CleftGeneDB-Search

Tag	Content
Uniprot ID	E5RH04
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000430041
Ensembl nucleotide ID	ENSG00000164920
Gene name	Protein odd-skipped-related 2
Gene symbol	OSR2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MGSKALPAPI PLHPSLQLTN YSFLQAVNTF PATVDHLQGL YGLSAVQTMH MNHWTLGYPN 60 VHEITRSTIT EMAAAQGLVD ARFPFPALPF TTHLFHPKQG AIAHVLPALH KDRPRFDFAN 120 LAVAATQEDP PKMGDLSKLS PGLGSPISGL SKLTPDRKPS RGRLPSKTKK EFICKFCGRH 180 FTKSYNLLIH ERTHTDERPY TCDICHKAFR RQDHLRDHRY IHSKEKPFKC QECGKGFCQS 240 RTLAVHKTLH MQVSLFSCLK TVAGSCYHYC FAKGVQWQTL SLKRLYLD 288

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	OSR2	508692	Q3T135			Bos taurus	Prediction	More>>
1:1 ortholog	OSR2	481980	E2QTV1			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	OSR2	102177997	A0A452F9L8			Capra hircus	Prediction	More>>
1:1 ortholog	OSR2		E5RH04			Homo sapiens	Prediction	More>>
1:1 ortholog	Osr2	107587	Q91ZD1	CPO	E12.5, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	OSR2	464306	H2QWH9			Pan troglodytes	Prediction	More>>
1:1 ortholog	OSR2	100155180	F1S0N7			Sus scrofa	Prediction	More>>
1:1 ortholog	Osr2	315039	Q6AY34			Rattus norvegicus	Prediction	More>>
1:1 ortholog	osr2		F1R0J1			Danio rerio	Prediction	More>>

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs775292637	p.Ala5Ser	missense variant	-	NC_000008.11:g.98948965G>T	ExAC,TOPMed,gnomAD
rs775292637	p.Ala5Thr	missense variant	-	NC_000008.11:g.98948965G>A	ExAC,TOPMed,gnomAD
rs1243561243	p.Ala5Asp	missense variant	-	NC_000008.11:g.98948966C>A	gnomAD
rs760460092	p.Ala8Glu	missense variant	-	NC_000008.11:g.98948975C>A	ExAC
rs1284390401	p.Pro9Ser	missense variant	-	NC_000008.11:g.98948977C>T	TOPMed
rs1305205765	p.Leu12Arg	missense variant	-	NC_000008.11:g.98948987T>G	TOPMed
rs753520223	p.His13Gln	missense variant	-	NC_000008.11:g.98948991C>A	ExAC,gnomAD
rs764701063	p.Pro14Arg	missense variant	-	NC_000008.11:g.98948993C>G	ExAC,gnomAD
rs756940497	p.Pro14Ala	missense variant	-	NC_000008.11:g.98948992C>G	ExAC,gnomAD
rs764701063	p.Pro14Gln	missense variant	-	NC_000008.11:g.98948993C>A	ExAC,gnomAD
rs764701063	p.Pro14Leu	missense variant	-	NC_000008.11:g.98948993C>T	ExAC,gnomAD
rs1411952759	p.Ser15Leu	missense variant	-	NC_000008.11:g.98948996C>T	TOPMed,gnomAD
rs1432874503	p.Gln17Pro	missense variant	-	NC_000008.11:g.98949002A>C	TOPMed
rs753161883	p.Asn20Asp	missense variant	-	NC_000008.11:g.98949010A>G	ExAC,gnomAD
rs1435133504	p.Asn20Ser	missense variant	-	NC_000008.11:g.98949011A>G	TOPMed
rs756489836	p.Tyr21His	missense variant	-	NC_000008.11:g.98949013T>C	ExAC,gnomAD
rs778066542	p.Tyr21Phe	missense variant	-	NC_000008.11:g.98949014A>T	ExAC,TOPMed,gnomAD
rs1299697317	p.Val27Met	missense variant	-	NC_000008.11:g.98949031G>A	gnomAD
rs1395100653	p.Phe30Leu	missense variant	-	NC_000008.11:g.98949042C>G	TOPMed,gnomAD
rs771329866	p.Phe30Cys	missense variant	-	NC_000008.11:g.98949041T>G	ExAC,gnomAD
