CleftGeneDB-Search

Gene: KIF2A

Basic information

Tag	Content
Uniprot ID	O00139; A5YM42; A5YM54; B4DY54; D3DW97; E9PB70; Q7Z5I3; Q8N5Q7;
Entrez ID	3796
Genbank protein ID	BAG63616.1; EAW51390.1; AAH31828.1; AAP84320.1; ABQ59026.1; CAA69621.1; ABQ59038.1; EAW51388.1;
Genbank nucleotide ID	NM_004520.4; NM_001243952.1; NM_001098511.2;
Ensembl protein ID	ENSP00000385622; ENSP00000385000; ENSP00000423772; ENSP00000370493;
Ensembl nucleotide ID	ENSG00000068796
Gene name	Kinesin-like protein KIF2A
Gene symbol	KIF2A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity.
Sequence	MATANFGKIQ IGIYVEIKRS DGRIHQAMVT SLNEDNESVT VEWIENGDTK GKEIDLESIF 60 SLNPDLVPDE EIEPSPETPP PPASSAKVNK IVKNRRTVAS IKNDPPSRDN RVVGSARARP 120 SQFPEQSSSA QQNGSVSDIS PVQAAKKEFG PPSRRKSNCV KEVEKLQEKR EKRRLQQQEL 180 REKRAQDVDA TNPNYEIMCM IRDFRGSLDY RPLTTADPID EHRICVCVRK RPLNKKETQM 240 KDLDVITIPS KDVVMVHEPK QKVDLTRYLE NQTFRFDYAF DDSAPNEMVY RFTARPLVET 300 IFERGMATCF AYGQTGSGKT HTMGGDFSGK NQDCSKGIYA LAARDVFLML KKPNYKKLEL 360 QVYATFFEIY SGKVFDLLNR KTKLRVLEDG KQQVQVVGLQ EREVKCVEDV LKLIDIGNSC 420 RTSGQTSANA HSSRSHAVFQ IILRRKGKLH GKFSLIDLAG NERGADTSSA DRQTRLEGAE 480 INKSLLALKE CIRALGRNKP HTPFRASKLT QVLRDSFIGE NSRTCMIATI SPGMASCENT 540 LNTLRYANRV KELTVDPTAA GDVRPIMHHP PNQIDDLETQ WGVGSSPQRD DLKLLCEQNE 600 EEVSPQLFTF HEAVSQMVEM EEQVVEDHRA VFQESIRWLE DEKALLEMTE EVDYDVDSYA 660 TQLEAILEQK IDILTELRDK VKSFRAALQE EEQASKQINP KRPRAL 706

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
2GRY
6BBN

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	KIF2A		G3N277	Bos taurus	Prediction	More>>
1:1 ortholog	KIF2A		J9P9X3	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	KIF2A	102180081	A0A452EHH5	Capra hircus	Prediction	More>>
1:1 ortholog	KIF2A	3796	O00139	Homo sapiens	Publication	More>>
1:1 ortholog	Kif2a	16563	P28740	Mus musculus	Prediction	More>>
1:1 ortholog	KIF2A	100615381	K7C9U3	Pan troglodytes	Prediction	More>>
1:1 ortholog	KIF2A		A0A287ADF2	Sus scrofa	Prediction	More>>
1:1 ortholog	Kif2a		F1M8L1	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs367659703	p.Thr3Met	missense variant	-	NC_000005.10:g.62306480C>T	ESP,ExAC,TOPMed,gnomAD
rs367659703	p.Thr3Lys	missense variant	-	NC_000005.10:g.62306480C>A	ESP,ExAC,TOPMed,gnomAD
rs765801970	p.Thr3Ala	missense variant	-	NC_000005.10:g.62306479A>G	ExAC,TOPMed,gnomAD
rs1486350001	p.Asn5Asp	missense variant	-	NC_000005.10:g.62306485A>G	gnomAD
rs1196272138	p.Asn5Lys	missense variant	-	NC_000005.10:g.62306487C>G	gnomAD
rs917841116	p.Asn5Ser	missense variant	-	NC_000005.10:g.62306486A>G	TOPMed,gnomAD
rs552269440	p.Gly7Arg	missense variant	-	NC_000005.10:g.62306491G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs552269440	p.Gly7Ser	missense variant	-	NC_000005.10:g.62306491G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1208355269	p.Gly7Asp	missense variant	-	NC_000005.10:g.62306492G>A	TOPMed
rs972154930	p.Lys8Glu	missense variant	-	NC_000005.10:g.62306494A>G	TOPMed,gnomAD
rs972154930	p.Lys8Gln	missense variant	-	NC_000005.10:g.62306494A>C	TOPMed,gnomAD
rs1166313686	p.Lys8Asn	missense variant	-	NC_000005.10:g.62306496G>T	gnomAD
rs1235554378	p.Ile9Val	missense variant	-	NC_000005.10:g.62306497A>G	TOPMed
rs1235554378	p.Ile9Leu	missense variant	-	NC_000005.10:g.62306497A>C	TOPMed
rs571541885	p.Gln10His	missense variant	-	NC_000005.10:g.62306502G>C	1000Genomes,ExAC,gnomAD
rs1415260207	p.Gln10Glu	missense variant	-	NC_000005.10:g.62306500C>G	TOPMed,gnomAD
rs1410948931	p.Ile11Met	missense variant	-	NC_000005.10:g.62306505C>G	TOPMed
rs752517127	p.Gly12Glu	missense variant	-	NC_000005.10:g.62306507G>A	ExAC,TOPMed,gnomAD
rs1403034431	p.Glu16Lys	missense variant	-	NC_000005.10:g.62306518G>A	TOPMed
rs1310811982	p.Asp21Asn	missense variant	-	NC_000005.10:g.62306533G>A	gnomAD
COSM1486887	p.Ile24Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62347137A>G	NCI-TCGA Cosmic
rs1276930329	p.Val29Ile	missense variant	-	NC_000005.10:g.62347150G>A	TOPMed,gnomAD
COSM3855795	p.Val29Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62347151T>C	NCI-TCGA Cosmic
rs765160141	p.Thr30Ile	missense variant	-	NC_000005.10:g.62347154C>T	ExAC
COSM3617327	p.Ser31Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62347157C>T	NCI-TCGA Cosmic
rs150192070	p.Asp35Asn	missense variant	-	NC_000005.10:g.62347168G>A	ESP,ExAC,TOPMed,gnomAD
rs925638530	p.Asn36Ser	missense variant	-	NC_000005.10:g.62347172A>G	TOPMed,gnomAD
rs546664729	p.Glu37Gly	missense variant	-	NC_000005.10:g.62347175A>G	1000Genomes,ExAC,gnomAD
rs751850670	p.Ser38Asn	missense variant	-	NC_000005.10:g.62347178G>A	ExAC,gnomAD
rs922141597	p.Val39Ile	missense variant	-	NC_000005.10:g.62347180G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp55Gly	missense variant	-	NC_000005.10:g.62348052A>G	NCI-TCGA
rs751337612	p.Leu56Met	missense variant	-	NC_000005.10:g.62348054C>A	ExAC,TOPMed,gnomAD
rs757038674	p.Ser58Asn	missense variant	-	NC_000005.10:g.62348061G>A	ExAC,gnomAD
COSM4836339	p.Ile59Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348065C>G	NCI-TCGA Cosmic
rs767638932	p.Ser61Leu	missense variant	-	NC_000005.10:g.62348070C>T	ExAC,gnomAD
rs138676317	p.Pro64Ser	missense variant	-	NC_000005.10:g.62348078C>T	ESP
rs73102041	p.Asp65Glu	missense variant	-	NC_000005.10:g.62348083C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000437514	p.Asp65Glu	missense variant	-	NC_000005.10:g.62348083C>A	ClinVar
rs756321886	p.Leu66Phe	missense variant	-	NC_000005.10:g.62348084C>T	ExAC,gnomAD
COSM482940	p.Leu66Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348084C>A	NCI-TCGA Cosmic
rs780248688	p.Pro68Ala	missense variant	-	NC_000005.10:g.62348090C>G	ExAC,gnomAD
rs749857734	p.Asp69Val	missense variant	-	NC_000005.10:g.62348094A>T	ExAC,gnomAD
COSM449949	p.Glu70Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348096G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu71Ter	stop gained	-	NC_000005.10:g.62348099G>T	NCI-TCGA
rs1293218793	p.Ile72Ser	missense variant	-	NC_000005.10:g.62348103T>G	TOPMed,gnomAD
rs1293218793	p.Ile72Thr	missense variant	-	NC_000005.10:g.62348103T>C	TOPMed,gnomAD
rs1258484187	p.Pro74Leu	missense variant	-	NC_000005.10:g.62348109C>T	gnomAD
rs779434615	p.Pro74Ala	missense variant	-	NC_000005.10:g.62348108C>G	ExAC,TOPMed,gnomAD
RCV000440374	p.Pro76Thr	missense variant	-	NC_000005.10:g.62348114C>A	ClinVar
rs748463159	p.Pro76Thr	missense variant	-	NC_000005.10:g.62348114C>A	ExAC,TOPMed,gnomAD
rs571500254	p.Pro80Gln	missense variant	-	NC_000005.10:g.62348127C>A	1000Genomes,ExAC,gnomAD
rs1484573099	p.Pro81Ser	missense variant	-	NC_000005.10:g.62348129C>T	TOPMed,gnomAD
rs3194481	p.Ala83Ser	missense variant	-	NC_000005.10:g.62348135G>T	ESP,ExAC,gnomAD
rs3194481	p.Ala83Thr	missense variant	-	NC_000005.10:g.62348135G>A	ESP,ExAC,gnomAD
rs769337181	p.Ser85Ala	missense variant	-	NC_000005.10:g.62348141T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala86Thr	missense variant	-	NC_000005.10:g.62348144G>A	NCI-TCGA
rs774962082	p.Val88Ala	missense variant	-	NC_000005.10:g.62348151T>C	ExAC,TOPMed,gnomAD
rs1425539658	p.Val88Ile	missense variant	-	NC_000005.10:g.62348150G>A	gnomAD
COSM3855797	p.Lys90Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348157A>C	NCI-TCGA Cosmic
COSM1069237	p.Lys90Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348158A>C	NCI-TCGA Cosmic
rs774278609	p.Val92Ile	missense variant	-	NC_000005.10:g.62348162G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg95Ter	stop gained	-	NC_000005.10:g.62350069C>T	NCI-TCGA
rs1296969890	p.Arg95Gln	missense variant	-	NC_000005.10:g.62350070G>A	gnomAD
rs1398830350	p.Arg96Trp	missense variant	-	NC_000005.10:g.62350072C>T	TOPMed,gnomAD
rs1007319532	p.Arg96Gln	missense variant	-	NC_000005.10:g.62350073G>A	TOPMed,gnomAD
rs185454811	p.Ser100Cys	missense variant	-	NC_000005.10:g.62350085C>G	1000Genomes,gnomAD
rs1233155974	p.Pro105Thr	missense variant	-	NC_000005.10:g.62350099C>A	gnomAD
NCI-TCGA novel	p.Ser107Leu	missense variant	-	NC_000005.10:g.62350106C>T	NCI-TCGA
rs1204558128	p.Arg108Lys	missense variant	-	NC_000005.10:g.62350109G>A	TOPMed
rs774215921	p.Val112Met	missense variant	-	NC_000005.10:g.62350120G>A	ExAC,gnomAD
rs1274890324	p.Val113Phe	missense variant	-	NC_000005.10:g.62352590G>T	TOPMed
rs1229237874	p.Gly114Ala	missense variant	-	NC_000005.10:g.62352594G>C	TOPMed
rs1220425782	p.Arg117Cys	missense variant	-	NC_000005.10:g.62352602C>T	gnomAD
rs1260020552	p.Arg117His	missense variant	-	NC_000005.10:g.62352603G>A	gnomAD
rs372617073	p.Arg119Gln	missense variant	-	NC_000005.10:g.62352609G>A	ExAC,TOPMed,gnomAD
rs1467202590	p.Arg119Trp	missense variant	-	NC_000005.10:g.62352608C>T	TOPMed,gnomAD
rs1247503072	p.Ser121Arg	missense variant	-	NC_000005.10:g.62352614A>C	TOPMed,gnomAD
rs1247503072	p.Ser121Gly	missense variant	-	NC_000005.10:g.62352614A>G	TOPMed,gnomAD
COSM738430	p.Ser121Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62352615G>T	NCI-TCGA Cosmic
rs779695634	p.Gln122Arg	missense variant	-	NC_000005.10:g.62352618A>G	ExAC
rs768119919	p.Gln126Pro	missense variant	-	NC_000005.10:g.62352630A>C	ExAC,gnomAD
rs138408434	p.Ser128Pro	missense variant	-	NC_000005.10:g.62352635T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000627065	p.Ser128Pro	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62352635T>C	ClinVar
rs772165829	p.Ala130Thr	missense variant	-	NC_000005.10:g.62352641G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln132His	missense variant	-	NC_000005.10:g.62352649G>T	NCI-TCGA
rs773217410	p.Gly134Val	missense variant	-	NC_000005.10:g.62352654G>T	ExAC,gnomAD
