missense variant	-	NC_000017.11:g.35605819G>A	-
NCI-TCGA novel	p.Ala87Ser	missense variant	-	NC_000017.11:g.35605820G>T	NCI-TCGA
rs746875747	p.Lys93Arg	missense variant	-	NC_000017.11:g.35605839A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp94Tyr	missense variant	-	NC_000017.11:g.35608142G>T	NCI-TCGA
rs751564830	p.Asp97Tyr	missense variant	-	NC_000017.11:g.35608151G>T	ExAC,gnomAD
rs1413705125	p.Pro98Thr	missense variant	-	NC_000017.11:g.35608154C>A	TOPMed
rs1231191557	p.Arg103Ter	stop gained	-	NC_000017.11:g.35608169C>T	gnomAD
rs757180229	p.Arg103Gln	missense variant	-	NC_000017.11:g.35608170G>A	ExAC,gnomAD
rs1239857349	p.Val107Ile	missense variant	-	NC_000017.11:g.35608181G>A	gnomAD
NCI-TCGA novel	p.Cys112Ser	missense variant	-	NC_000017.11:g.35608196T>A	NCI-TCGA
NCI-TCGA novel	p.Arg114Gln	missense variant	-	NC_000017.11:g.35608203G>A	NCI-TCGA
rs1196142328	p.Cys123Gly	missense variant	-	NC_000017.11:g.35608229T>G	gnomAD
rs1026818842	p.Pro125Leu	missense variant	-	NC_000017.11:g.35608236C>T	TOPMed,gnomAD
rs142074091	p.Leu126Phe	missense variant	-	NC_000017.11:g.35608238C>T	1000Genomes
rs1249030356	p.Arg127His	missense variant	-	NC_000017.11:g.35608242G>A	TOPMed
rs1400984122	p.Arg127Cys	missense variant	-	NC_000017.11:g.35608241C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro135Ser	missense variant	-	NC_000017.11:g.35608265C>T	NCI-TCGA
NCI-TCGA novel	p.Arg138Gln	missense variant	-	NC_000017.11:g.35608275G>A	NCI-TCGA
rs1280937938	p.Ala142Thr	missense variant	-	NC_000017.11:g.35608286G>A	TOPMed
rs773576208	p.Val145Leu	missense variant	-	NC_000017.11:g.35608295G>T	ExAC,TOPMed,gnomAD
rs773576208	p.Val145Leu	missense variant	-	NC_000017.11:g.35608295G>C	ExAC,TOPMed,gnomAD
rs773576208	p.Val145Met	missense variant	-	NC_000017.11:g.35608295G>A	ExAC,TOPMed,gnomAD
rs1307498129	p.Ala146Thr	missense variant	-	NC_000017.11:g.35608298G>A	gnomAD
rs1387061715	p.His149Arg	missense variant	-	NC_000017.11:g.35608308A>G	gnomAD
rs1265299702	p.Asp150Gly	missense variant	-	NC_000017.11:g.35608311A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp150Val	missense variant	-	NC_000017.11:g.35608311A>T	NCI-TCGA
rs751440438	p.Ile151Thr	missense variant	-	NC_000017.11:g.35608314T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile151Val	missense variant	-	NC_000017.11:g.35608313A>G	NCI-TCGA
rs534967720	p.Asn152Ser	missense variant	-	NC_000017.11:g.35608317A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val156Ala	missense variant	-	NC_000017.11:g.35608329T>C	NCI-TCGA
NCI-TCGA novel	p.Gln159His	missense variant	-	NC_000017.11:g.35608339G>T	NCI-TCGA
NCI-TCGA novel	p.Ser164Tyr	missense variant	-	NC_000017.11:g.35608353C>A	NCI-TCGA
rs963954568	p.Leu165Val	missense variant	-	NC_000017.11:g.35608355C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Arg166Trp	missense variant	-	NC_000017.11:g.35608358C>T	NCI-TCGA
rs750326789	p.Ile169Val	missense variant	-	NC_000017.11:g.35608367A>G	ExAC,gnomAD
rs1320904577	p.Asp171Gly	missense variant	-	NC_000017.11:g.35608374A>G	TOPMed,gnomAD
rs1367805694	p.Pro174Ser	missense variant	-	NC_000017.11:g.35608382C>T	gnomAD
NCI-TCGA novel	p.Met175Val	missense variant	-	NC_000017.11:g.35608385A>G	NCI-TCGA
rs781759240	p.Val176Leu	missense variant	-	NC_000017.11:g.35624397G>C	ExAC,gnomAD
rs1479558274	p.Ala180Val	missense variant	-	NC_000017.11:g.35624410C>T	gnomAD
rs180860333	p.Val181Ile	missense variant	-	NC_000017.11:g.35624412G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775788814	p.Ala182Thr	missense variant	-	NC_000017.11:g.35624415G>A	ExAC,gnomAD
rs763030515	p.Ala182Val	missense variant	-	NC_000017.11:g.35624416C>T	ExAC,gnomAD
rs1412742494	p.Glu186Lys	missense variant	-	NC_000017.11:g.35624427G>A	TOPMed
rs1396803580	p.Ile187Met	missense variant	-	NC_000017.11:g.35624432C>G	TOPMed
rs1467176849	p.Ser188Thr	missense variant	-	NC_000017.11:g.35624434G>C	gnomAD
rs771928156	p.Ser194Gly	missense variant	-	NC_000017.11:g.35624451A>G	ExAC,gnomAD
rs760436832	p.Asn195Ser	missense variant	-	NC_000017.11:g.35624455A>G	ExAC,TOPMed,gnomAD
rs760436832	p.Asn195Ile	missense variant	-	NC_000017.11:g.35624455A>T	ExAC,TOPMed,gnomAD
rs772846719	p.Asn195Asp	missense variant	-	NC_000017.11:g.35624454A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile204Asn	missense variant	-	NC_000017.11:g.35624482T>A	NCI-TCGA
rs764666800	p.Ala210Gly	missense variant	-	NC_000017.11:g.35624500C>G	ExAC,gnomAD
rs751918992	p.Ile220Val	missense variant	-	NC_000017.11:g.35624529A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile222Phe	missense variant	-	NC_000017.11:g.35624535A>T	NCI-TCGA
rs757684565	p.Ile222Val	missense variant	-	NC_000017.11:g.35624535A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp224His	missense variant	-	NC_000017.11:g.35624541G>C	NCI-TCGA
rs1254967077	p.Asn228Ser	missense variant	-	NC_000017.11:g.35624554A>G	TOPMed
rs1248410459	p.Asn230Ser	missense variant	-	NC_000017.11:g.35624560A>G	TOPMed,gnomAD
rs927997306	p.Asp234Val	missense variant	-	NC_000017.11:g.35624572A>T	TOPMed,gnomAD
rs779952468	p.Arg235Gln	missense variant	-	NC_000017.11:g.35624575G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg235Trp	missense variant	-	NC_000017.11:g.35624574C>T	NCI-TCGA