rs1336392483	p.Ala32Thr	missense variant	-	NC_000008.11:g.98949046G>A	gnomAD
rs1187164935	p.Thr33Lys	missense variant	-	NC_000008.11:g.98949050C>A	TOPMed
rs1476699611	p.Val34Leu	missense variant	-	NC_000008.11:g.98949052G>T	TOPMed
rs1261695769	p.His36Gln	missense variant	-	NC_000008.11:g.98949060C>G	TOPMed
rs1216238950	p.Leu37Val	missense variant	-	NC_000008.11:g.98949061C>G	TOPMed,gnomAD
rs369633987	p.Tyr41His	missense variant	-	NC_000008.11:g.98949073T>C	ESP,ExAC,gnomAD
rs986764105	p.Gly42Ser	missense variant	-	NC_000008.11:g.98949076G>A	gnomAD
rs775484346	p.Ser44Asn	missense variant	-	NC_000008.11:g.98949083G>A	ExAC,TOPMed,gnomAD
rs775484346	p.Ser44Ile	missense variant	-	NC_000008.11:g.98949083G>T	ExAC,TOPMed,gnomAD
rs1259873860	p.Val46Glu	missense variant	-	NC_000008.11:g.98949089T>A	gnomAD
rs1259873860	p.Val46Ala	missense variant	-	NC_000008.11:g.98949089T>C	gnomAD
rs1476917342	p.His50Asn	missense variant	-	NC_000008.11:g.98949100C>A	TOPMed,gnomAD
rs1424370627	p.Met51Ile	missense variant	-	NC_000008.11:g.98949105G>T	gnomAD
rs892278064	p.Asn52Lys	missense variant	-	NC_000008.11:g.98949108C>A	TOPMed
rs776337630	p.His53Arg	missense variant	-	NC_000008.11:g.98949110A>G	ExAC,gnomAD
rs1172373635	p.Trp54Arg	missense variant	-	NC_000008.11:g.98949112T>C	gnomAD
rs761616202	p.Thr55Lys	missense variant	-	NC_000008.11:g.98949116C>A	ExAC,gnomAD
rs1313173298	p.Gly57Ala	missense variant	-	NC_000008.11:g.98949122G>C	TOPMed,gnomAD
rs1313173298	p.Gly57Glu	missense variant	-	NC_000008.11:g.98949122G>A	TOPMed,gnomAD
rs750082371	p.Pro59Ala	missense variant	-	NC_000008.11:g.98949127C>G	ExAC,gnomAD
rs372295284	p.Asn60Ser	missense variant	-	NC_000008.11:g.98949131A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs528132309	p.Glu63Lys	missense variant	-	NC_000008.11:g.98949139G>A	1000Genomes,ExAC,gnomAD
rs756619415	p.Glu63Asp	missense variant	-	NC_000008.11:g.98949141G>C	ExAC,TOPMed,gnomAD
rs1312049742	p.Arg66Ser	missense variant	-	NC_000008.11:g.98949148C>A	TOPMed,gnomAD
rs1312049742	p.Arg66Cys	missense variant	-	NC_000008.11:g.98949148C>T	TOPMed,gnomAD
rs961492568	p.Arg66His	missense variant	-	NC_000008.11:g.98949149G>A	gnomAD
rs778179403	p.Ile69Asn	missense variant	-	NC_000008.11:g.98949158T>A	ExAC,gnomAD
rs1475819080	p.Glu71Lys	missense variant	-	NC_000008.11:g.98949163G>A	TOPMed
rs772187871	p.Ala73Val	missense variant	-	NC_000008.11:g.98949170C>T	ExAC,TOPMed,gnomAD
rs200350755	p.Ala73Thr	missense variant	-	NC_000008.11:g.98949169G>A	ExAC,TOPMed,gnomAD
rs780034291	p.Ala74Val	missense variant	-	NC_000008.11:g.98949173C>T	ExAC,gnomAD
rs768426368	p.Ala75Val	missense variant	-	NC_000008.11:g.98949176C>T	ExAC,TOPMed,gnomAD
rs768426368	p.Ala75Gly	missense variant	-	NC_000008.11:g.98949176C>G	ExAC,TOPMed,gnomAD
rs746939319	p.Ala75Pro	missense variant	-	NC_000008.11:g.98949175G>C	ExAC
rs1173999770	p.Gln76Arg	missense variant	-	NC_000008.11:g.98949179A>G	gnomAD
rs1432430594	p.Gln76Glu	missense variant	-	NC_000008.11:g.98949178C>G	gnomAD