rs1428261413	p.Ser135Asn	missense variant	-	NC_000005.10:g.62352657G>A	gnomAD
NCI-TCGA novel	p.Asp138Tyr	missense variant	-	NC_000005.10:g.62352665G>T	NCI-TCGA
rs760558762	p.Pro141Leu	missense variant	-	NC_000005.10:g.62352675C>T	ExAC,gnomAD
rs1340919447	p.Ala144Thr	missense variant	-	NC_000005.10:g.62352683G>A	gnomAD
rs770833204	p.Lys146Glu	missense variant	-	NC_000005.10:g.62352689A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys147ArgPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.62352688A>-	NCI-TCGA
NCI-TCGA novel	p.Glu148GlyPheSerTerUnk	frameshift	-	NC_000005.10:g.62352687_62352688insA	NCI-TCGA
NCI-TCGA novel	p.Phe149Cys	missense variant	-	NC_000005.10:g.62352699T>G	NCI-TCGA
rs1456629507	p.Pro151Thr	missense variant	-	NC_000005.10:g.62352704C>A	TOPMed
COSM3617329	p.Pro151Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62352704C>T	NCI-TCGA Cosmic
rs759771074	p.Pro152Thr	missense variant	-	NC_000005.10:g.62352707C>A	ExAC,TOPMed,gnomAD
rs759771074	p.Pro152Ala	missense variant	-	NC_000005.10:g.62352707C>G	ExAC,TOPMed,gnomAD
COSM3617331	p.Pro152Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62352708C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser153Thr	missense variant	-	NC_000005.10:g.62352710T>A	NCI-TCGA
rs747697385	p.Arg154Cys	missense variant	-	NC_000005.10:g.62353277C>T	ExAC,TOPMed,gnomAD
rs1219221959	p.Arg154His	missense variant	-	NC_000005.10:g.62353278G>A	gnomAD
NCI-TCGA novel	p.Ser157Tyr	missense variant	-	NC_000005.10:g.62353287C>A	NCI-TCGA
NCI-TCGA novel	p.Cys159Gly	missense variant	-	NC_000005.10:g.62353292T>G	NCI-TCGA
rs1276997199	p.Cys159Tyr	missense variant	-	NC_000005.10:g.62353293G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu162Ter	stop gained	-	NC_000005.10:g.62353301G>T	NCI-TCGA
COSM1069239	p.Gln167His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62353318A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys169AsnPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.62353320A>-	NCI-TCGA
rs757923895	p.Glu171Gln	missense variant	-	NC_000005.10:g.62353328G>C	ExAC,gnomAD
rs1238643590	p.Lys172Glu	missense variant	-	NC_000005.10:g.62353331A>G	gnomAD
NCI-TCGA novel	p.Arg174Lys	missense variant	-	NC_000005.10:g.62353338G>A	NCI-TCGA
rs1380512070	p.Ala185Ser	missense variant	-	NC_000005.10:g.62353370G>T	gnomAD
rs1441214697	p.Ala185Gly	missense variant	-	NC_000005.10:g.62353371C>G	gnomAD
rs777382535	p.Val188Ile	missense variant	-	NC_000005.10:g.62355162G>A	ExAC,TOPMed,gnomAD
RCV000520527	p.Val188Ile	missense variant	-	NC_000005.10:g.62355162G>A	ClinVar
rs746988250	p.Asn192His	missense variant	-	NC_000005.10:g.62355174A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn194Ile	missense variant	-	NC_000005.10:g.62355181A>T	NCI-TCGA
rs1330803835	p.Asn194Thr	missense variant	-	NC_000005.10:g.62355181A>C	gnomAD
rs1327237342	p.Tyr195His	missense variant	-	NC_000005.10:g.62355183T>C	TOPMed
COSM6171670	p.Glu196Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62355186G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp203Tyr	missense variant	-	NC_000005.10:g.62355207G>T	NCI-TCGA
rs769421818	p.Asp209Asn	missense variant	-	NC_000005.10:g.62355225G>A	ExAC,TOPMed,gnomAD
rs1319399388	p.Thr215Ala	missense variant	-	NC_000005.10:g.62355243A>G	gnomAD
rs1207626479	p.Ala216Val	missense variant	-	NC_000005.10:g.62355247C>T	gnomAD
rs143966710	p.Pro218Leu	missense variant	-	NC_000005.10:g.62355253C>T	ESP,ExAC,TOPMed,gnomAD
rs1356565525	p.His222Tyr	missense variant	-	NC_000005.10:g.62357700C>T	gnomAD
rs781206641	p.Arg223Ser	missense variant	-	NC_000005.10:g.62357705G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile224Met	missense variant	-	NC_000005.10:g.62357708A>G	NCI-TCGA
COSM1069241	p.Cys225Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62357710G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys227Phe	missense variant	-	NC_000005.10:g.62357716G>T	NCI-TCGA
COSM5096880	p.Arg229Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62357708_62357709insTG	NCI-TCGA Cosmic
rs750318761	p.Arg231Ter	stop gained	-	NC_000005.10:g.62357727C>T	ExAC,gnomAD
COSM261667	p.Arg231Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62357728G>A	NCI-TCGA Cosmic
rs561322134	p.Thr238Ser	missense variant	-	NC_000005.10:g.62358140C>G	1000Genomes,ExAC,gnomAD
rs561322134	p.Thr238Ile	missense variant	-	NC_000005.10:g.62358140C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Met240Ile	missense variant	-	NC_000005.10:g.62358147G>T	NCI-TCGA
COSM1212453	p.Asp242Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62358151G>T	NCI-TCGA Cosmic
rs748314027	p.Ile246Met	missense variant	-	NC_000005.10:g.62358165C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys251Thr	missense variant	-	NC_000005.10:g.62358179A>C	NCI-TCGA
rs1002650078	p.Asp252Glu	missense variant	-	NC_000005.10:g.62358183T>A	TOPMed
rs747058644	p.His257Arg	missense variant	-	NC_000005.10:g.62358197A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro259Ser	missense variant	-	NC_000005.10:g.62358202C>T	NCI-TCGA
rs759996312	p.Gln272Glu	missense variant	-	NC_000005.10:g.62358241C>G	ExAC,gnomAD
rs1375651707	p.Arg275Cys	missense variant	-	NC_000005.10:g.62358250C>T	gnomAD
NCI-TCGA novel	p.Asp281Gly	missense variant	-	NC_000005.10:g.62358269A>G	NCI-TCGA
rs1311115304	p.Asp282Glu	missense variant	-	NC_000005.10:g.62358273C>G	gnomAD
rs1232353083	p.Pro285Leu	missense variant	-	NC_000005.10:g.62358281C>T	gnomAD
COSM1069243	p.Glu287Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62358286G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met288Thr	missense variant	-	NC_000005.10:g.62358290T>C	NCI-TCGA
rs764986275	p.Arg291Ser	missense variant	-	NC_000005.10:g.62361242G>T	ExAC,gnomAD
rs1398039687	p.Ile301Thr	missense variant	-	NC_000005.10:g.62361271T>C	TOPMed
rs758569102	p.Gly305Val	missense variant	-	NC_000005.10:g.62361283G>T	ExAC,gnomAD
RCV000708562	p.Gly313Glu	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361307G>A	ClinVar
rs587777034	p.Ser317Asn	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (cdcbm3)	NC_000005.10:g.62361319G>A	-
rs587777034	p.Ser317Asn	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361319G>A	UniProt,dbSNP
VAR_070575	p.Ser317Asn	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361319G>A	UniProt
RCV000055624	p.Ser317Asn	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361319G>A	ClinVar
rs1554042050	p.Thr320Ile	missense variant	-	NC_000005.10:g.62361328C>T	-
RCV000501043	p.Thr320Ile	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361328C>T	ClinVar
RCV000055623	p.His321Asp	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361330C>G	ClinVar
rs587777033	p.His321Asp	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361330C>G	UniProt,dbSNP
VAR_070576	p.His321Asp	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361330C>G	UniProt
rs587777033	p.His321Asp	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (cdcbm3)	NC_000005.10:g.62361330C>G	gnomAD
rs587777033	p.His321Tyr	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (cdcbm3)	NC_000005.10:g.62361330C>T	gnomAD
rs752464946	p.Asp326Glu	missense variant	-	NC_000005.10:g.62361480C>G	ExAC,gnomAD
rs1221139550	p.Asp326Tyr	missense variant	-	NC_000005.10:g.62361478G>T	gnomAD
rs958348972	p.Asn331Ser	missense variant	-	NC_000005.10:g.62361494A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly337Ter	stop gained	-	NC_000005.10:g.62361511G>T	NCI-TCGA
rs1229150927	p.Ile338Val	missense variant	-	NC_000005.10:g.62361514A>G	TOPMed
rs758143705	p.Ala342Thr	missense variant	-	NC_000005.10:g.62361526G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg344Ter	stop gained	-	NC_000005.10:g.62362452C>T	NCI-TCGA
NCI-TCGA novel	p.Arg344Gln	missense variant	-	NC_000005.10:g.62362453G>A	NCI-TCGA
rs1210823198	p.Asp345Glu	missense variant	-	NC_000005.10:g.62362457T>A	gnomAD
rs184854117	p.Met349Ile	missense variant	-	NC_000005.10:g.62362469G>T	1000Genomes
rs1480810000	p.Leu350Arg	missense variant	-	NC_000005.10:g.62362471T>G	TOPMed
rs767803536	p.Lys351Arg	missense variant	-	NC_000005.10:g.62362474A>G	ExAC,gnomAD
rs867546096	p.Lys351Asn	missense variant	-	NC_000005.10:g.62362475G>T	gnomAD
rs368021683	p.Tyr355Cys	missense variant	-	NC_000005.10:g.62362486A>G	ESP,ExAC,TOPMed,gnomAD
rs1385212736	p.Lys356Arg	missense variant	-	NC_000005.10:g.62362489A>G	gnomAD
rs1238277530	p.Tyr363Phe	missense variant	-	NC_000005.10:g.62362510A>T	gnomAD
rs1242846187	p.Thr365Ala	missense variant	-	NC_000005.10:g.62362515A>G	TOPMed
rs768385599	p.Arg380Lys	missense variant	-	NC_000005.10:g.62363197G>A	ExAC,gnomAD
rs767859496	p.Thr382Ile	missense variant	-	NC_000005.10:g.62363203C>T	ExAC,gnomAD
rs766447107	p.Val394Ile	missense variant	-	NC_000005.10:g.62363238G>A	ExAC,gnomAD
COSM5071323	p.Gln395Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62363241C>T	NCI-TCGA Cosmic
rs111864686	p.Arg402Trp	missense variant	-	NC_000005.10:g.62363262C>T	TOPMed
rs754348400	p.Arg402Gln	missense variant	-	NC_000005.10:g.62363263G>A	ExAC,gnomAD
COSM3920233	p.Glu403Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363266A>G	NCI-TCGA Cosmic
rs755527027	p.Val404Ala	missense variant	-	NC_000005.10:g.62363269T>C	ExAC,gnomAD
rs779248435	p.Cys406Tyr	missense variant	-	NC_000005.10:g.62363275G>A	ExAC,TOPMed,gnomAD
rs371821790	p.Asp409Asn	missense variant	-	NC_000005.10:g.62363283G>A	ESP,TOPMed
rs1464122593	p.Val410Ile	missense variant	-	NC_000005.10:g.62363286G>A	gnomAD
rs1411894581	p.Ile416Met	missense variant	-	NC_000005.10:g.62363306A>G	gnomAD
rs1321929246	p.Asn418Ser	missense variant	-	NC_000005.10:g.62363311A>G	gnomAD
NCI-TCGA novel	p.Ser419Asn	missense variant	-	NC_000005.10:g.62363314G>A	NCI-TCGA
rs1242069125	p.Gly424Ser	missense variant	-	NC_000005.10:g.62363702G>A	gnomAD
COSM3855799	p.Gln425Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363705C>G	NCI-TCGA Cosmic
RCV000521852	p.Ser427Pro	missense variant	-	NC_000005.10:g.62363711T>C	ClinVar
rs1554042228	p.Ser427Pro	missense variant	-	NC_000005.10:g.62363711T>C	-
COSM3855801	p.Ala428Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363714G>A	NCI-TCGA Cosmic
rs1283227353	p.His431Arg	missense variant	-	NC_000005.10:g.62363724A>G	gnomAD
NCI-TCGA novel	p.Ser432Ter	stop gained	-	NC_000005.10:g.62363727C>A	NCI-TCGA
COSM1438084	p.Arg434Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363733G>A	NCI-TCGA Cosmic
rs1283657709	p.Arg445Lys	missense variant	-	NC_000005.10:g.62363766G>A	gnomAD
rs1205655229	p.Lys446Gln	missense variant	-	NC_000005.10:g.62363768A>C	gnomAD
NCI-TCGA novel	p.Leu455IlePheSerTerUnkUnk	frameshift	-	NC_000005.10:g.62363794_62363800TCTCATT>-	NCI-TCGA
NCI-TCGA novel	p.Ser468Pro	missense variant	-	NC_000005.10:g.62363834T>C	NCI-TCGA
rs1459374015	p.Ser469Gly	missense variant	-	NC_000005.10:g.62363837A>G	TOPMed
NCI-TCGA novel	p.Ala470Val	missense variant	-	NC_000005.10:g.62363841C>T	NCI-TCGA
rs372239097	p.Ser484Arg	missense variant	-	NC_000005.10:g.62363884C>A	ESP,ExAC,TOPMed,gnomAD
rs1402946368	p.Arg497Gly	missense variant	-	NC_000005.10:g.62365264A>G	gnomAD
rs754604635	p.Asn498Ser	missense variant	-	NC_000005.10:g.62365268A>G	ExAC,gnomAD
RCV000624330	p.Asn498Ser	missense variant	Inborn genetic diseases	NC_000005.10:g.62365268A>G	ClinVar
rs201066401	p.Thr502Asn	missense variant	-	NC_000005.10:g.62365280C>A	1000Genomes,ExAC,gnomAD
rs1310318091	p.Ala506Val	missense variant	-	NC_000005.10:g.62365292C>T	gnomAD
rs1205718714	p.Asp515Asn	missense variant	-	NC_000005.10:g.62365318G>A	gnomAD
NCI-TCGA novel	p.Ser516Cys	missense variant	-	NC_000005.10:g.62365322C>G	NCI-TCGA
rs770617593	p.Ile518Thr	missense variant	-	NC_000005.10:g.62365328T>C	ExAC,gnomAD
rs781542903	p.Gly519Ser	missense variant	-	NC_000005.10:g.62365330G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg523His	missense variant	-	NC_000005.10:g.62365343G>A	NCI-TCGA
rs746047504	p.Arg523Cys	missense variant	-	NC_000005.10:g.62365342C>T	ExAC,gnomAD
rs1222284110	p.Ile527Phe	missense variant	-	NC_000005.10:g.62366414A>T	gnomAD
rs1481727417	p.Ser536Phe	missense variant	-	NC_000005.10:g.62366442C>T	gnomAD
COSM3994368	p.Asn548Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62366477A>T	NCI-TCGA Cosmic
COSM3828258	p.Glu552Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62373694G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val555Ala	missense variant	-	NC_000005.10:g.62373704T>C	NCI-TCGA
rs1233263818	p.Pro557Thr	missense variant	-	NC_000005.10:g.62373709C>A	gnomAD
rs1471087520	p.Thr558Ala	missense variant	-	NC_000005.10:g.62373712A>G	gnomAD
rs1189394916	p.Thr558Ile	missense variant	-	NC_000005.10:g.62373713C>T	gnomAD
rs139442261	p.Arg564His	missense variant	-	NC_000005.10:g.62373731G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771417898	p.Arg564Cys	missense variant	-	NC_000005.10:g.62373730C>T	ExAC,gnomAD
rs370786223	p.Ile566Leu	missense variant	-	NC_000005.10:g.62373736A>T	ESP,ExAC,TOPMed,gnomAD
rs773766669	p.Met567Ile	missense variant	-	NC_000005.10:g.62373741G>A	ExAC,gnomAD
rs750108492	p.Met567Arg	missense variant	-	NC_000005.10:g.62373740T>G	ExAC,gnomAD
rs750108492	p.Met567Thr	missense variant	-	NC_000005.10:g.62373740T>C	ExAC,gnomAD
rs761320629	p.His568Pro	missense variant	-	NC_000005.10:g.62373743A>C	ExAC,gnomAD
rs761320629	p.His568Arg	missense variant	-	NC_000005.10:g.62373743A>G	ExAC,gnomAD
rs1444894205	p.Pro570Leu	missense variant	-	NC_000005.10:g.62373749C>T	gnomAD
rs1331898817	p.Asn572Lys	missense variant	-	NC_000005.10:g.62373756C>A	TOPMed
rs1325703693	p.Ile574Phe	missense variant	-	NC_000005.10:g.62373760A>T	TOPMed
rs141548628	p.Ile574Thr	missense variant	-	NC_000005.10:g.62373761T>C	ESP,ExAC,TOPMed,gnomAD
rs766134070	p.Asp576Glu	missense variant	-	NC_000005.10:g.62373768C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp576Asn	missense variant	-	NC_000005.10:g.62373766G>A	NCI-TCGA
rs754112220	p.Gln580Pro	missense variant	-	NC_000005.10:g.62373779A>C	ExAC,gnomAD
rs755183498	p.Trp581Ter	stop gained	-	NC_000005.10:g.62373782G>A	ExAC,gnomAD
rs1273365993	p.Gly582Ala	missense variant	-	NC_000005.10:g.62373785G>C	gnomAD
rs779121896	p.Ser585Thr	missense variant	-	NC_000005.10:g.62373794G>C	ExAC,gnomAD
rs748185496	p.Gln588His	missense variant	-	NC_000005.10:g.62373804G>T	ExAC,TOPMed,gnomAD
rs748185496	p.Gln588His	missense variant	-	NC_000005.10:g.62373804G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp591Tyr	missense variant	-	NC_000005.10:g.62373811G>T	NCI-TCGA
rs778490530	p.Leu595Pro	missense variant	-	NC_000005.10:g.62373824T>C	ExAC,gnomAD
COSM1069248	p.Leu595Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62373823C>A	NCI-TCGA Cosmic
rs747484896	p.Gln598Arg	missense variant	-	NC_000005.10:g.62373833A>G	ExAC,gnomAD
COSM3776771	p.Gln598His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62373834A>C	NCI-TCGA Cosmic
rs752958193	p.Val603Ile	missense variant	-	NC_000005.10:g.62377670G>A	ExAC,gnomAD
rs1052613653	p.Glu612Lys	missense variant	-	NC_000005.10:g.62377697G>A	TOPMed
rs781738321	p.Gln623Glu	missense variant	-	NC_000005.10:g.62377730C>G	ExAC,gnomAD
rs1320818197	p.Arg629Lys	missense variant	-	NC_000005.10:g.62377749G>A	TOPMed
rs1335167902	p.Val631Gly	missense variant	-	NC_000005.10:g.62377755T>G	gnomAD
NCI-TCGA novel	p.Glu634Ter	stop gained	-	NC_000005.10:g.62381118G>T	NCI-TCGA
rs763258220	p.Ile636Val	missense variant	-	NC_000005.10:g.62381124A>G	ExAC,gnomAD
rs1195921358	p.Arg637Gln	missense variant	-	NC_000005.10:g.62381128G>A	TOPMed
rs764372768	p.Arg637Trp	missense variant	-	NC_000005.10:g.62381127C>T	ExAC,gnomAD
rs751694383	p.Glu640Asp	missense variant	-	NC_000005.10:g.62381138A>T	ExAC,TOPMed,gnomAD
rs1340819916	p.Glu640Lys	missense variant	-	NC_000005.10:g.62381136G>A	TOPMed
rs1183163237	p.Asp641His	missense variant	-	NC_000005.10:g.62381139G>C	TOPMed,gnomAD
COSM1438088	p.Lys643ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62381143A>-	NCI-TCGA Cosmic
rs61748225	p.Ala644Ser	missense variant	-	NC_000005.10:g.62381148G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000603646	p.Ala644Thr	missense variant	-	NC_000005.10:g.62381148G>A	ClinVar
rs61748225	p.Ala644Thr	missense variant	-	NC_000005.10:g.62381148G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3828260	p.Ala644Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62381149C>T	NCI-TCGA Cosmic
rs1175132161	p.Met648Ile	missense variant	-	NC_000005.10:g.62381162G>A	TOPMed,gnomAD
rs1335456929	p.Thr649Asn	missense variant	-	NC_000005.10:g.62381164C>A	TOPMed
rs1467277470	p.Glu651Val	missense variant	-	NC_000005.10:g.62381170A>T	gnomAD
rs1296177376	p.Val656Ala	missense variant	-	NC_000005.10:g.62381185T>C	gnomAD
COSM482944	p.Ser658Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62381191C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu664Lys	missense variant	-	NC_000005.10:g.62381208G>A	NCI-TCGA
NCI-TCGA novel	p.Ala665Gly	missense variant	-	NC_000005.10:g.62381212C>G	NCI-TCGA
rs1309040593	p.Ile666Thr	missense variant	-	NC_000005.10:g.62381215T>C	gnomAD
NCI-TCGA novel	p.Ile671LysPheSerTerUnk	frameshift	-	NC_000005.10:g.62381230T>-	NCI-TCGA
rs756478314	p.Asp672Glu	missense variant	-	NC_000005.10:g.62381234C>G	ExAC,gnomAD
rs144092095	p.Thr675Ala	missense variant	-	NC_000005.10:g.62381241A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370754960	p.Thr675Ser	missense variant	-	NC_000005.10:g.62381242C>G	ESP,ExAC,TOPMed,gnomAD
rs1212521093	p.Glu676Lys	missense variant	-	NC_000005.10:g.62381244G>A	gnomAD
rs777345819	p.Arg678Gln	missense variant	-	NC_000005.10:g.62381251G>A	ExAC,gnomAD
rs771712968	p.Arg678Trp	missense variant	-	NC_000005.10:g.62381250C>T	ExAC,gnomAD
rs1222410390	p.Asp679Gly	missense variant	-	NC_000005.10:g.62385484A>G	gnomAD
NCI-TCGA novel	p.Val681Glu	missense variant	-	NC_000005.10:g.62385490T>A	NCI-TCGA
COSM738428	p.Ser683Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62385496C>G	NCI-TCGA Cosmic
COSM282238	p.Ser683Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62385496C>A	NCI-TCGA Cosmic
rs1314600069	p.Arg685Cys	missense variant	-	NC_000005.10:g.62385501C>T	TOPMed,gnomAD
rs865783903	p.Arg685His	missense variant	-	NC_000005.10:g.62385502G>A	gnomAD
rs865783903	p.Arg685Leu	missense variant	-	NC_000005.10:g.62385502G>T	gnomAD
rs1260569794	p.Ala687Val	missense variant	-	NC_000005.10:g.62385508C>T	gnomAD
rs1460358579	p.Gln689Arg	missense variant	-	NC_000005.10:g.62385514A>G	TOPMed
NCI-TCGA novel	p.Ile698Ser	missense variant	-	NC_000005.10:g.62385541T>G	NCI-TCGA
rs1423841609	p.Asn699Asp	missense variant	-	NC_000005.10:g.62385543A>G	gnomAD
rs1351592249	p.Pro700Leu	missense variant	-	NC_000005.10:g.62385547C>T	TOPMed,gnomAD
rs780774764	p.Arg704His	missense variant	-	NC_000005.10:g.62385559G>A	ExAC,gnomAD
rs1002718601	p.Arg704Cys	missense variant	-	NC_000005.10:g.62385558C>T	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0014544	Epilepsy	disease	HPO
C0017638	Glioma	disease	BEFREE
C0025958	Microcephaly	disease	CTD_human
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036572	Seizures	phenotype	HPO
C0155626	Acute myocardial infarction	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0266463	Lissencephaly	disease	HPO
C0266483	Pachygyria	disease	HPO
C0342793	Malonic aciduria	disease	BEFREE
C0344482	Hypoplasia of corpus callosum	disease	HPO
C0424688	Small head	phenotype	HPO
C0426970	Spastic Quadriplegia	disease	HPO
C0431375	Classical Lissencephaly	disease	BEFREE
C0431380	Cortical Dysplasia	disease	CTD_human;HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0557874	Global developmental delay	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1636149	Macular dystrophy, corneal type 1	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C1879312	Agyria	disease	HPO
C1955869	Malformations of Cortical Development	group	CTD_human;GENOMICS_ENGLAND
C1956147	Microlissencephaly	disease	CTD_human
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3809414	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3	disease	CLINVAR;CTD_human;UNIPROT
C3853041	Severe Congenital Microcephaly	disease	CTD_human
C4020875	Mental and motor retardation	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003774	motor activity	TAS
GO:0003777	microtubule motor activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0008017	microtubule binding	IBA
GO:0008017	microtubule binding	IDA
GO:0016887	ATPase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000226	microtubule cytoskeleton organization	IGI
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS
GO:0007018	microtubule-based movement	IBA
GO:0007018	microtubule-based movement	TAS
GO:0007019	microtubule depolymerization	TAS
GO:0007052	mitotic spindle organization	IDA
GO:0007399	nervous system development	IEA
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030154	cell differentiation	IEA
GO:0030334	regulation of cell migration	IGI
GO:0051301	cell division	IEA
GO:0090307	mitotic spindle assembly	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005730	nucleolus	IDA
GO:0005737	cytoplasm	IDA
GO:0005813	centrosome	IDA
GO:0005813	centrosome	IBA
GO:0005814	centriole	IDA
GO:0005819	spindle	IBA
GO:0005829	cytosol	TAS
GO:0005871	kinesin complex	IBA
GO:0005874	microtubule	IBA
GO:0016020	membrane	HDA
GO:0016604	nuclear body	IDA
GO:0097228	sperm principal piece	IEA
GO:0120103	centriolar subdistal appendage	IDA
GO:0000922	spindle pole	IDA
GO:0005874	microtubule	IDA
GO:0005876	spindle microtubule	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109582	Hemostasis	TAS
R-HSA-1280218	Adaptive Immune System	TAS
R-HSA-141424	Amplification of signal from the kinetochores	TAS
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1640170	Cell Cycle	TAS
R-HSA-168256	Immune System	TAS
R-HSA-194315	Signaling by Rho GTPases	TAS
R-HSA-195258	RHO GTPase Effectors	TAS
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-2132295	MHC class II antigen presentation	TAS
R-HSA-2467813	Separation of Sister Chromatids	TAS
R-HSA-2500257	Resolution of Sister Chromatid Cohesion	TAS
R-HSA-2555396	Mitotic Metaphase and Anaphase	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-5663220	RHO GTPases Activate Formins	TAS
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic	TAS
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic	TAS
R-HSA-68877	Mitotic Prometaphase	TAS
R-HSA-68882	Mitotic Anaphase	TAS
R-HSA-68886	M Phase	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS
R-HSA-69618	Mitotic Spindle Checkpoint	TAS
R-HSA-69620	Cell Cycle Checkpoints	TAS
R-HSA-8856688	Golgi-to-ER retrograde transport	TAS
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation	TAS
R-HSA-983189	Kinesins	TAS
R-HSA-983231	Factors involved in megakaryocyte development and platelet production	TAS

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 decreased expression of KIF2A mRNA	19114083
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in decreased ADP-ribosylation of KIF2A protein	31165168
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of KIF2A mRNA	19150397; 20382639;
D000082	Acetaminophen	Acetaminophen affects the expression of KIF2A mRNA	17562736
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of KIF2A mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of KIF2A mRNA]	17585979
D020106	Acrylamide	Acrylamide results in decreased expression of KIF2A mRNA	30807115
D020106	Acrylamide	Acrylamide results in increased expression of KIF2A mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of KIF2A protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of KIF2A mRNA	22100608; 27153756;
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of KIF2A mRNA	16483693
C044887	beta-methylcholine	beta-methylcholine affects the expression of KIF2A mRNA	21179406
C006780	bisphenol A	bisphenol A affects the localization of KIF2A protein	30980863
C006780	bisphenol A	bisphenol A results in decreased methylation of KIF2A promoter	27312807
C006780	bisphenol A	[bisphenol A co-treated with tributyltin] results in decreased expression of KIF2A mRNA	31129395
C006780	bisphenol A	bisphenol A results in decreased expression of KIF2A mRNA	25181051
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of KIF2A mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of KIF2A mRNA]	17585979
D019327	Copper Sulfate	Copper Sulfate results in increased expression of KIF2A mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of KIF2A mRNA	20106945; 25562108;
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of KIF2A mRNA]	27941970
D003993	Dibutyl Phthalate	Dibutyl Phthalate affects the expression of KIF2A mRNA	30934153
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of KIF2A mRNA	21266533
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of KIF2A mRNA	22129741
D052244	Endocrine Disruptors	Endocrine Disruptors results in increased expression of KIF2A mRNA	25198161
D000431	Ethanol	Ethanol affects the splicing of KIF2A mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of KIF2A mRNA	28973697
D005557	Formaldehyde	Formaldehyde results in decreased expression of KIF2A mRNA	20655997
C039281	furan	furan results in increased expression of KIF2A mRNA	26194646
D005839	Gentamicins	Gentamicins results in increased expression of KIF2A mRNA	22061828
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of KIF2A mRNA	20044591
D006862	Hydrogen Sulfide	Hydrogen Sulfide results in decreased expression of KIF2A protein	29932956
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of KIF2A mRNA	22129741
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of KIF2A mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of KIF2A mRNA	27392435
C410337	K 7174	K 7174 results in increased expression of KIF2A mRNA	24086573
D007854	Lead	Lead affects the splicing of KIF2A mRNA	28903495
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in decreased expression of KIF2A mRNA	24972896
D000077276	Lycopene	Lycopene results in increased expression of KIF2A mRNA	16886892
D008694	Methamphetamine	Methamphetamine results in decreased expression of KIF2A mRNA	29802913
D009532	Nickel	Nickel results in increased expression of KIF2A mRNA	25583101
D010634	Phenobarbital	Phenobarbital affects the expression of KIF2A mRNA	19159669
D010634	Phenobarbital	Phenobarbital affects the expression of KIF2A mRNA	23091169
D010795	Phthalic Acids	Phthalic Acids results in increased expression of KIF2A mRNA	21061450
D011794	Quercetin	Quercetin results in decreased expression of KIF2A mRNA	21632981
C017947	sodium arsenite	sodium arsenite results in decreased expression of KIF2A mRNA	22714537
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of KIF2A protein	28918527
C061133	tamibarotene	tamibarotene results in decreased expression of KIF2A mRNA	15498508
C045037	testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	testosterone-3-carboxymethyloxime-bovine serum albumin conjugate affects the expression of KIF2A mRNA	20189893
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of KIF2A mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to KIF2A promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of KIF2A mRNA	19770486
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of KIF2A mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in increased expression of KIF2A mRNA	23411599
D014050	Toluene	Toluene results in decreased expression of KIF2A mRNA	22166486
D014050	Toluene	Toluene results in increased expression of KIF2A mRNA	22166486
D014204	Trenbolone Acetate	Trenbolone Acetate results in increased expression of KIF2A mRNA	25198161
D014212	Tretinoin	Tretinoin results in decreased expression of KIF2A mRNA	15498508
C011559	tributyltin	[bisphenol A co-treated with tributyltin] results in decreased expression of KIF2A mRNA	31129395
D014414	Tungsten	Tungsten results in decreased expression of KIF2A mRNA	30912803
D014635	Valproic Acid	Valproic Acid affects the expression of KIF2A mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of KIF2A mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of KIF2A mRNA	29154799
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in increased expression of KIF2A mRNA	25198161

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0131	Cell cycle
KW-0132	Cell division
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0451	Lissencephaly
KW-0493	Microtubule
KW-0498	Mitosis
KW-0505	Motor protein
KW-0524	Neurogenesis
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR027640	Kinesin-like_fam
IPR019821	Kinesin_motor_CS
IPR001752	Kinesin_motor_dom
IPR036961	Kinesin_motor_dom_sf
IPR027417	P-loop_NTPase

PROSITE

PROSITE ID	PROSITE Term
PS00411	KINESIN_MOTOR_1
PS50067	KINESIN_MOTOR_2

Pfam

Pfam ID	Pfam Term
PF00225	Kinesin

Gene: KIF2A

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