rs749559407	p.Glu236Gly	missense variant	-	NC_000017.11:g.35624578A>G	ExAC,gnomAD
rs1159595674	p.Gln238Arg	missense variant	-	NC_000017.11:g.35624584A>G	gnomAD
NCI-TCGA novel	p.Gln238His	missense variant	-	NC_000017.11:g.35624585G>C	NCI-TCGA
rs375608434	p.Ser239Ile	missense variant	-	NC_000017.11:g.35624587G>T	ESP,ExAC,TOPMed,gnomAD
rs368666592	p.Ile240Val	missense variant	-	NC_000017.11:g.35626622A>G	ESP,ExAC,gnomAD
rs775484633	p.Arg243Gln	missense variant	-	NC_000017.11:g.35626632G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro246Thr	missense variant	-	NC_000017.11:g.35626640C>A	NCI-TCGA
rs1271504512	p.Ala259Val	missense variant	-	NC_000017.11:g.35626680C>T	gnomAD
NCI-TCGA novel	p.Glu268Gln	missense variant	-	NC_000017.11:g.35626706G>C	NCI-TCGA
rs1170787476	p.Pro271Ser	missense variant	-	NC_000017.11:g.35626715C>T	gnomAD
NCI-TCGA novel	p.Asp273Asn	missense variant	-	NC_000017.11:g.35626721G>A	NCI-TCGA
rs1335913117	p.Asn278Asp	missense variant	-	NC_000017.11:g.35626736A>G	TOPMed,gnomAD
rs1294246855	p.Met279Val	missense variant	-	NC_000017.11:g.35626739A>G	TOPMed
rs1048534213	p.Leu280Val	missense variant	-	NC_000017.11:g.35626742C>G	TOPMed
rs1359473343	p.Lys282Asn	missense variant	-	NC_000017.11:g.35626750G>T	gnomAD
rs371706064	p.Leu284Ser	missense variant	-	NC_000017.11:g.35626755T>C	ESP,ExAC,TOPMed,gnomAD
rs1300943228	p.Ala285Ser	missense variant	-	NC_000017.11:g.35626757G>T	TOPMed,gnomAD
rs1307364903	p.Pro286Leu	missense variant	-	NC_000017.11:g.35626761C>T	gnomAD
rs750861510	p.Val289Ile	missense variant	-	NC_000017.11:g.35626769G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr290Asn	missense variant	-	NC_000017.11:g.35626773C>A	NCI-TCGA
rs761083349	p.Leu292Pro	missense variant	-	NC_000017.11:g.35626779T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser293Phe	missense variant	-	NC_000017.11:g.35626782C>T	NCI-TCGA
NCI-TCGA novel	p.Glu297Lys	missense variant	-	NC_000017.11:g.35626793G>A	NCI-TCGA
rs1040111727	p.Ala302Ser	missense variant	-	NC_000017.11:g.35626808G>T	TOPMed
rs1208472809	p.Leu308Val	missense variant	-	NC_000017.11:g.35626826T>G	gnomAD
NCI-TCGA novel	p.Gln311His	missense variant	-	NC_000017.11:g.35626837G>C	NCI-TCGA
rs1279319092	p.Gln319Ter	stop gained	-	NC_000017.11:g.35627401C>T	TOPMed
rs768667063	p.Gln319Arg	missense variant	-	NC_000017.11:g.35627402A>G	ExAC,TOPMed,gnomAD
rs778942254	p.Glu320Ala	missense variant	-	NC_000017.11:g.35627405A>C	ExAC,gnomAD
rs1166701445	p.Ile321Met	missense variant	-	NC_000017.11:g.35627409C>G	gnomAD
NCI-TCGA novel	p.Val326Leu	missense variant	-	NC_000017.11:g.35627422G>T	NCI-TCGA
rs1382707690	p.Lys327Asn	missense variant	-	NC_000017.11:g.35627427G>C	gnomAD
rs771708181	p.Asn329Ser	missense variant	-	NC_000017.11:g.35627432A>G	ExAC
rs373073122	p.Tyr333Cys	missense variant	-	NC_000017.11:g.35627444A>G	ESP,TOPMed,gnomAD
rs373073122	p.Tyr333Phe	missense variant	-	NC_000017.11:g.35627444A>T	ESP,TOPMed,gnomAD
rs201391290	p.Asp340Gly	missense variant	-	NC_000017.11:g.35627465A>G	1000Genomes
rs1284430403	p.Ile341Val	missense variant	-	NC_000017.11:g.35627467A>G	gnomAD
rs200611678	p.Ile341Thr	missense variant	-	NC_000017.11:g.35627468T>C	1000Genomes
NCI-TCGA novel	p.Met342Val	missense variant	-	NC_000017.11:g.35627470A>G	NCI-TCGA
NCI-TCGA novel	p.Arg344Cys	missense variant	-	NC_000017.11:g.35627476C>T	NCI-TCGA
NCI-TCGA novel	p.Arg344Gly	missense variant	-	NC_000017.11:g.35627476C>G	NCI-TCGA
rs765747346	p.Gln348His	missense variant	-	NC_000017.11:g.35627490A>T	ExAC,gnomAD
rs775909100	p.Ala349Ser	missense variant	-	NC_000017.11:g.35627491G>T	ExAC,gnomAD
rs763086165	p.Ala349Asp	missense variant	-	NC_000017.11:g.35627492C>A	ExAC,gnomAD
rs775909100	p.Ala349Thr	missense variant	-	NC_000017.11:g.35627491G>A	ExAC,gnomAD
rs763086165	p.Ala349Val	missense variant	-	NC_000017.11:g.35627492C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn350Asp	missense variant	-	NC_000017.11:g.35627494A>G	NCI-TCGA
NCI-TCGA novel	p.Asn350Thr	missense variant	-	NC_000017.11:g.35627495A>C	NCI-TCGA
rs757468439	p.Ile351Val	missense variant	-	NC_000017.11:g.35627497A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala352Val	missense variant	-	NC_000017.11:g.35627501C>T	NCI-TCGA
NCI-TCGA novel	p.Gln353His	missense variant	-	NC_000017.11:g.35627505G>T	NCI-TCGA
NCI-TCGA novel	p.Val354Ile	missense variant	-	NC_000017.11:g.35627631G>A	NCI-TCGA
rs1286379240	p.Ala356Thr	missense variant	-	NC_000017.11:g.35627637G>A	TOPMed
rs1404738425	p.Arg371Ter	stop gained	-	NC_000017.11:g.35627682C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala381Val	missense variant	-	NC_000017.11:g.35627713C>T	NCI-TCGA
rs1301553798	p.Glu389Asp	missense variant	-	NC_000017.11:g.35636352G>C	TOPMed
rs1374169851	p.Arg390His	missense variant	-	NC_000017.11:g.35636354G>A	gnomAD
NCI-TCGA novel	p.Arg390Cys	missense variant	-	NC_000017.11:g.35636353C>T	NCI-TCGA
rs780964830	p.Thr401Ile	missense variant	-	NC_000017.11:g.35636387C>T	ExAC,gnomAD
rs932574938	p.Asn404Thr	missense variant	-	NC_000017.11:g.35636396A>C	TOPMed
NCI-TCGA novel	p.Asn404Lys	missense variant	-	NC_000017.11:g.35636397T>G	NCI-TCGA
rs912726039	p.Ile417Val	missense variant	-	NC_000017.11:g.35636434A>G	TOPMed