rs547964746	p.Gln76His	missense variant	-	NC_000008.11:g.98949180G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs772842012	p.Gly77Ser	missense variant	-	NC_000008.11:g.98949181G>A	ExAC,gnomAD
rs1345279687	p.Leu78His	missense variant	-	NC_000008.11:g.98949185T>A	gnomAD
rs1273646198	p.Val79Ala	missense variant	-	NC_000008.11:g.98949188T>C	gnomAD
rs1273646198	p.Val79Gly	missense variant	-	NC_000008.11:g.98949188T>G	gnomAD
rs1247882502	p.Ala81Thr	missense variant	-	NC_000008.11:g.98949193G>A	TOPMed,gnomAD
rs751081954	p.Ala81Val	missense variant	-	NC_000008.11:g.98949194C>T	ExAC,gnomAD
rs764440992	p.Arg82His	missense variant	-	NC_000008.11:g.98949197G>A	ExAC,TOPMed,gnomAD
rs1351885456	p.Arg82Gly	missense variant	-	NC_000008.11:g.98949196C>G	gnomAD
rs377034097	p.Pro84Ala	missense variant	-	NC_000008.11:g.98949202C>G	ESP,ExAC,TOPMed,gnomAD
rs377034097	p.Pro84Ser	missense variant	-	NC_000008.11:g.98949202C>T	ESP,ExAC,TOPMed,gnomAD
rs201438766	p.Pro86Arg	missense variant	-	NC_000008.11:g.98949209C>G	ExAC,TOPMed,gnomAD
rs201438766	p.Pro86Leu	missense variant	-	NC_000008.11:g.98949209C>T	ExAC,TOPMed,gnomAD
rs61744135	p.Leu94Pro	missense variant	-	NC_000008.11:g.98949233T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755092691	p.Phe95Leu	missense variant	-	NC_000008.11:g.98949237C>G	ExAC,TOPMed,gnomAD
rs937683594	p.Pro97Ser	missense variant	-	NC_000008.11:g.98949241C>T	TOPMed,gnomAD
rs1321043428	p.Gly100Val	missense variant	-	NC_000008.11:g.98949251G>T	TOPMed,gnomAD
rs769577107	p.Ala101Val	missense variant	-	NC_000008.11:g.98949254C>T	ExAC,gnomAD
rs770443927	p.His104Asp	missense variant	-	NC_000008.11:g.98949262C>G	ExAC,gnomAD
rs372847306	p.Val105Ile	missense variant	-	NC_000008.11:g.98949265G>A	ESP,ExAC,TOPMed,gnomAD
rs372847306	p.Val105Phe	missense variant	-	NC_000008.11:g.98949265G>T	ESP,ExAC,TOPMed,gnomAD
rs372847306	p.Val105Leu	missense variant	-	NC_000008.11:g.98949265G>C	ESP,ExAC,TOPMed,gnomAD
rs777273417	p.Ala108Val	missense variant	-	NC_000008.11:g.98949275C>T	ExAC,gnomAD
rs1289273506	p.Ala108Thr	missense variant	-	NC_000008.11:g.98949274G>A	gnomAD
rs762449769	p.Leu109Arg	missense variant	-	NC_000008.11:g.98949278T>G	ExAC,gnomAD
rs750763453	p.Arg113Gln	missense variant	-	NC_000008.11:g.98949290G>A	ExAC,TOPMed,gnomAD
rs1318465600	p.Asn120Ser	missense variant	-	NC_000008.11:g.98949311A>G	gnomAD
rs751822223	p.Thr126Lys	missense variant	-	NC_000008.11:g.98949329C>A	ExAC,TOPMed,gnomAD
rs751822223	p.Thr126Met	missense variant	-	NC_000008.11:g.98949329C>T	ExAC,TOPMed,gnomAD
rs748047740	p.Glu128Gly	missense variant	-	NC_000008.11:g.98949335A>G	ExAC,TOPMed,gnomAD
rs904037691	p.Glu128Gln	missense variant	-	NC_000008.11:g.98949334G>C	TOPMed,gnomAD
rs202146539	p.Glu128Asp	missense variant	-	NC_000008.11:g.98949336G>C	1000Genomes,ExAC,gnomAD
rs904037691	p.Glu128Lys	missense variant	-	NC_000008.11:g.98949334G>A	TOPMed,gnomAD
rs777711530	p.Pro130Leu	missense variant	-	NC_000008.11:g.98949341C>T	ExAC,TOPMed,gnomAD
rs1317194746	p.Pro130Ala	missense variant	-	NC_000008.11:g.98949340C>G	gnomAD
rs1457782197	p.Met133Thr	missense variant	-	NC_000008.11:g.98949350T>C	TOPMed
rs565937883	p.Leu136Val	missense variant	-	NC_000008.11:g.98949358C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1335632868	p.Ser140Asn	missense variant	-	NC_000008.11:g.98949371G>A	gnomAD
rs745600616	p.Pro141Ser	missense variant	-	NC_000008.11:g.98949373C>T	ExAC,gnomAD
rs771677275	p.Pro141Leu	missense variant	-	NC_000008.11:g.98949374C>T	ExAC,TOPMed,gnomAD
rs1319113610	p.Ser148Thr	missense variant	-	NC_000008.11:g.98949394T>A	gnomAD
rs1439268470	p.Leu150Ile	missense variant	-	NC_000008.11:g.98949400C>A	gnomAD
rs760280517	p.Ser151Gly	missense variant	-	NC_000008.11:g.98949403A>G	ExAC,gnomAD
rs1207156340	p.Ser151Arg	missense variant	-	NC_000008.11:g.98949405T>G	gnomAD
rs535058558	p.Leu153Val	missense variant	-	NC_000008.11:g.98949409T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs373472912	p.Pro155Gln	missense variant	-	NC_000008.11:g.98949416C>A	ESP,ExAC,TOPMed,gnomAD
rs773771031	p.Pro155Ala	missense variant	-	NC_000008.11:g.98949415C>G	ExAC,TOPMed,gnomAD
rs373472912	p.Pro155Leu	missense variant	-	NC_000008.11:g.98949416C>T	ESP,ExAC,TOPMed,gnomAD
rs200456742	p.Pro159Ser	missense variant	-	NC_000008.11:g.98949427C>T	ESP,ExAC,TOPMed,gnomAD
rs751730409	p.Arg161Gln	missense variant	-	NC_000008.11:g.98949434G>A	ExAC,gnomAD
rs767562127	p.Gly162Val	missense variant	-	NC_000008.11:g.98949437G>T	ExAC,gnomAD
rs767562127	p.Gly162Glu	missense variant	-	NC_000008.11:g.98949437G>A	ExAC,gnomAD
rs769169543	p.Thr168Met	missense variant	-	NC_000008.11:g.98949455C>T	ExAC,TOPMed,gnomAD
rs769169543	p.Thr168Arg	missense variant	-	NC_000008.11:g.98949455C>G	ExAC,TOPMed,gnomAD
rs1251808840	p.Ile173Thr	missense variant	-	NC_000008.11:g.98949470T>C	gnomAD
rs1420666642	p.His180Asn	missense variant	-	NC_000008.11:g.98949490C>A	gnomAD
rs1299274049	p.His180Arg	missense variant	-	NC_000008.11:g.98949491A>G	TOPMed
rs1477171778	p.Glu191Gln	missense variant	-	NC_000008.11:g.98949523G>C	gnomAD
rs574548072	p.Asp196Asn	missense variant	-	NC_000008.11:g.98949538G>A	1000Genomes,ExAC,gnomAD
rs773582439	p.Thr201Pro	missense variant	-	NC_000008.11:g.98949553A>C	ExAC,TOPMed,gnomAD
rs773582439	p.Thr201Ala	missense variant	-	NC_000008.11:g.98949553A>G	ExAC,TOPMed,gnomAD
rs763588260	p.Thr201Met	missense variant	-	NC_000008.11:g.98949554C>T	ExAC,TOPMed,gnomAD
rs1382832096	p.Ile204Thr	missense variant	-	NC_000008.11:g.98949563T>C	gnomAD
rs376720519	p.Arg219Lys	missense variant	-	NC_000008.11:g.98949608G>A	ESP,ExAC,TOPMed,gnomAD
rs983224651	p.Tyr220His	missense variant	-	NC_000008.11:g.98950657T>C	TOPMed
rs1306696802	p.Ile221Thr	missense variant	-	NC_000008.11:g.98950661T>C	TOPMed,gnomAD
rs1239268483	p.Lys224Arg	missense variant	-	NC_000008.11:g.98950670A>G	gnomAD
rs1168388499	p.Glu225Gln	missense variant	-	NC_000008.11:g.98950672G>C	TOPMed
rs576616277	p.Lys226Thr	missense variant	-	NC_000008.11:g.98950676A>C	1000Genomes
rs746165433	p.Phe228Tyr	missense variant	-	NC_000008.11:g.98950682T>A	ExAC,TOPMed,gnomAD
rs772441797	p.Gln231Arg	missense variant	-	NC_000008.11:g.98950691A>G	ExAC,gnomAD
rs1470144624	p.Phe237Leu	missense variant	-	NC_000008.11:g.98950710T>A	gnomAD
rs760925631	p.Leu249Ser	missense variant	-	NC_000008.11:g.98950745T>C	ExAC,gnomAD
rs764058294	p.Met251Lys	missense variant	-	NC_000008.11:g.98950751T>A	ExAC,TOPMed,gnomAD
rs764058294	p.Met251Thr	missense variant	-	NC_000008.11:g.98950751T>C	ExAC,TOPMed,gnomAD
rs776723636	p.Gln252Leu	missense variant	-	NC_000008.11:g.98950754A>T	ExAC,gnomAD
rs907607707	p.Leu255Trp	missense variant	-	NC_000008.11:g.98950763T>G	TOPMed
rs1288082159	p.Phe256Leu	missense variant	-	NC_000008.11:g.98950765T>C	gnomAD
rs765151195	p.Phe256Leu	missense variant	-	NC_000008.11:g.98950767T>G	ExAC,TOPMed,gnomAD
rs750395595	p.Ser257Pro	missense variant	-	NC_000008.11:g.98950768T>C	ExAC,TOPMed,gnomAD
rs758251205	p.Cys258Ser	missense variant	-	NC_000008.11:g.98950772G>C	ExAC,gnomAD
rs766346238	p.Leu259Val	missense variant	-	NC_000008.11:g.98950774T>G	ExAC,gnomAD
rs751229756	p.Leu259Phe	missense variant	-	NC_000008.11:g.98950776A>T	ExAC,TOPMed,gnomAD
rs1040445552	p.Leu259Ser	missense variant	-	NC_000008.11:g.98950775T>C	TOPMed
rs754731120	p.Thr261Ala	missense variant	-	NC_000008.11:g.98950780A>G	ExAC,TOPMed,gnomAD
rs754731120	p.Thr261Pro	missense variant	-	NC_000008.11:g.98950780A>C	ExAC,TOPMed,gnomAD
rs921588421	p.Val262Leu	missense variant	-	NC_000008.11:g.98950783G>C	TOPMed
rs539576209	p.Cys266Tyr	missense variant	-	NC_000008.11:g.98950796G>A	1000Genomes,gnomAD
rs1049953725	p.Cys270Arg	missense variant	-	NC_000008.11:g.98950807T>C	TOPMed
rs747655032	p.Val275Ile	missense variant	-	NC_000008.11:g.98950822G>A	ExAC,gnomAD
rs1274391791	p.TrpGln277Ter	stop gained	-	NC_000008.11:g.98950830_98950831del	gnomAD
rs1179243823	p.Ser281Tyr	missense variant	-	NC_000008.11:g.98950841C>A	gnomAD
rs1329230777	p.Leu282Pro	missense variant	-	NC_000008.11:g.98950844T>C	TOPMed
rs1474949782	p.Arg284Ser	missense variant	-	NC_000008.11:g.98950851G>C	TOPMed,gnomAD
rs1254320384	p.Arg284Gly	missense variant	-	NC_000008.11:g.98950849A>G	gnomAD
rs552894752	p.Leu285Phe	missense variant	-	NC_000008.11:g.98950852C>T	1000Genomes,ExAC,gnomAD
rs1420067989	p.Tyr286Phe	missense variant	-	NC_000008.11:g.98950856A>T	gnomAD
rs1391257132	p.Asp288Ala	missense variant	-	NC_000008.11:g.98950862A>C	TOPMed
rs1462970577	p.Asp288Asn	missense variant	-	NC_000008.11:g.98950861G>A	gnomAD

Keyword ID	Keyword Term
KW-0479	Metal-binding
KW-1267	Proteomics identification
KW-1185	Reference proteome
KW-0862	Zinc
KW-0863	Zinc-finger

InterPro ID	InterPro Term
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Gene: OSR2

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction