CleftGeneDB-Search

Gene: PBX3

Basic information

Tag	Content
Uniprot ID	Q5JS98
Entrez ID	5090
Genbank protein ID
Genbank nucleotide ID	XM_006717130.1
Ensembl protein ID	ENSP00000362586
Ensembl nucleotide ID	ENSG00000167081
Gene name	Pre-B-cell leukemia transcription factor 3
Gene symbol	PBX3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MDDQSRMLQT LAGVNLAGHS VQGGMALPPP PHGHEGADGD GRKQDIGDIL HQIMTITDQS 60 LDEAQAKKHA LNCHRMKPAL FSVLCEIKEK TGLSIRGAQE EDPPDPQLMR LDNMLLAEGV 120 SGPEKGGGSA AAAAAAAASG GSSDNSIEHS DYRAKLTQIR QIYHTELEKY EQACNEFTTH 180 VMNLLREQSR TRPISPKEIE RMVGIIHRKF SSIQMQLKQS TCEAVMILRS RFLDARRKRR 240 NFSKQATEIL NEYFYSHLSN PYPSEEAKEE LAKKCSITVS QSLVKDPKER GSKGSDIQPT 300 SVVSNWFGNK RIRYKKNIGK FQEEANLYAA KTAVTAAHAV AAAVQNNQTN SPTTPNSGSS 360 GSFNLPNSGD MFMNMQSLNG DSYQGSQVGA NVQSQVDTLR HVINQTGGYS DGLGGNSLYS 420 PHNLNANGGW QDATTPSSVT SPTEGPGSVH SDTSN 455

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

There is no related protein structure for this gene.

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PBX3	102187055	A0A452FB25		Capra hircus	Prediction	More>>
1:1 ortholog	PBX3	5090	Q5JS98		Homo sapiens	Prediction	More>>
1:1 ortholog	Pbx3	18516	O35317	CPO,CLP	Mus musculus	Publication	More>>
1:1 ortholog	PBX3	464737	A0A2I3THW7		Pan troglodytes	Prediction	More>>
1:1 ortholog	PBX3		A0A286ZZ07		Sus scrofa	Prediction	More>>
1:1 ortholog	PBX3		G1T307		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Pbx3	311876	D4AB31		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1219557531	p.Asp2Asn	missense variant	-	NC_000009.12:g.125747457G>A	TOPMed
rs1342125873	p.Asp3Asn	missense variant	-	NC_000009.12:g.125747460G>A	TOPMed
rs1451675407	p.Gln4Glu	missense variant	-	NC_000009.12:g.125747463C>G	TOPMed,gnomAD
rs1191771334	p.Ser5Phe	missense variant	-	NC_000009.12:g.125747467C>T	gnomAD
rs1451326166	p.Arg6Lys	missense variant	-	NC_000009.12:g.125747470G>A	gnomAD
rs1169107780	p.Met7Leu	missense variant	-	NC_000009.12:g.125747472A>T	gnomAD
rs370064871	p.Leu8Val	missense variant	-	NC_000009.12:g.125747475C>G	ESP,ExAC,TOPMed,gnomAD
rs1456162755	p.Gln9Pro	missense variant	-	NC_000009.12:g.125747479A>C	gnomAD
rs777159965	p.Gly13Arg	missense variant	-	NC_000009.12:g.125747490G>A	ExAC,gnomAD
rs1331800511	p.Leu16Pro	missense variant	-	NC_000009.12:g.125747500T>C	TOPMed
rs1476859332	p.Ala17Val	missense variant	-	NC_000009.12:g.125747503C>T	TOPMed,gnomAD
rs1321525560	p.Ser20Leu	missense variant	-	NC_000009.12:g.125747512C>T	TOPMed,gnomAD
rs761376072	p.Val21Glu	missense variant	-	NC_000009.12:g.125747515T>A	ExAC,TOPMed,gnomAD
rs1207705457	p.Gln22Glu	missense variant	-	NC_000009.12:g.125747517C>G	gnomAD
rs1245707280	p.Gly23Arg	missense variant	-	NC_000009.12:g.125747520G>A	gnomAD
rs767283062	p.Gly23Ala	missense variant	-	NC_000009.12:g.125747521G>C	ExAC,gnomAD
rs1421849541	p.Met25Val	missense variant	-	NC_000009.12:g.125747526A>G	TOPMed,gnomAD
rs766389213	p.Met25Lys	missense variant	-	NC_000009.12:g.125747527T>A	ExAC,gnomAD
rs753875955	p.Ala26Thr	missense variant	-	NC_000009.12:g.125747529G>A	ExAC,TOPMed,gnomAD
rs755059483	p.Ala26Val	missense variant	-	NC_000009.12:g.125747530C>T	ExAC,gnomAD
rs1437313624	p.Pro28Leu	missense variant	-	NC_000009.12:g.125747536C>T	TOPMed,gnomAD
rs765268845	p.Pro28Ser	missense variant	-	NC_000009.12:g.125747535C>T	ExAC,gnomAD
rs1379006585	p.Pro29Ser	missense variant	-	NC_000009.12:g.125747538C>T	gnomAD