NCI-TCGA novel	p.Arg419His	missense variant	-	NC_000017.11:g.35636441G>A	NCI-TCGA
rs769169713	p.Lys424Arg	missense variant	-	NC_000017.11:g.35636456A>G	ExAC,gnomAD
rs1309818925	p.Tyr425Phe	missense variant	-	NC_000017.11:g.35639597A>T	gnomAD
NCI-TCGA novel	p.Tyr425Cys	missense variant	-	NC_000017.11:g.35639597A>G	NCI-TCGA
NCI-TCGA novel	p.Ile428Met	missense variant	-	NC_000017.11:g.35639607C>G	NCI-TCGA
rs964975378	p.Thr431Ala	missense variant	-	NC_000017.11:g.35639614A>G	TOPMed
NCI-TCGA novel	p.Glu434Asp	missense variant	-	NC_000017.11:g.35639625G>T	NCI-TCGA
rs779631571	p.Arg445Gly	missense variant	-	NC_000017.11:g.35639656C>G	ExAC,gnomAD
rs779631571	p.Arg445Ter	stop gained	-	NC_000017.11:g.35639656C>T	ExAC,gnomAD
rs749663219	p.Ala446Ser	missense variant	-	NC_000017.11:g.35639659G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly453Arg	missense variant	-	NC_000017.11:g.35639680G>A	NCI-TCGA
rs1179054320	p.Glu457Gly	missense variant	-	NC_000017.11:g.35639693A>G	TOPMed,gnomAD
rs779536706	p.Glu457Lys	missense variant	-	NC_000017.11:g.35639692G>A	ExAC,gnomAD
rs1156280579	p.Ala462Thr	missense variant	-	NC_000017.11:g.35639707G>A	gnomAD
NCI-TCGA novel	p.Glu464Lys	missense variant	-	NC_000017.11:g.35639713G>A	NCI-TCGA
NCI-TCGA novel	p.Leu465Phe	missense variant	-	NC_000017.11:g.35639718A>C	NCI-TCGA
NCI-TCGA novel	p.Glu467Gln	missense variant	-	NC_000017.11:g.35639722G>C	NCI-TCGA
NCI-TCGA novel	p.His474Tyr	missense variant	-	NC_000017.11:g.35639743C>T	NCI-TCGA
rs773459580	p.Ser477Asn	missense variant	-	NC_000017.11:g.35639753G>A	ExAC,gnomAD
rs976327787	p.Ser477Gly	missense variant	-	NC_000017.11:g.35639752A>G	gnomAD
rs777052577	p.Ile488Val	missense variant	-	NC_000017.11:g.35641901A>G	ExAC
rs774044212	p.Pro496Leu	missense variant	-	NC_000017.11:g.35641926C>T	ExAC,gnomAD
rs768536257	p.Pro496Ser	missense variant	-	NC_000017.11:g.35641925C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser497Leu	missense variant	-	NC_000017.11:g.35641929C>T	NCI-TCGA
rs761618935	p.Glu498Gly	missense variant	-	NC_000017.11:g.35641932A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln500Arg	missense variant	-	NC_000017.11:g.35641938A>G	NCI-TCGA
rs1277882629	p.Glu501Asp	missense variant	-	NC_000017.11:g.35641942G>T	TOPMed
NCI-TCGA novel	p.Glu501Lys	missense variant	-	NC_000017.11:g.35641940G>A	NCI-TCGA
NCI-TCGA novel	p.Val503Ile	missense variant	-	NC_000017.11:g.35641946G>A	NCI-TCGA
NCI-TCGA novel	p.Gln505Ter	stop gained	-	NC_000017.11:g.35641952C>T	NCI-TCGA
NCI-TCGA novel	p.Leu507Phe	missense variant	-	NC_000017.11:g.35641960G>C	NCI-TCGA
NCI-TCGA novel	p.Ser514Tyr	missense variant	-	NC_000017.11:g.35650534C>A	NCI-TCGA
NCI-TCGA novel	p.Pro517Arg	missense variant	-	NC_000017.11:g.35650543C>G	NCI-TCGA
NCI-TCGA novel	p.Pro517Leu	missense variant	-	NC_000017.11:g.35650543C>T	NCI-TCGA
rs776030560	p.Leu519Val	missense variant	-	NC_000017.11:g.35650548C>G	ExAC
NCI-TCGA novel	p.Arg520Ter	stop gained	-	NC_000017.11:g.35650551C>T	NCI-TCGA
rs1275687805	p.Asp521Glu	missense variant	-	NC_000017.11:g.35650556C>A	gnomAD
NCI-TCGA novel	p.Arg522Trp	missense variant	-	NC_000017.11:g.35650557C>T	NCI-TCGA
NCI-TCGA novel	p.Gly523AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.35650558G>-	NCI-TCGA
rs759031459	p.Tyr524Cys	missense variant	-	NC_000017.11:g.35650564A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg528His	missense variant	-	NC_000017.11:g.35650576G>A	NCI-TCGA
NCI-TCGA novel	p.Leu529Ile	missense variant	-	NC_000017.11:g.35650578C>A	NCI-TCGA
rs1355124123	p.Thr532Ala	missense variant	-	NC_000017.11:g.35650587A>G	TOPMed,gnomAD
rs758748077	p.Pro534Leu	missense variant	-	NC_000017.11:g.35650594C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys538Ter	frameshift	-	NC_000017.11:g.35650603_35650604insA	NCI-TCGA
rs752151532	p.Glu539Gly	missense variant	-	NC_000017.11:g.35650609A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu539Ter	missense variant	-	NC_000017.11:g.35650608G>T	NCI-TCGA
NCI-TCGA novel	p.Val540Ile	missense variant	-	NC_000017.11:g.35650611G>A	NCI-TCGA
rs199884245	p.Val541Ala	missense variant	-	NC_000017.11:g.35650615T>C	1000Genomes
NCI-TCGA novel	p.Ser549Pro	missense variant	-	NC_000017.11:g.35650638T>C	NCI-TCGA
rs777580316	p.Ile555Leu	missense variant	-	NC_000017.11:g.35650656A>C	ExAC
rs775055212	p.Asp561Tyr	missense variant	-	NC_000017.11:g.35650674G>T	ExAC,gnomAD
rs762662078	p.Leu563Gln	missense variant	-	NC_000017.11:g.35650681T>A	ExAC,gnomAD
rs1238895393	p.His566Asn	missense variant	-	NC_000017.11:g.35650689C>A	gnomAD
rs763799850	p.Ile567Val	missense variant	-	NC_000017.11:g.35650692A>G	ExAC,TOPMed,gnomAD
rs751992403	p.Gly568Asp	missense variant	-	NC_000017.11:g.35650696G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser569Tyr	missense variant	-	NC_000017.11:g.35650699C>A	NCI-TCGA
rs762208856	p.Leu570Ser	missense variant	-	NC_000017.11:g.35650702T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu570Phe	missense variant	-	NC_000017.11:g.35650703G>T	NCI-TCGA
NCI-TCGA novel	p.Ser572Phe	missense variant	-	NC_000017.11:g.35650708C>T	NCI-TCGA
rs1273410678	p.Tyr574Cys	missense variant	-	NC_000017.11:g.35650714A>G	gnomAD
NCI-TCGA novel	p.His575Tyr	missense variant	-	NC_000017.11:g.35650716C>T	NCI-TCGA
rs750935310	p.Pro577Leu	missense variant	-	NC_000017.11:g.35650723C>T	ExAC
rs377040347	p.Asn579Ser	missense variant	-	NC_000017.11:g.35650729A>G	ExAC,TOPMed,gnomAD
rs369933211	p.Ser585Gly	missense variant	-	NC_000017.11:g.35650746A>G	ESP,ExAC,TOPMed,gnomAD
rs753824400	p.His586Arg	missense variant	-	NC_000017.11:g.35650750A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly587Glu	missense variant	-	NC_000017.11:g.35650753G>A	NCI-TCGA
NCI-TCGA novel	p.Ile588Val	missense variant	-	NC_000017.11:g.35650755A>G	NCI-TCGA
rs1180949069	p.Arg590His	missense variant	-	NC_000017.11:g.35650762G>A	gnomAD
rs755219613	p.Ile595Phe	missense variant	-	NC_000017.11:g.35650776A>T	ExAC,TOPMed,gnomAD
rs755219613	p.Ile595Val	missense variant	-	NC_000017.11:g.35650776A>G	ExAC,TOPMed,gnomAD
rs1473787168	p.Gly598Arg	missense variant	-	NC_000017.11:g.35650785G>A	gnomAD
NCI-TCGA novel	p.Gly598Glu	missense variant	-	NC_000017.11:g.35650786G>A	NCI-TCGA
rs774080002	p.Asp601Glu	missense variant	-	NC_000017.11:g.35657605T>A	ExAC,TOPMed,gnomAD
rs1188713319	p.Asp601Asn	missense variant	-	NC_000017.11:g.35657603G>A	gnomAD
rs1342134014	p.Ala602Val	missense variant	-	NC_000017.11:g.35657607C>T	TOPMed
rs1196026752	p.Gly603Ser	missense variant	-	NC_000017.11:g.35657609G>A	gnomAD
rs1252435583	p.Asp604Gly	missense variant	-	NC_000017.11:g.35657613A>G	TOPMed
rs1373867619	p.Ser605Thr	missense variant	-	NC_000017.11:g.35657616G>C	gnomAD
rs1166586737	p.Pro606Thr	missense variant	-	NC_000017.11:g.35657618C>A	gnomAD
rs1404939760	p.Val607Leu	missense variant	-	NC_000017.11:g.35657621G>C	gnomAD
rs762331462	p.Thr611Pro	missense variant	-	NC_000017.11:g.35657633A>C	ExAC,TOPMed,gnomAD
rs762331462	p.Thr611Ala	missense variant	-	NC_000017.11:g.35657633A>G	ExAC,TOPMed,gnomAD
rs761350585	p.Thr613Lys	missense variant	-	NC_000017.11:g.35657640C>A	ExAC,TOPMed,gnomAD
rs146369983	p.Thr613Ala	missense variant	-	NC_000017.11:g.35657639A>G	ESP,ExAC,TOPMed,gnomAD
rs761350585	p.Thr613Met	missense variant	-	NC_000017.11:g.35657640C>T	ExAC,TOPMed,gnomAD
rs754986816	p.Asn614Lys	missense variant	-	NC_000017.11:g.35657644C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu615Pro	missense variant	-	NC_000017.11:g.35657646T>C	NCI-TCGA
rs951303237	p.Leu615Val	missense variant	-	NC_000017.11:g.35657645C>G	TOPMed
rs1226419185	p.Glu616Gln	missense variant	-	NC_000017.11:g.35657648G>C	TOPMed,gnomAD
rs1349809467	p.Gln617Glu	missense variant	-	NC_000017.11:g.35657651C>G	gnomAD
rs1211451001	p.Gln617His	missense variant	-	NC_000017.11:g.35657653G>C	gnomAD
rs200482175	p.Gln617Arg	missense variant	-	NC_000017.11:g.35657652A>G	1000Genomes
NCI-TCGA novel	p.Gln619Ter	stop gained	-	NC_000017.11:g.35657657C>T	NCI-TCGA
NCI-TCGA novel	p.Gln619Lys	missense variant	-	NC_000017.11:g.35657657C>A	NCI-TCGA
rs765514137	p.Ser623Phe	missense variant	-	NC_000017.11:g.35657670C>T	ExAC,gnomAD
rs1262688733	p.Leu628Ile	missense variant	-	NC_000017.11:g.35657684C>A	TOPMed,gnomAD
rs1337313119	p.Gly637Ser	missense variant	-	NC_000017.11:g.35657711G>A	gnomAD
NCI-TCGA novel	p.Pro638Leu	missense variant	-	NC_000017.11:g.35657715C>T	NCI-TCGA
rs1457297243	p.Pro639Ala	missense variant	-	NC_000017.11:g.35657717C>G	TOPMed
rs765060464	p.Asn641Ser	missense variant	-	NC_000017.11:g.35657724A>G	ExAC,TOPMed,gnomAD
rs1173490738	p.Val642Ala	missense variant	-	NC_000017.11:g.35657727T>C	gnomAD
NCI-TCGA novel	p.Pro643Thr	missense variant	-	NC_000017.11:g.35657729C>A	NCI-TCGA
NCI-TCGA novel	p.Pro643Ser	missense variant	-	NC_000017.11:g.35657729C>T	NCI-TCGA
rs867138054	p.Gln644Ter	stop gained	-	NC_000017.11:g.35657732C>T	TOPMed
rs773149136	p.Gln644His	missense variant	-	NC_000017.11:g.35657734G>C	TOPMed,gnomAD
rs1432315410	p.Ser646Pro	missense variant	-	NC_000017.11:g.35657738T>C	gnomAD
rs779795416	p.Met648Val	missense variant	-	NC_000017.11:g.35657744A>G	ExAC,gnomAD
rs1179516303	p.Met648Thr	missense variant	-	NC_000017.11:g.35657745T>C	TOPMed
rs1439064991	p.Met648Ile	missense variant	-	NC_000017.11:g.35657746G>A	TOPMed
rs748809472	p.Met650Leu	missense variant	-	NC_000017.11:g.35657750A>T	ExAC,gnomAD
rs1293032524	p.Leu655Pro	missense variant	-	NC_000017.11:g.35657766T>C	gnomAD
rs1209773428	p.Gly659Ala	missense variant	-	NC_000017.11:g.35657778G>C	TOPMed
rs774202744	p.Asp661Gly	missense variant	-	NC_000017.11:g.35657784A>G	ExAC,gnomAD
rs1156650265	p.Val664Ala	missense variant	-	NC_000017.11:g.35671755T>C	TOPMed
rs757846710	p.Gln666His	missense variant	-	NC_000017.11:g.35671762A>C	ExAC,gnomAD
rs1447002263	p.Thr676Ile	missense variant	-	NC_000017.11:g.35671791C>T	TOPMed
rs746621449	p.Thr676Ala	missense variant	-	NC_000017.11:g.35671790A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala678Thr	missense variant	-	NC_000017.11:g.35671796G>A	NCI-TCGA
NCI-TCGA novel	p.Pro681His	missense variant	-	NC_000017.11:g.35671806C>A	NCI-TCGA
rs1207351504	p.Pro681Ala	missense variant	-	NC_000017.11:g.35671805C>G	TOPMed
rs1476214337	p.Pro683Ser	missense variant	-	NC_000017.11:g.35671811C>T	gnomAD
NCI-TCGA novel	p.Ala684Asp	missense variant	-	NC_000017.11:g.35671815C>A	NCI-TCGA
rs1186868935	p.Val685Met	missense variant	-	NC_000017.11:g.35671817G>A	gnomAD
rs146573316	p.Val685Ala	missense variant	-	NC_000017.11:g.35671818T>C	ESP,ExAC,TOPMed,gnomAD