rs752900950	p.Pro30Thr	missense variant	-	NC_000009.12:g.125747541C>A	ExAC,TOPMed,gnomAD
rs752900950	p.Pro30Ser	missense variant	-	NC_000009.12:g.125747541C>T	ExAC,TOPMed,gnomAD
rs1424577500	p.Pro31Leu	missense variant	-	NC_000009.12:g.125747545C>T	TOPMed,gnomAD
rs758564832	p.Pro31Ser	missense variant	-	NC_000009.12:g.125747544C>T	ExAC,gnomAD
rs1457753272	p.His32Gln	missense variant	-	NC_000009.12:g.125747549C>A	TOPMed,gnomAD
rs747340090	p.Gly33Val	missense variant	-	NC_000009.12:g.125747551G>T	ExAC,TOPMed,gnomAD
rs778122036	p.Gly33Ser	missense variant	-	NC_000009.12:g.125747550G>A	ExAC,gnomAD
rs757663887	p.His34Pro	missense variant	-	NC_000009.12:g.125747554A>C	ExAC,gnomAD
rs781625025	p.His34Gln	missense variant	-	NC_000009.12:g.125747555C>G	ExAC,TOPMed,gnomAD
rs1183498146	p.Glu35Gln	missense variant	-	NC_000009.12:g.125747556G>C	gnomAD
rs1183498146	p.Glu35Lys	missense variant	-	NC_000009.12:g.125747556G>A	gnomAD
rs1309471066	p.Gly36Val	missense variant	-	NC_000009.12:g.125747560G>T	TOPMed
rs768144138	p.Ala37Thr	missense variant	-	NC_000009.12:g.125747562G>A	ExAC,gnomAD
rs1472116570	p.Ala37Val	missense variant	-	NC_000009.12:g.125747563C>T	TOPMed,gnomAD
rs1409941554	p.Asp38Gly	missense variant	-	NC_000009.12:g.125747566A>G	gnomAD
rs142427880	p.Gly39Ser	missense variant	-	NC_000009.12:g.125747568G>A	ESP,ExAC,TOPMed,gnomAD
rs1008224254	p.Gly41Val	missense variant	-	NC_000009.12:g.125747575G>T	TOPMed,gnomAD
rs1358644789	p.Gly41Ser	missense variant	-	NC_000009.12:g.125747574G>A	gnomAD
rs771621196	p.Arg42Met	missense variant	-	NC_000009.12:g.125747578G>T	ExAC,gnomAD
rs74704804	p.Lys43Gln	missense variant	-	NC_000009.12:g.125747580A>C	TOPMed,gnomAD
rs74704804	p.Lys43Glu	missense variant	-	NC_000009.12:g.125747580A>G	TOPMed,gnomAD
rs571215823	p.Gln44Arg	missense variant	-	NC_000009.12:g.125747584A>G	1000Genomes,ExAC,gnomAD
rs760524157	p.Asp45Asn	missense variant	-	NC_000009.12:g.125747586G>A	ExAC,gnomAD
rs1165582803	p.Asp45Gly	missense variant	-	NC_000009.12:g.125747587A>G	TOPMed
rs766299287	p.Ile46Val	missense variant	-	NC_000009.12:g.125747589A>G	ExAC,gnomAD
rs1300043386	p.Gly47Ser	missense variant	-	NC_000009.12:g.125747592G>A	gnomAD
rs776674550	p.Asp48Asn	missense variant	-	NC_000009.12:g.125747595G>A	ExAC,gnomAD
rs759400160	p.Ile49Leu	missense variant	-	NC_000009.12:g.125747598A>C	ExAC,gnomAD
rs533880904	p.His51Gln	missense variant	-	NC_000009.12:g.125747606C>G	1000Genomes,ExAC,gnomAD
rs150874436	p.Met54Ile	missense variant	-	NC_000009.12:g.125747615G>A	ESP,ExAC,TOPMed,gnomAD
rs758542924	p.Thr55Ile	missense variant	-	NC_000009.12:g.125747617C>T	ExAC,gnomAD
rs1253685794	p.Ile56Val	missense variant	-	NC_000009.12:g.125747619A>G	gnomAD
rs764276074	p.Asp58Glu	missense variant	-	NC_000009.12:g.125747627C>A	ExAC,TOPMed,gnomAD
rs781541413	p.Asp62Glu	missense variant	-	NC_000009.12:g.125747639C>A	ExAC,TOPMed,gnomAD
rs757573908	p.Asp62Asn	missense variant	-	NC_000009.12:g.125747637G>A	ExAC,gnomAD
rs1178908228	p.Gln65His	missense variant	-	NC_000009.12:g.125747648A>T	gnomAD
rs1306640238	p.Lys67Met	missense variant	-	NC_000009.12:g.125747653A>T	gnomAD
rs757807700	p.Ala70Gly	missense variant	-	NC_000009.12:g.125748558C>G	ExAC,gnomAD
rs1227462791	p.Ala70Ser	missense variant	-	NC_000009.12:g.125748557G>T	gnomAD
rs777431167	p.Cys73Tyr	missense variant	-	NC_000009.12:g.125748567G>A	ExAC,gnomAD
rs372548249	p.Ala79Gly	missense variant	-	NC_000009.12:g.125748585C>G	ESP,ExAC,TOPMed,gnomAD
rs372548249	p.Ala79Val	missense variant	-	NC_000009.12:g.125748585C>T	ESP,ExAC,TOPMed,gnomAD
rs1475956028	p.Ser82Arg	missense variant	-	NC_000009.12:g.125748595C>G	TOPMed,gnomAD
rs1250377330	p.Ser82Asn	missense variant	-	NC_000009.12:g.125748594G>A	gnomAD
rs1163094321	p.Val83Ile	missense variant	-	NC_000009.12:g.125748596G>A	gnomAD
rs745624717	p.Val83Ala	missense variant	-	NC_000009.12:g.125748597T>C	ExAC,TOPMed,gnomAD
rs1162862648	p.Glu86Gln	missense variant	-	NC_000009.12:g.125748605G>C	TOPMed,gnomAD
rs527311115	p.Glu86Asp	missense variant	-	NC_000009.12:g.125748607G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs527311115	p.Glu86Asp	missense variant	-	NC_000009.12:g.125748607G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1370595136	p.Ile87Thr	missense variant	-	NC_000009.12:g.125748609T>C	gnomAD
rs199866010	p.Glu89Asp	missense variant	-	NC_000009.12:g.125748616G>C	1000Genomes,ExAC,gnomAD
rs773356079	p.Ser94Gly	missense variant	-	NC_000009.12:g.125915691A>G	ExAC,gnomAD
rs747120199	p.Gln99Glu	missense variant	-	NC_000009.12:g.125915706C>G	ExAC,gnomAD
rs140051153	p.Gln99His	missense variant	-	NC_000009.12:g.125915708G>C	ESP,ExAC,TOPMed,gnomAD
rs776761260	p.Asp105Asn	missense variant	-	NC_000009.12:g.125915724G>A	ExAC,TOPMed,gnomAD
rs759959963	p.Pro106Leu	missense variant	-	NC_000009.12:g.125915728C>T	ExAC,TOPMed,gnomAD
rs763563551	p.Ala117Thr	missense variant	-	NC_000009.12:g.125915760G>A	ExAC,gnomAD
rs1355292784	p.Val120Phe	missense variant	-	NC_000009.12:g.125915769G>T	gnomAD
rs1207671653	p.Gly122Arg	missense variant	-	NC_000009.12:g.125915775G>C	gnomAD
rs764566026	p.Gly126Cys	missense variant	-	NC_000009.12:g.125915787G>T	ExAC,TOPMed,gnomAD
rs749944206	p.Ser129Leu	missense variant	-	NC_000009.12:g.125915797C>T	ExAC,TOPMed,gnomAD
rs376106319	p.Ala130Val	missense variant	-	NC_000009.12:g.125915800C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754730113	p.Ala131Thr	missense variant	-	NC_000009.12:g.125915802G>A	ExAC,gnomAD
rs778685108	p.Ala133Thr	missense variant	-	NC_000009.12:g.125915808G>A	ExAC,TOPMed,gnomAD
rs1427310701	p.Ala135Val	missense variant	-	NC_000009.12:g.125915815C>T	TOPMed
rs1457639084	p.Ala135Ser	missense variant	-	NC_000009.12:g.125915814G>T	gnomAD
rs145687528	p.Ala136Val	missense variant	-	NC_000009.12:g.125915818C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748021321	p.Ala136Thr	missense variant	-	NC_000009.12:g.125915817G>A	ExAC,TOPMed,gnomAD
rs747083036	p.Ala137Pro	missense variant	-	NC_000009.12:g.125915820G>C	ExAC,TOPMed,gnomAD
rs747083036	p.Ala137Thr	missense variant	-	NC_000009.12:g.125915820G>A	ExAC,TOPMed,gnomAD
rs369511204	p.Asp144His	missense variant	-	NC_000009.12:g.125915841G>C	ESP,TOPMed,gnomAD
rs770967440	p.Asn145Asp	missense variant	-	NC_000009.12:g.125915844A>G	ExAC
rs114889309	p.Asn145Ser	missense variant	-	NC_000009.12:g.125915845A>G	1000Genomes,TOPMed
rs781521763	p.Ser146Ala	missense variant	-	NC_000009.12:g.125915847T>G	ExAC,gnomAD
rs781521763	p.Ser146Pro	missense variant	-	NC_000009.12:g.125915847T>C	ExAC,gnomAD
rs746089781	p.Ser146Cys	missense variant	-	NC_000009.12:g.125915848C>G	ExAC,gnomAD
rs1242266893	p.Glu148Lys	missense variant	-	NC_000009.12:g.125915853G>A	gnomAD
rs1274623099	p.His149Arg	missense variant	-	NC_000009.12:g.125915857A>G	gnomAD
rs770222083	p.Lys155Arg	missense variant	-	NC_000009.12:g.125915875A>G	ExAC,gnomAD
rs769175931	p.Arg160Gly	missense variant	-	NC_000009.12:g.125915889A>G	ExAC,gnomAD
rs1255243092	p.Tyr163Phe	missense variant	-	NC_000009.12:g.125915899A>T	gnomAD
rs966517514	p.Thr165Ile	missense variant	-	NC_000009.12:g.125915905C>T	TOPMed
rs774767232	p.Thr165Ser	missense variant	-	NC_000009.12:g.125915904A>T	ExAC,gnomAD
rs1342125938	p.Glu168Lys	missense variant	-	NC_000009.12:g.125915913G>A	TOPMed
rs770369947	p.Cys174Arg	missense variant	-	NC_000009.12:g.125929658T>C	ExAC,gnomAD
rs764842480	p.Thr179Ser	missense variant	-	NC_000009.12:g.125929673A>T	ExAC,gnomAD
rs762763325	p.Ile194Val	missense variant	-	NC_000009.12:g.125929718A>G	ExAC,gnomAD
rs552732781	p.Glu198Gly	missense variant	-	NC_000009.12:g.125929731A>G	1000Genomes
rs1364028655	p.Met202Val	missense variant	-	NC_000009.12:g.125929742A>G	TOPMed
rs763798178	p.Gly204Asp	missense variant	-	NC_000009.12:g.125929749G>A	ExAC,TOPMed,gnomAD
rs1204749562	p.Ile205Val	missense variant	-	NC_000009.12:g.125929751A>G	gnomAD
rs751451699	p.His207Arg	missense variant	-	NC_000009.12:g.125929758A>G	ExAC,gnomAD
rs866234715	p.Arg208Ter	stop gained	-	NC_000009.12:g.125929760C>T	TOPMed,gnomAD
rs757125897	p.Arg208Gln	missense variant	-	NC_000009.12:g.125929761G>A	ExAC,TOPMed,gnomAD
rs1453162545	p.Ser211Arg	missense variant	-	NC_000009.12:g.125929771T>G	TOPMed,gnomAD
rs1453162545	p.Ser211Arg	missense variant	-	NC_000009.12:g.125929771T>A	TOPMed,gnomAD
rs905326681	p.Met215Leu	missense variant	-	NC_000009.12:g.125929781A>C	gnomAD
rs905326681	p.Met215Val	missense variant	-	NC_000009.12:g.125929781A>G	gnomAD
rs756309619	p.Thr221Ile	missense variant	-	NC_000009.12:g.125929800C>T	ExAC,gnomAD
rs1355974210	p.Glu223Lys	missense variant	-	NC_000009.12:g.125929805G>A	gnomAD
rs755303268	p.Ile227Val	missense variant	-	NC_000009.12:g.125929817A>G	ExAC,TOPMed,gnomAD
rs1443036967	p.Ser230Ter	stop gained	-	NC_000009.12:g.125929827C>G	gnomAD
rs1280344617	p.Ala235Val	missense variant	-	NC_000009.12:g.125929842C>T	TOPMed
rs747549247	p.Arg237Trp	missense variant	-	NC_000009.12:g.125935473C>T	ExAC,gnomAD
rs1464870108	p.Ser243Gly	missense variant	-	NC_000009.12:g.125935491A>G	gnomAD
rs978086024	p.Ile249Val	missense variant	-	NC_000009.12:g.125935509A>G	TOPMed,gnomAD
rs978086024	p.Ile249Leu	missense variant	-	NC_000009.12:g.125935509A>C	TOPMed,gnomAD
rs1320149348	p.Ser276Gly	missense variant	-	NC_000009.12:g.125935590A>G	gnomAD
rs761648860	p.Val279Leu	missense variant	-	NC_000009.12:g.125935599G>C	ExAC,gnomAD
rs191936904	p.Val284Gly	missense variant	-	NC_000009.12:g.125949385T>G	1000Genomes,ExAC,gnomAD
rs1354826653	p.Val284Ile	missense variant	-	NC_000009.12:g.125949384G>A	TOPMed
rs771936841	p.Asp286Asn	missense variant	-	NC_000009.12:g.125949390G>A	ExAC,gnomAD
rs1284184980	p.Glu289Ter	stop gained	-	NC_000009.12:g.125949399G>T	TOPMed
rs1022903900	p.Glu289Ala	missense variant	-	NC_000009.12:g.125949400A>C	TOPMed,gnomAD
rs1232920285	p.Arg290Lys	missense variant	-	NC_000009.12:g.125949403G>A	TOPMed,gnomAD
rs969977000	p.Arg290Gly	missense variant	-	NC_000009.12:g.125949402A>G	TOPMed
rs1477684466	p.Gly294Val	missense variant	-	NC_000009.12:g.125949415G>T	gnomAD
rs1396693398	p.Pro299Gln	missense variant	-	NC_000009.12:g.125949430C>A	gnomAD
rs1409463748	p.Thr300Ala	missense variant	-	NC_000009.12:g.125949432A>G	TOPMed
rs770304122	p.Ser301Gly	missense variant	-	NC_000009.12:g.125949435A>G	TOPMed,gnomAD
rs980073368	p.Val302Met	missense variant	-	NC_000009.12:g.125949438G>A	TOPMed,gnomAD
rs1169822666	p.Ile318Val	missense variant	-	NC_000009.12:g.125960729A>G	gnomAD
rs1397344386	p.Gly319Ala	missense variant	-	NC_000009.12:g.125960733G>C	gnomAD
rs771847017	p.Val334Met	missense variant	-	NC_000009.12:g.125960777G>A	ExAC,TOPMed,gnomAD
rs928210585	p.His338Arg	missense variant	-	NC_000009.12:g.125960790A>G	gnomAD
rs1211338268	p.Ala339Thr	missense variant	-	NC_000009.12:g.125960792G>A	gnomAD
rs199830900	p.Ala341Thr	missense variant	-	NC_000009.12:g.125960798G>A	gnomAD
rs1345398723	p.Ala342Ser	missense variant	-	NC_000009.12:g.125960801G>T	TOPMed
rs746779624	p.Val344Leu	missense variant	-	NC_000009.12:g.125960807G>T	ExAC,TOPMed,gnomAD
rs746779624	p.Val344Met	missense variant	-	NC_000009.12:g.125960807G>A	ExAC,TOPMed,gnomAD
rs1195608553	p.Gln345Arg	missense variant	-	NC_000009.12:g.125960811A>G	gnomAD
rs769708708	p.Gln345Ter	stop gained	-	NC_000009.12:g.125960810C>T	ExAC,TOPMed,gnomAD
rs764276258	p.Asn347Thr	missense variant	-	NC_000009.12:g.125960817A>C	ExAC,gnomAD
rs763057322	p.Asn347Asp	missense variant	-	NC_000009.12:g.125960816A>G	ExAC,TOPMed,gnomAD
rs751799223	p.Gln348Glu	missense variant	-	NC_000009.12:g.125960819C>G	ExAC,TOPMed,gnomAD
rs1288753247	p.Thr349Ser	missense variant	-	NC_000009.12:g.125960822A>T	TOPMed,gnomAD
rs529247699	p.Asn350Ser	missense variant	-	NC_000009.12:g.125960826A>G	TOPMed,gnomAD
rs370710553	p.Ser351Leu	missense variant	-	NC_000009.12:g.125960829C>T	ESP,ExAC,TOPMed,gnomAD
rs1354505165	p.Pro352Ser	missense variant	-	NC_000009.12:g.125960831C>T	gnomAD
rs1052597538	p.Thr353Ile	missense variant	-	NC_000009.12:g.125960835C>T	gnomAD
rs1264012994	p.Gly358Ser	missense variant	-	NC_000009.12:g.125960849G>A	TOPMed
rs1176754546	p.Gly361Asp	missense variant	-	NC_000009.12:g.125962111G>A	gnomAD
rs766971839	p.Phe363Ser	missense variant	-	NC_000009.12:g.125962117T>C	ExAC,gnomAD
rs766971839	p.Phe363Cys	missense variant	-	NC_000009.12:g.125962117T>G	ExAC,gnomAD
rs754420582	p.Asn364Ser	missense variant	-	NC_000009.12:g.125962120A>G	ExAC,gnomAD
rs1421450777	p.Asn364Tyr	missense variant	-	NC_000009.12:g.125962119A>T	TOPMed,gnomAD
rs1394890851	p.Leu365Val	missense variant	-	NC_000009.12:g.125962122C>G	gnomAD
rs757944367	p.Pro366Ser	missense variant	-	NC_000009.12:g.125962125C>T	ExAC,TOPMed,gnomAD
rs1260669584	p.Asp370Val	missense variant	-	NC_000009.12:g.125962138A>T	gnomAD
rs751118814	p.Met373Leu	missense variant	-	NC_000009.12:g.125962146A>T	ExAC,gnomAD
rs1461170266	p.Met375Ile	missense variant	-	NC_000009.12:g.125962154G>A	gnomAD
rs756924554	p.Gln376Arg	missense variant	-	NC_000009.12:g.125962156A>G	ExAC,gnomAD
rs567150557	p.Asn379Asp	missense variant	-	NC_000009.12:g.125962164A>G	1000Genomes,ExAC,gnomAD
rs1226151932	p.Gly380Arg	missense variant	-	NC_000009.12:g.125962167G>A	TOPMed
rs1355153163	p.Asp381His	missense variant	-	NC_000009.12:g.125962170G>C	TOPMed
rs934525961	p.Gln384Arg	missense variant	-	NC_000009.12:g.125962180A>G	TOPMed,gnomAD
rs536129292	p.Gly385Arg	missense variant	-	NC_000009.12:g.125962182G>C	1000Genomes,ExAC,gnomAD
rs1236289034	p.Val392Met	missense variant	-	NC_000009.12:g.125962203G>A	gnomAD
rs1477938887	p.Asp397Val	missense variant	-	NC_000009.12:g.125963016A>T	gnomAD
rs1414988839	p.Leu399Phe	missense variant	-	NC_000009.12:g.125963021C>T	gnomAD
rs778017986	p.Arg400Cys	missense variant	-	NC_000009.12:g.125963024C>T	ExAC,TOPMed,gnomAD
rs747241535	p.Arg400His	missense variant	-	NC_000009.12:g.125963025G>A	ExAC,TOPMed,gnomAD
rs550677932	p.His401Gln	missense variant	-	NC_000009.12:g.125963029T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1418270613	p.Val402Ala	missense variant	-	NC_000009.12:g.125963031T>C	TOPMed
rs1230357042	p.Ile403Val	missense variant	-	NC_000009.12:g.125963033A>G	gnomAD
rs148844992	p.Ile403Met	missense variant	-	NC_000009.12:g.125963035C>G	ESP,ExAC
rs1428320651	p.Asn404Ser	missense variant	-	NC_000009.12:g.125963037A>G	gnomAD
rs760049554	p.Gln405Ter	stop gained	-	NC_000009.12:g.125963039C>T	ExAC,gnomAD
rs143568685	p.Thr406Met	missense variant	-	NC_000009.12:g.125963043C>T	ESP,ExAC,TOPMed,gnomAD
rs1292801224	p.Gly408Asp	missense variant	-	NC_000009.12:g.125963049G>A	gnomAD
rs750032236	p.Tyr409His	missense variant	-	NC_000009.12:g.125963051T>C	ExAC,gnomAD
rs376665042	p.Ser410Gly	missense variant	-	NC_000009.12:g.125963054A>G	ESP,TOPMed
rs1294243112	p.Asn416Ser	missense variant	-	NC_000009.12:g.125963073A>G	TOPMed
rs144885113	p.Asn416Asp	missense variant	-	NC_000009.12:g.125963072A>G	ESP,ExAC,TOPMed,gnomAD
rs138731813	p.Leu418Pro	missense variant	-	NC_000009.12:g.125963079T>C	ESP,ExAC,TOPMed,gnomAD
rs138731813	p.Leu418Arg	missense variant	-	NC_000009.12:g.125963079T>G	ESP,ExAC,TOPMed,gnomAD
rs1475865760	p.Ser420Gly	missense variant	-	NC_000009.12:g.125963084A>G	TOPMed,gnomAD
rs752609937	p.Ser420Asn	missense variant	-	NC_000009.12:g.125963085G>A	ExAC,gnomAD
rs114191763	p.Pro421Ser	missense variant	-	NC_000009.12:g.125963087C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1193479620	p.His422Arg	missense variant	-	NC_000009.12:g.125963091A>G	gnomAD
rs781521718	p.Asn427Ile	missense variant	-	NC_000009.12:g.125965835A>T	ExAC,gnomAD
rs781521718	p.Asn427Ser	missense variant	-	NC_000009.12:g.125965835A>G	ExAC,gnomAD
rs142803989	p.Gly428Ala	missense variant	-	NC_000009.12:g.125965838G>C	ESP,ExAC,TOPMed
rs746089717	p.Gly428Arg	missense variant	-	NC_000009.12:g.125965837G>A	ExAC,gnomAD
rs542398925	p.Gly429Ser	missense variant	-	NC_000009.12:g.125965840G>A	1000Genomes,ExAC,gnomAD
rs749727832	p.Asp432Asn	missense variant	-	NC_000009.12:g.125965849G>A	ExAC,TOPMed,gnomAD
rs774888450	p.Ala433Thr	missense variant	-	NC_000009.12:g.125965852G>A	ExAC,TOPMed,gnomAD
rs1005332245	p.Ala433Glu	missense variant	-	NC_000009.12:g.125965853C>A	TOPMed,gnomAD
rs1479140109	p.Thr435Ala	missense variant	-	NC_000009.12:g.125965858A>G	gnomAD
rs746473969	p.Pro436Thr	missense variant	-	NC_000009.12:g.125965861C>A	ExAC,gnomAD
rs1055844041	p.Ser437Phe	missense variant	-	NC_000009.12:g.125965865C>T	TOPMed,gnomAD
rs1454972424	p.Ser438Ala	missense variant	-	NC_000009.12:g.125965867T>G	gnomAD
rs776200610	p.Pro442Ser	missense variant	-	NC_000009.12:g.125965879C>T	ExAC,TOPMed,gnomAD
rs1440777808	p.Pro442Leu	missense variant	-	NC_000009.12:g.125965880C>T	gnomAD
rs759131706	p.Ser448Asn	missense variant	-	NC_000009.12:g.125965898G>A	ExAC,TOPMed,gnomAD
rs759131706	p.Ser448Thr	missense variant	-	NC_000009.12:g.125965898G>C	ExAC,TOPMed,gnomAD
rs1376543834	p.Val449Leu	missense variant	-	NC_000009.12:g.125965900G>T	gnomAD
rs115431152	p.His450Arg	missense variant	-	NC_000009.12:g.125965904A>G	1000Genomes,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0023267	Fibroid Tumor	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027070	Myoepithelioma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0039685	Tetralogy of Fallot	disease	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0202236	Triglycerides measurement	phenotype	GWASDB
C0280141	Acute Undifferentiated Leukemia	disease	BEFREE
C0334583	Pilocytic Astrocytoma	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1332977	Childhood Leukemia	disease	BEFREE
C1378511	Undifferentiated leukemia	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C3839868	Cytogenetically normal acute myeloid leukemia	disease	BEFREE
C3888194	MIXED LINEAGE LEUKEMIA	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PBX3 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PBX3 mRNA	28628672
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of PBX3 mRNA	19933214
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 decreased expression of PBX3 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of PBX3 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of PBX3 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PBX3 gene	27153756
D016607	Aflatoxin M1	Aflatoxin M1 results in decreased expression of PBX3 mRNA	30928695
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of PBX3 mRNA	29523930
D001379	Azathioprine	Azathioprine results in decreased expression of PBX3 mRNA	22623647
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PBX3 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PBX3 mRNA	21839799
C044887	beta-methylcholine	beta-methylcholine affects the expression of PBX3 mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PBX3 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of PBX3 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of PBX3 gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PBX3 mRNA	28628672
D000069286	Bortezomib	Bortezomib results in decreased expression of PBX3 mRNA	20977926
C018475	butyraldehyde	butyraldehyde results in decreased expression of PBX3 mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of PBX3 mRNA	25979313
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PBX3 gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of PBX3 mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PBX3 mRNA	24386269
D003042	Cocaine	Cocaine results in increased expression of PBX3 mRNA	18355967
D003042	Cocaine	FOS protein mutant form inhibits the reaction [Cocaine results in increased expression of PBX3 mRNA]	18355967
D016572	Cyclosporine	Cyclosporine affects the expression of PBX3 mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in decreased expression of PBX3 mRNA	20106945
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PBX3 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PBX3 mRNA	28628672
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PBX3 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PBX3 mRNA	21266533
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 decreased expression of PBX3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PBX3 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of PBX3 mRNA	29391264
D004958	Estradiol	Estradiol results in decreased expression of PBX3 mRNA	21185374
D000431	Ethanol	Ethanol affects the expression of PBX3 mRNA	30319688
D000431	Ethanol	Ethanol affects the splicing of PBX3 mRNA	30319688
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of PBX3 mRNA	28189721
D017313	Fenretinide	Fenretinide results in increased expression of PBX3 mRNA	28973697
D005472	Fluorouracil	PBX3 protein affects the susceptibility to Fluorouracil	16217747
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PBX3 gene	20938992
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PBX3 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PBX3 mRNA	28628672
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of PBX3 mRNA	27392435
D007649	Ketamine	Ketamine results in decreased expression of PBX3 mRNA	20080153
D019344	Lactic Acid	Lactic Acid results in increased expression of PBX3 mRNA	30851411
C008261	lead acetate	lead acetate results in decreased expression of PBX3 mRNA	22613225
C533894	LG 100815	LG 100815 results in decreased expression of PBX3 mRNA	16951191
D008701	Methapyrilene	Methapyrilene results in increased expression of PBX3 mRNA	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PBX3 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PBX3 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PBX3 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PBX3 mRNA	25620056
C062198	octa-2,4,6-trienoic acid	octa-2,4,6-trienoic acid results in decreased expression of PBX3 mRNA	16951191
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PBX3 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of PBX3 mRNA	25729387
D010634	Phenobarbital	Phenobarbital results in decreased expression of PBX3 mRNA	23091169
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PBX3 mRNA	19710929
D011794	Quercetin	Quercetin results in decreased expression of PBX3 mRNA	21632981
C017947	sodium arsenite	sodium arsenite results in decreased expression of PBX3 mRNA	22714537
D000077210	Sunitinib	Sunitinib results in decreased expression of PBX3 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PBX3 mRNA	31299295
D013629	Tamoxifen	Tamoxifen results in increased expression of PBX3 mRNA	25123088
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of PBX3 mRNA	15336504
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PBX3 mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of PBX3 mRNA	25975270
D019284	Thapsigargin	Thapsigargin results in decreased expression of PBX3 mRNA	29453283
D014050	Toluene	Toluene results in increased expression of PBX3 mRNA	22166486
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PBX3 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of PBX3 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of PBX3 mRNA	23724009
C011559	tributyltin	tributyltin results in increased expression of PBX3 mRNA	29505797
C012589	trichostatin A	trichostatin A results in decreased expression of PBX3 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of PBX3 mRNA	30510588
D014501	Uranium	Uranium affects the expression of PBX3 mRNA	15672453
C005460	uranyl acetate	uranyl acetate affects the expression of PBX3 mRNA	15672453
D014520	Urethane	Urethane results in increased expression of PBX3 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 decreased expression of PBX3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PBX3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PBX3 mRNA	26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PBX3 mRNA	23179753
D014635	Valproic Acid	Valproic Acid affects the expression of PBX3 mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of PBX3 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0175	Coiled coil
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR001356	Homeobox_dom
IPR008422	Homeobox_KN_domain
IPR005542	PBX

PROSITE

PROSITE ID	PROSITE Term
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF05920	Homeobox_KN
PF03792	PBC