rs770296519	p.Ser687Gly	missense variant	-	NC_000017.11:g.35671823A>G	ExAC,gnomAD
rs1175369422	p.Asn691Ser	missense variant	-	NC_000017.11:g.35671836A>G	gnomAD
NCI-TCGA novel	p.Asp692Asn	missense variant	-	NC_000017.11:g.35671838G>A	NCI-TCGA
rs775906970	p.Phe694Tyr	missense variant	-	NC_000017.11:g.35671845T>A	ExAC,gnomAD
rs775906970	p.Phe694Ser	missense variant	-	NC_000017.11:g.35671845T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr698Lys	missense variant	-	NC_000017.11:g.35671857C>A	NCI-TCGA
NCI-TCGA novel	p.Gly699Arg	missense variant	-	NC_000017.11:g.35671859G>A	NCI-TCGA
rs774678846	p.Ile700Val	missense variant	-	NC_000017.11:g.35671862A>G	ExAC,gnomAD
rs1431690845	p.Gly701Ser	missense variant	-	NC_000017.11:g.35671865G>A	gnomAD
rs1269861869	p.Gly701Val	missense variant	-	NC_000017.11:g.35671866G>T	gnomAD
rs1236976524	p.Ala703Val	missense variant	-	NC_000017.11:g.35671872C>T	gnomAD
rs1262855720	p.Pro704Ala	missense variant	-	NC_000017.11:g.35671874C>G	TOPMed
rs140959021	p.Gly705Asp	missense variant	-	NC_000017.11:g.35671878G>A	ESP,ExAC,TOPMed,gnomAD
rs753705561	p.Val708Leu	missense variant	-	NC_000017.11:g.35671886G>T	ExAC,gnomAD
rs753705561	p.Val708Met	missense variant	-	NC_000017.11:g.35671886G>A	ExAC,gnomAD
rs145680535	p.Ala709Val	missense variant	-	NC_000017.11:g.35671890C>T	ESP,ExAC,TOPMed,gnomAD
rs1430084302	p.Ala709Ser	missense variant	-	NC_000017.11:g.35671889G>T	TOPMed
rs752568925	p.Pro710Leu	missense variant	-	NC_000017.11:g.35671893C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala712Val	missense variant	-	NC_000017.11:g.35671899C>T	NCI-TCGA
rs764045264	p.Val713Ile	missense variant	-	NC_000017.11:g.35674176G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp714Ser	missense variant	-	NC_000017.11:g.35674180G>C	NCI-TCGA
rs1473879610	p.Gly727Arg	missense variant	-	NC_000017.11:g.35674218G>A	TOPMed
rs756781595	p.Thr728Ser	missense variant	-	NC_000017.11:g.35674221A>T	gnomAD
rs756781595	p.Thr728Ala	missense variant	-	NC_000017.11:g.35674221A>G	gnomAD
NCI-TCGA novel	p.Thr730Asn	missense variant	-	NC_000017.11:g.35674228C>A	NCI-TCGA
NCI-TCGA novel	p.Thr730Ser	missense variant	-	NC_000017.11:g.35674227A>T	NCI-TCGA
rs147829807	p.Thr730Ala	missense variant	-	NC_000017.11:g.35674227A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141309963	p.Arg732His	missense variant	-	NC_000017.11:g.35674234G>A	ESP,ExAC,TOPMed,gnomAD
rs746818676	p.Arg732Cys	missense variant	-	NC_000017.11:g.35674233C>T	gnomAD
rs1438210350	p.His735Pro	missense variant	-	NC_000017.11:g.35674243A>C	TOPMed
rs755459569	p.Ile736Val	missense variant	-	NC_000017.11:g.35674245A>G	ExAC,gnomAD
rs748308397	p.Tyr737Cys	missense variant	-	NC_000017.11:g.35674249A>G	ExAC,gnomAD
rs1273429846	p.Met738Val	missense variant	-	NC_000017.11:g.35674251A>G	TOPMed,gnomAD
rs772268190	p.Met740Val	missense variant	-	NC_000017.11:g.35674257A>G	ExAC,gnomAD
rs773622642	p.Met740Thr	missense variant	-	NC_000017.11:g.35674258T>C	ExAC,TOPMed,gnomAD
rs1275022140	p.Asn741Lys	missense variant	-	NC_000017.11:g.35674262C>G	gnomAD
rs988536829	p.Phe742Leu	missense variant	-	NC_000017.11:g.35674265C>A	TOPMed
rs1181148994	p.Ala746Pro	missense variant	-	NC_000017.11:g.35674275G>C	gnomAD
rs1227247249	p.His749Tyr	missense variant	-	NC_000017.11:g.35674284C>T	TOPMed
rs1249652103	p.Met750Val	missense variant	-	NC_000017.11:g.35674287A>G	gnomAD
rs945947297	p.Ile755Val	missense variant	-	NC_000017.11:g.35674302A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asn760Lys	missense variant	-	NC_000017.11:g.35674319T>A	NCI-TCGA
NCI-TCGA novel	p.Asn760IlePheSerTerUnkUnk	frameshift	-	NC_000017.11:g.35674314A>-	NCI-TCGA
rs948626862	p.Ile765Met	missense variant	-	NC_000017.11:g.35682707C>G	TOPMed,gnomAD
rs186795042	p.Ala771Ser	missense variant	-	NC_000017.11:g.35682723G>T	1000Genomes
rs1349199501	p.Ala771Gly	missense variant	-	NC_000017.11:g.35682724C>G	TOPMed
rs779350508	p.Pro775Ser	missense variant	-	NC_000017.11:g.35682735C>T	ExAC,gnomAD
rs1167196588	p.Met777Thr	missense variant	-	NC_000017.11:g.35682742T>C	gnomAD
rs748647573	p.Ser781Gly	missense variant	-	NC_000017.11:g.35682753A>G	ExAC,gnomAD
rs758595766	p.Val784Ile	missense variant	-	NC_000017.11:g.35682762G>A	ExAC,TOPMed,gnomAD
rs1393883963	p.Ser785Cys	missense variant	-	NC_000017.11:g.35682766C>G	gnomAD
rs928540729	p.Pro787Leu	missense variant	-	NC_000017.11:g.35682772C>T	TOPMed
rs778030836	p.Pro787Thr	missense variant	-	NC_000017.11:g.35682771C>A	ExAC,TOPMed,gnomAD
rs747037239	p.Leu788Val	missense variant	-	NC_000017.11:g.35682774C>G	ExAC,TOPMed,gnomAD
rs1295278120	p.Asn789Ser	missense variant	-	NC_000017.11:g.35682778A>G	gnomAD
rs1350051560	p.Thr790Ser	missense variant	-	NC_000017.11:g.35682781C>G	TOPMed,gnomAD
rs1251662865	p.Leu791Phe	missense variant	-	NC_000017.11:g.35682785G>T	TOPMed
rs1235102935	p.Pro793Arg	missense variant	-	NC_000017.11:g.35682790C>G	gnomAD
rs1482321754	p.Met795Ile	missense variant	-	NC_000017.11:g.35682797G>A	gnomAD
rs781410234	p.Met797Thr	missense variant	-	NC_000017.11:g.35682802T>C	ExAC,gnomAD
rs373853532	p.Met797Val	missense variant	-	NC_000017.11:g.35682801A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn802Ser	missense variant	-	NC_000017.11:g.35682817A>G	NCI-TCGA
NCI-TCGA novel	p.Ala806Val	missense variant	-	NC_000017.11:g.35709228C>T	NCI-TCGA
rs1555586246	p.Val807Met	missense variant	-	NC_000017.11:g.35709230G>A	gnomAD
rs1488321166	p.Cys818Gly	missense variant	-	NC_000017.11:g.35709263T>G	TOPMed
rs1488321166	p.Cys818Ser	missense variant	-	NC_000017.11:g.35709263T>A	TOPMed
rs782263404	p.Leu819Val	missense variant	-	NC_000017.11:g.35709266C>G	ExAC,gnomAD
rs782384569	p.Pro821Ser	missense variant	-	NC_000017.11:g.35709272C>T	ExAC,gnomAD
rs781979941	p.Pro821Gln	missense variant	-	NC_000017.11:g.35709273C>A	ExAC,gnomAD
rs782084650	p.Leu825Phe	missense variant	-	NC_000017.11:g.35709284C>T	ExAC,gnomAD
rs782165005	p.Val827Ile	missense variant	-	NC_000017.11:g.35709290G>A	ExAC,gnomAD
rs1555586321	p.Glu828Gln	missense variant	-	NC_000017.11:g.35709293G>C	gnomAD
rs1555586325	p.Asp829Val	missense variant	-	NC_000017.11:g.35709297A>T	gnomAD
rs1322825448	p.Lys831Arg	missense variant	-	NC_000017.11:g.35709303A>G	TOPMed
rs1555586854	p.Lys842Glu	missense variant	-	NC_000017.11:g.35710260A>G	gnomAD
rs1555586863	p.Asp843Gly	missense variant	-	NC_000017.11:g.35710264A>G	gnomAD
rs782017586	p.Asn848Ser	missense variant	-	NC_000017.11:g.35710279A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu849Ter	stop gained	-	NC_000017.11:g.35710281G>T	NCI-TCGA
rs368490814	p.Leu850His	missense variant	-	NC_000017.11:g.35710285T>A	ESP,ExAC,gnomAD
rs1555586892	p.His858Arg	missense variant	-	NC_000017.11:g.35710309A>G	gnomAD
NCI-TCGA novel	p.Ala861Asp	missense variant	-	NC_000017.11:g.35710318C>A	NCI-TCGA
rs1555590364	p.Asp862Ala	missense variant	-	NC_000017.11:g.35717195A>C	gnomAD
rs781999602	p.Thr863Ala	missense variant	-	NC_000017.11:g.35717197A>G	TOPMed
NCI-TCGA novel	p.Ser865Phe	missense variant	-	NC_000017.11:g.35717204C>T	NCI-TCGA
rs782623891	p.Ser865Ala	missense variant	-	NC_000017.11:g.35717203T>G	ExAC,gnomAD
rs782225194	p.Ser866Asn	missense variant	-	NC_000017.11:g.35717207G>A	ExAC,gnomAD
rs141653744	p.Leu868Met	missense variant	-	NC_000017.11:g.35717212T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn871Ser	missense variant	-	NC_000017.11:g.35717222A>G	NCI-TCGA
rs782240837	p.Asn872Lys	missense variant	-	NC_000017.11:g.35717226T>G	ExAC,gnomAD
rs150087874	p.Asn872Ser	missense variant	-	NC_000017.11:g.35717225A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr875Ala	missense variant	-	NC_000017.11:g.35717233A>G	NCI-TCGA
rs1555590435	p.Ile876Val	missense variant	-	NC_000017.11:g.35717236A>G	gnomAD
NCI-TCGA novel	p.Gly883Val	missense variant	-	NC_000017.11:g.35717258G>T	NCI-TCGA
rs138358422	p.Leu893Phe	missense variant	-	NC_000017.11:g.35717287C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Thr894Asn	missense variant	-	NC_000017.11:g.35717291C>A	NCI-TCGA
rs781828320	p.Gly896Ser	missense variant	-	NC_000017.11:g.35717296G>A	ExAC,gnomAD
rs1278397475	p.Ile897Val	missense variant	-	NC_000017.11:g.35717299A>G	TOPMed
rs1232350606	p.Ile899Thr	missense variant	-	NC_000017.11:g.35717306T>C	TOPMed
NCI-TCGA novel	p.Leu900Ter	stop gained	-	NC_000017.11:g.35717309T>A	NCI-TCGA
NCI-TCGA novel	p.Glu902Lys	missense variant	-	NC_000017.11:g.35717314G>A	NCI-TCGA
NCI-TCGA novel	p.Arg904Leu	missense variant	-	NC_000017.11:g.35717321G>T	NCI-TCGA
NCI-TCGA novel	p.Arg904Pro	missense variant	-	NC_000017.11:g.35717321G>C	NCI-TCGA
NCI-TCGA novel	p.Arg904Cys	missense variant	-	NC_000017.11:g.35717320C>T	NCI-TCGA
rs782691619	p.Ile905Met	missense variant	-	NC_000017.11:g.35717325C>G	ExAC,gnomAD
rs1053750128	p.Pro910Thr	missense variant	-	NC_000017.11:g.35717338C>A	TOPMed
rs1053750128	p.Pro910Ala	missense variant	-	NC_000017.11:g.35717338C>G	TOPMed
rs782541289	p.Asn911Ser	missense variant	-	NC_000017.11:g.35717342A>G	ExAC,gnomAD
rs1361613421	p.Ala920Ser	missense variant	-	NC_000017.11:g.35723643G>T	TOPMed,gnomAD
rs1160808279	p.Pro921Leu	missense variant	-	NC_000017.11:g.35723647C>T	TOPMed
rs782471762	p.Val923Ile	missense variant	-	NC_000017.11:g.35723652G>A	ExAC,TOPMed,gnomAD
rs1191455992	p.Tyr928His	missense variant	-	NC_000017.11:g.35723667T>C	TOPMed,gnomAD
rs149437317	p.Tyr928Cys	missense variant	-	NC_000017.11:g.35723668A>G	ESP,ExAC,TOPMed,gnomAD
rs1555593998	p.Gln929Arg	missense variant	-	NC_000017.11:g.35723671A>G	gnomAD
rs146388051	p.Asp932Asn	missense variant	-	NC_000017.11:g.35723679G>A	ESP,ExAC,TOPMed,gnomAD
rs146388051	p.Asp932His	missense variant	-	NC_000017.11:g.35723679G>C	ESP,ExAC,TOPMed,gnomAD
rs1354606177	p.Ter938Gln	stop lost	-	NC_000017.11:g.35723697T>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0032181	Platelet Count measurement	phenotype	GWASCAT
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0086132	Depressive Symptoms	phenotype	BEFREE;PSYGENET
C0200665	Platelet mean volume determination (procedure)	phenotype	GWASCAT;GWASDB
C0206161	Reticulocyte count (procedure)	phenotype	GWASCAT
C0206655	Alveolar rhabdomyosarcoma	disease	BEFREE
C0262404	Cerebellar degeneration	disease	BEFREE
C0427565	Platelet distribution width measurement	phenotype	GWASCAT
C0740392	Infarction, Middle Cerebral Artery	disease	RGD
C1318035	Platelet distribution width result	phenotype	GWASCAT
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005048	signal sequence binding	TAS
GO:0005515	protein binding	IPI
GO:0030276	clathrin binding	TAS
GO:0030276	clathrin binding	IPI
GO:0030276	clathrin binding	IBA
GO:0030276	clathrin binding	IDA
GO:0044877	protein-containing complex binding	IEA
GO:0035615	clathrin adaptor activity	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003281	ventricular septum development	IEA
GO:0006886	intracellular protein transport	IEA
GO:0016192	vesicle-mediated transport	IBA
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS
GO:0034383	low-density lipoprotein particle clearance	TAS
GO:0035904	aorta development	IEA
GO:0045807	positive regulation of endocytosis	IEA
GO:0048013	ephrin receptor signaling pathway	TAS
GO:0048268	clathrin coat assembly	IEA
GO:0050690	regulation of defense response to virus by virus	TAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0060976	coronary vasculature development	IEA
GO:0061024	membrane organization	TAS
GO:0072583	clathrin-dependent endocytosis	TAS
GO:0072583	clathrin-dependent endocytosis	IDA
GO:0098884	postsynaptic neurotransmitter receptor internalization	IEA
GO:1901215	negative regulation of neuron death	IEA
GO:1905477	positive regulation of protein localization to membrane	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	TAS
GO:0016020	membrane	HDA
GO:0030122	AP-2 adaptor complex	IMP
GO:0030122	AP-2 adaptor complex	TAS
GO:0030122	AP-2 adaptor complex	IDA
GO:0030131	clathrin adaptor complex	IDA
GO:0030666	endocytic vesicle membrane	TAS
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS
GO:0036020	endolysosome membrane	TAS
GO:0045334	clathrin-coated endocytic vesicle	NAS
GO:0098794	postsynapse	IEA
GO:0098978	glutamatergic synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	TAS
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112316	Neuronal System	TAS
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1280218	Adaptive Immune System	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-162906	HIV Infection	TAS
R-HSA-162909	Host Interactions of HIV factors	TAS
R-HSA-1643685	Disease	TAS
R-HSA-164938	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	TAS
R-HSA-164952	The role of Nef in HIV-1 replication and disease pathogenesis	TAS
R-HSA-166520	Signaling by NTRKs	TAS
R-HSA-166520	Signaling by NTRKs	IEA
R-HSA-167590	Nef Mediated CD4 Down-regulation	TAS
R-HSA-168256	Immune System	TAS
R-HSA-174824	Plasma lipoprotein assembly, remodeling, and clearance	TAS
R-HSA-177504	Retrograde neurotrophin signalling	TAS
R-HSA-177504	Retrograde neurotrophin signalling	IEA
R-HSA-182218	Nef Mediated CD8 Down-regulation	TAS
R-HSA-187037	Signaling by NTRK1 (TRKA)	TAS
R-HSA-187037	Signaling by NTRK1 (TRKA)	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-2132295	MHC class II antigen presentation	TAS
R-HSA-2682334	EPH-Ephrin signaling	TAS
R-HSA-373760	L1CAM interactions	TAS
R-HSA-373760	L1CAM interactions	IEA
R-HSA-382551	Transport of small molecules	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	TAS
R-HSA-399719	Trafficking of AMPA receptors	TAS
R-HSA-399721	Glutamate binding, activation of AMPA receptors and synaptic plasticity	TAS
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-416993	Trafficking of GluR2-containing AMPA receptors	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-422475	Axon guidance	IEA
R-HSA-437239	Recycling pathway of L1	TAS
R-HSA-437239	Recycling pathway of L1	IEA
R-HSA-5099900	WNT5A-dependent internalization of FZD4	TAS
R-HSA-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-5663205	Infectious disease	TAS
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis	TAS
R-HSA-8856828	Clathrin-mediated endocytosis	TAS
R-HSA-8866427	VLDLR internalisation and degradation	TAS
R-HSA-8964038	LDL clearance	TAS
R-HSA-8964043	Plasma lipoprotein clearance	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in increased expression of AP2B1 mRNA	19114083
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of AP2B1 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of AP2B1 mRNA	21346803
C030370	2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone	2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone results in increased expression of AP2B1 mRNA	20206263
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AP2B1 mRNA	27188386
C032642	4-aminophenylarsenoxide	4-aminophenylarsenoxide binds to AP2B1 protein	26598702
C032642	4-aminophenylarsenoxide	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to AP2B1 protein]	26598702
C018511	4-dichlorobenzene	4-dichlorobenzene results in increased expression of AP2B1 mRNA	26975756
D000082	Acetaminophen	Acetaminophen affects the expression of AP2B1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of AP2B1 gene	27153756
D000077237	Arsenic Trioxide	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to AP2B1 protein]	26598702
D001241	Aspirin	Aspirin results in decreased expression of AP2B1 mRNA	11906190
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of AP2B1 mRNA	22228805
C006780	bisphenol A	bisphenol A affects the expression of AP2B1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of AP2B1 mRNA	25181051
C584509	C646 compound	C646 compound results in decreased expression of AP2B1 mRNA	26191083
D002104	Cadmium	Cadmium results in decreased expression of AP2B1 mRNA	24284285
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of AP2B1 mRNA	12734012
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of AP2B1 mRNA	20350560
D003024	Clozapine	Clozapine results in increased expression of AP2B1 mRNA	15860345
D003042	Cocaine	Cocaine affects the expression of AP2B1 mRNA	20187946
D003471	Cuprizone	Cuprizone results in decreased expression of AP2B1 mRNA	26577399
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of AP2B1 mRNA	26924002
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of AP2B1 mRNA	17942915
D004052	Diethylnitrosamine	MET protein inhibits the reaction [Diethylnitrosamine results in increased expression of AP2B1 mRNA]	17942915
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of AP2B1 mRNA	15149470
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AP2B1 mRNA	27188386
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of AP2B1 mRNA	29432896
D000431	Ethanol	Ethanol affects the splicing of AP2B1 mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AP2B1 mRNA	17942748
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of AP2B1 mRNA	29432896
D006220	Haloperidol	Haloperidol affects the expression of AP2B1 mRNA	15860345
C492448	ICG 001	ICG 001 results in decreased expression of AP2B1 mRNA	26191083
D007213	Indomethacin	Indomethacin results in decreased expression of AP2B1 mRNA	28201806
D000077146	Irinotecan	Irinotecan analog results in decreased expression of AP2B1 mRNA	18927307
D015474	Isotretinoin	Isotretinoin results in increased expression of AP2B1 mRNA	20436886
D019344	Lactic Acid	Lactic Acid results in decreased expression of AP2B1 mRNA	30851411
D007854	Lead	Lead affects the expression of AP2B1 mRNA	28903495
D007854	Lead	Lead affects the splicing of AP2B1 mRNA	28903495
D008694	Methamphetamine	Methamphetamine results in decreased expression of AP2B1 mRNA	29802913
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of AP2B1 mRNA	28001369
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of AP2B1 protein	26558463
D008774	Methylphenidate	Methylphenidate results in increased expression of AP2B1 mRNA	22470460
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of AP2B1 mRNA	25554681
D009532	Nickel	Nickel results in increased expression of AP2B1 mRNA	24768652
C044387	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in increased expression of AP2B1 mRNA	12756304
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of AP2B1 mRNA	29432896
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of AP2B1 mRNA	28126411
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of AP2B1 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of AP2B1 mRNA	19270015; 19482888;
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of AP2B1 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in decreased expression of AP2B1 mRNA	20813756
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of AP2B1 mRNA	29432896
D011372	Progestins	Progestins results in increased expression of AP2B1 mRNA	19609016
D000077185	Resveratrol	Resveratrol results in decreased expression of AP2B1 protein	25505154
C004648	testosterone enanthate	testosterone enanthate affects the expression of AP2B1 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of AP2B1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AP2B1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of AP2B1 mRNA	16960034
C009495	titanium dioxide	titanium dioxide affects the expression of AP2B1 mRNA	17656681
C009495	titanium dioxide	titanium dioxide analog results in increased expression of AP2B1 mRNA	25111187
C009495	titanium dioxide	titanium dioxide results in decreased expression of AP2B1 mRNA	29264374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of AP2B1 protein	30291989
D014050	Toluene	Toluene affects the expression of AP2B1 mRNA	21827849
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AP2B1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of AP2B1 mRNA	24935251; 26272509;
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of AP2B1 mRNA	19042947
D014520	Urethane	Urethane results in increased expression of AP2B1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of AP2B1 mRNA	25979313
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of AP2B1 gene	25560391
D000069470	Venlafaxine Hydrochloride	Venlafaxine Hydrochloride results in decreased expression of AP2B1 mRNA	25423262
C025643	vinclozolin	vinclozolin affects the expression of AP2B1 mRNA	19015723
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of AP2B1 mRNA	12756304

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0168	Coated pit
KW-0254	Endocytosis
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR026739	AP_beta
IPR016342	AP_complex_bsu_1_2_4
IPR011989	ARM-like
IPR016024	ARM-type_fold
IPR000225	Armadillo
IPR015151	B-adaptin_app_sub_C
IPR002553	Clathrin/coatomer_adapt-like_N
IPR008152	Clathrin_a/b/g-adaptin_app_Ig
IPR013041	Clathrin_app_Ig-like_sf
IPR013037	Clathrin_b-adaptin_app_Ig-like
IPR009028	Coatomer/calthrin_app_sub_C
IPR012295	TBP_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF01602	Adaptin_N
PF02883	Alpha_adaptinC2
PF09066	B2-adapt-app_C

Gene: AP2B1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction