CleftGeneDB-Search

Gene: OVCA2

Basic information

Tag	Content
Uniprot ID	Q8WZ82; Q86XN3; Q8IW87; Q9UCX9;
Entrez ID	124641
Genbank protein ID	AAH40696.1; AAL35713.1; AAH41170.1; AAN04659.1; AAC62628.1;
Genbank nucleotide ID	NM_080822.2
Ensembl protein ID	ENSP00000461388
Ensembl nucleotide ID	ENSG00000262664
Gene name	Esterase OVCA2
Gene symbol	OVCA2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MAAQRPLRVL CLAGFRQSER GFREKTGALR KALRGRAELV CLSGPHPVPD PPGPEGARSD 60 FGSCPPEEQP RGWWFSEQEA DVFSALEEPA VCRGLEESLG MVAQALNRLG PFDGLLGFSQ 120 GAALAALVCA LGQAGDPRFP LPRFILLVSG FCPRGIGFKE SILQRPLSLP SLHVFGDTDK 180 VIPSQESVQL ASQFPGAITL THSGGHFIPA AAPQRQAYLK FLDQFAE 227

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 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

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	OVCA2	513845	Q3SZ07		Bos taurus	Prediction	More>>
1:1 ortholog	OVCA2		E2QZ82		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	OVCA2		A0A452G6K8		Capra hircus	Prediction	More>>
1:1 ortholog	OVCA2		F6QJ19		Equus caballus	Prediction	More>>
1:1 ortholog	OVCA2	124641	Q8WZ82		Homo sapiens	Prediction	More>>
1:1 ortholog	Ovca2	246257	Q9D7E3	CPO	Mus musculus	Publication	More>>
1:1 ortholog			A0A4X1U7E4		Sus scrofa	Prediction	More>>
1:1 ortholog	ovca2	553576	Q503Y4		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1231260494	p.Ala2Val	missense variant	-	NC_000017.11:g.2042052C>T	gnomAD
rs753169301	p.Ala3Val	missense variant	-	NC_000017.11:g.2042055C>T	ExAC,gnomAD
rs949635495	p.Gln4Arg	missense variant	-	NC_000017.11:g.2042058A>G	TOPMed,gnomAD
rs913645650	p.Gln4Glu	missense variant	-	NC_000017.11:g.2042057C>G	TOPMed,gnomAD
rs949635495	p.Gln4Leu	missense variant	-	NC_000017.11:g.2042058A>T	TOPMed,gnomAD
rs913645650	p.Gln4Ter	stop gained	-	NC_000017.11:g.2042057C>T	TOPMed,gnomAD
rs778062059	p.Arg5Pro	missense variant	-	NC_000017.11:g.2042061G>C	ExAC,gnomAD
rs926822381	p.Pro6His	missense variant	-	NC_000017.11:g.2042064C>A	TOPMed,gnomAD
rs926822381	p.Pro6Leu	missense variant	-	NC_000017.11:g.2042064C>T	TOPMed,gnomAD
rs926822381	p.Pro6Arg	missense variant	-	NC_000017.11:g.2042064C>G	TOPMed,gnomAD
rs532074812	p.Leu7Val	missense variant	-	NC_000017.11:g.2042066C>G	ExAC,TOPMed,gnomAD
rs1162227909	p.Arg8Gln	missense variant	-	NC_000017.11:g.2042070G>A	TOPMed,gnomAD
rs748079428	p.Val9Ala	missense variant	-	NC_000017.11:g.2042073T>C	ExAC,gnomAD
rs776753588	p.Val9Phe	missense variant	-	NC_000017.11:g.2042072G>T	ExAC,TOPMed,gnomAD
rs1343932351	p.Leu10Pro	missense variant	-	NC_000017.11:g.2042076T>C	TOPMed,gnomAD
rs769738680	p.Leu10Met	missense variant	-	NC_000017.11:g.2042075C>A	ExAC,TOPMed,gnomAD
rs773105305	p.Cys11Ser	missense variant	-	NC_000017.11:g.2042079G>C	ExAC,TOPMed,gnomAD
rs759602658	p.Ala13Glu	missense variant	-	NC_000017.11:g.2042085C>A	ExAC
rs1315095519	p.Gly14Ala	missense variant	-	NC_000017.11:g.2042088G>C	gnomAD
rs373507810	p.Arg16Gln	missense variant	-	NC_000017.11:g.2042094G>A	ESP,TOPMed,gnomAD
rs753224058	p.Arg16Trp	missense variant	-	NC_000017.11:g.2042093C>T	ExAC,TOPMed,gnomAD
rs1326849220	p.Ser18Arg	missense variant	-	NC_000017.11:g.2042101C>G	gnomAD
rs1326849220	p.Ser18Arg	missense variant	-	NC_000017.11:g.2042101C>A	gnomAD
rs1266429963	p.Ser18Asn	missense variant	-	NC_000017.11:g.2042100G>A	TOPMed
rs1210475898	p.Glu19Lys	missense variant	-	NC_000017.11:g.2042102G>A	TOPMed,gnomAD
rs1210475898	p.Glu19Ter	stop gained	-	NC_000017.11:g.2042102G>T	TOPMed,gnomAD
rs756573006	p.Arg20Trp	missense variant	-	NC_000017.11:g.2042105C>T	ExAC,gnomAD
rs764443632	p.Gly21Asp	missense variant	-	NC_000017.11:g.2042109G>A	ExAC,gnomAD
rs1482633876	p.Gly21Ser	missense variant	-	NC_000017.11:g.2042108G>A	gnomAD
rs764443632	p.Gly21Val	missense variant	-	NC_000017.11:g.2042109G>T	ExAC,gnomAD
rs1008908830	p.Phe22Ser	missense variant	-	NC_000017.11:g.2042112T>C	TOPMed,gnomAD
rs754139123	p.Phe22Leu	missense variant	-	NC_000017.11:g.2042113C>G	ExAC,TOPMed,gnomAD
rs1181039559	p.Arg23Cys	missense variant	-	NC_000017.11:g.2042114C>T	TOPMed,gnomAD
rs1181039559	p.Arg23Ser	missense variant	-	NC_000017.11:g.2042114C>A	TOPMed,gnomAD
rs777971917	p.Thr26Ile	missense variant	-	NC_000017.11:g.2042124C>T	TOPMed,gnomAD
rs777971917	p.Thr26Ser	missense variant	-	NC_000017.11:g.2042124C>G	TOPMed,gnomAD
rs1038180106	p.Gly27Arg	missense variant	-	NC_000017.11:g.2042126G>C	TOPMed,gnomAD
rs545120649	p.Ala28Thr	missense variant	-	NC_000017.11:g.2042129G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs545120649	p.Ala28Pro	missense variant	-	NC_000017.11:g.2042129G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1348368357	p.Ala28Val	missense variant	-	NC_000017.11:g.2042130C>T	gnomAD
rs748130733	p.Leu29Pro	missense variant	-	NC_000017.11:g.2042133T>C	ExAC,gnomAD
rs769788020	p.Lys31Asn	missense variant	-	NC_000017.11:g.2042140G>T	ExAC,gnomAD
rs564933862	p.Leu33Val	missense variant	-	NC_000017.11:g.2042144C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1483308444	p.Arg34Trp	missense variant	-	NC_000017.11:g.2042147C>T	gnomAD
rs376438806	p.Arg34Leu	missense variant	-	NC_000017.11:g.2042148G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371008735	p.Gly35Cys	missense variant	-	NC_000017.11:g.2042150G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183439974	p.Arg36Cys	missense variant	-	NC_000017.11:g.2042153C>T	gnomAD
rs1431890879	p.Ala37Thr	missense variant	-	NC_000017.11:g.2042156G>A	gnomAD
rs754335335	p.Glu38Lys	missense variant	-	NC_000017.11:g.2042159G>A	ExAC,gnomAD
rs765615461	p.Val40Met	missense variant	-	NC_000017.11:g.2042165G>A	ExAC,TOPMed,gnomAD
rs1410670433	p.Cys41Tyr	missense variant	-	NC_000017.11:g.2042169G>A	gnomAD
rs1217365403	p.Leu42Arg	missense variant	-	NC_000017.11:g.2042172T>G	gnomAD
rs751196587	p.Leu42Phe	missense variant	-	NC_000017.11:g.2042171C>T	ExAC,gnomAD
rs1455720121	p.Ser43Asn	missense variant	-	NC_000017.11:g.2042175G>A	TOPMed
rs529933360	p.Gly44Ala	missense variant	-	NC_000017.11:g.2042178G>C	1000Genomes,TOPMed
rs1463550931	p.Pro45Leu	missense variant	-	NC_000017.11:g.2042181C>T	TOPMed
rs1347947103	p.Pro45Ser	missense variant	-	NC_000017.11:g.2042180C>T	gnomAD
rs754623230	p.Val48Phe	missense variant	-	NC_000017.11:g.2042189G>T	ExAC,TOPMed,gnomAD
rs754623230	p.Val48Leu	missense variant	-	NC_000017.11:g.2042189G>C	ExAC,TOPMed,gnomAD
rs754623230	p.Val48Ile	missense variant	-	NC_000017.11:g.2042189G>A	ExAC,TOPMed,gnomAD
rs1205450071	p.Asp50Asn	missense variant	-	NC_000017.11:g.2042195G>A	gnomAD
rs201458913	p.Asp50Ala	missense variant	-	NC_000017.11:g.2042196A>C	TOPMed
rs201458913	p.Asp50Gly	missense variant	-	NC_000017.11:g.2042196A>G	TOPMed
rs199650013	p.Asp50Glu	missense variant	-	NC_000017.11:g.2042197C>A	TOPMed,gnomAD
rs199650013	p.Asp50Glu	missense variant	-	NC_000017.11:g.2042197C>G	TOPMed,gnomAD
rs780857765	p.Pro51Thr	missense variant	-	NC_000017.11:g.2042198C>A	ExAC,TOPMed,gnomAD
rs780857765	p.Pro51Ala	missense variant	-	NC_000017.11:g.2042198C>G	ExAC,TOPMed,gnomAD
rs752196726	p.Pro52Leu	missense variant	-	NC_000017.11:g.2042202C>T	ExAC,TOPMed,gnomAD
rs752196726	p.Pro52Arg	missense variant	-	NC_000017.11:g.2042202C>G	ExAC,TOPMed,gnomAD
rs749220856	p.Pro54Ala	missense variant	-	NC_000017.11:g.2042207C>G	ExAC,TOPMed,gnomAD
rs749220856	p.Pro54Ser	missense variant	-	NC_000017.11:g.2042207C>T	ExAC,TOPMed,gnomAD
rs749220856	p.Pro54Thr	missense variant	-	NC_000017.11:g.2042207C>A	ExAC,TOPMed,gnomAD
rs1392114921	p.Glu55Gly	missense variant	-	NC_000017.11:g.2042211A>G	gnomAD
rs1323176171	p.Gly56Ser	missense variant	-	NC_000017.11:g.2042213G>A	TOPMed,gnomAD
rs1349057784	p.Gly56Asp	missense variant	-	NC_000017.11:g.2042214G>A	TOPMed,gnomAD
rs1349057784	p.Gly56Val	missense variant	-	NC_000017.11:g.2042214G>T	TOPMed,gnomAD
rs1323176171	p.Gly56Arg	missense variant	-	NC_000017.11:g.2042213G>C	TOPMed,gnomAD
rs770652391	p.Ala57Gly	missense variant	-	NC_000017.11:g.2042217C>G	ExAC,TOPMed,gnomAD
rs770652391	p.Ala57Val	missense variant	-	NC_000017.11:g.2042217C>T	ExAC,TOPMed,gnomAD
rs979165634	p.Arg58Lys	missense variant	-	NC_000017.11:g.2042220G>A	TOPMed,gnomAD
rs979165634	p.Arg58Ile	missense variant	-	NC_000017.11:g.2042220G>T	TOPMed,gnomAD
rs890546253	p.Phe61Leu	missense variant	-	NC_000017.11:g.2042230C>A	TOPMed,gnomAD
rs926770062	p.Gly62Arg	missense variant	-	NC_000017.11:g.2042231G>A	TOPMed
rs780291111	p.Gly62Val	missense variant	-	NC_000017.11:g.2042605G>T	ExAC,gnomAD
rs780291111	p.Gly62Ala	missense variant	-	NC_000017.11:g.2042605G>C	ExAC,gnomAD
rs780291111	p.Gly62Glu	missense variant	-	NC_000017.11:g.2042605G>A	ExAC,gnomAD
rs926770062	p.Gly62Arg	missense variant	-	NC_000017.11:g.2042231G>C	TOPMed
rs974116528	p.Ser63Thr	missense variant	-	NC_000017.11:g.2042607T>A	TOPMed,gnomAD
rs113371792	p.Cys64Phe	missense variant	-	NC_000017.11:g.2042611G>T	ExAC,gnomAD
rs113371792	p.Cys64Tyr	missense variant	-	NC_000017.11:g.2042611G>A	ExAC,gnomAD
rs748610578	p.Cys64Arg	missense variant	-	NC_000017.11:g.2042610T>C	ExAC,gnomAD
rs763479379	p.Pro65Ser	missense variant	-	NC_000017.11:g.2042613C>T	ExAC,gnomAD
rs766820542	p.Pro65Leu	missense variant	-	NC_000017.11:g.2042614C>T	ExAC,TOPMed,gnomAD
rs1211946382	p.Pro66Leu	missense variant	-	NC_000017.11:g.2042617C>T	TOPMed
rs552122556	p.Glu68Gln	missense variant	-	NC_000017.11:g.2042622G>C	1000Genomes,ExAC,gnomAD
rs760362246	p.Pro70Ser	missense variant	-	NC_000017.11:g.2042628C>T	ExAC,gnomAD
rs763515350	p.Arg71Ter	stop gained	-	NC_000017.11:g.2042631C>T	ExAC,TOPMed,gnomAD
rs753330182	p.Gly72Ser	missense variant	-	NC_000017.11:g.2042634G>A	ExAC,gnomAD
rs765281802	p.Gly72Ala	missense variant	-	NC_000017.11:g.2042635G>C	ExAC,gnomAD
rs753330182	p.Gly72Arg	missense variant	-	NC_000017.11:g.2042634G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly72Cys	missense variant	-	NC_000017.11:g.2042634G>T	NCI-TCGA
rs779777575	p.Trp73Cys	missense variant	-	NC_000017.11:g.2042639G>T	ExAC,gnomAD
rs758236126	p.Trp73Ter	stop gained	-	NC_000017.11:g.2042638G>A	ExAC,gnomAD
rs779777575	p.Trp73Ter	stop gained	-	NC_000017.11:g.2042639G>A	ExAC,gnomAD
rs747266426	p.Trp74Ter	stop gained	-	NC_000017.11:g.2042641G>A	ExAC
NCI-TCGA novel	p.Glu77Val	missense variant	-	NC_000017.11:g.2042650A>T	NCI-TCGA
rs1350229810	p.Glu79Lys	missense variant	-	NC_000017.11:g.2042655G>A	gnomAD
rs1227006697	p.Ala80Val	missense variant	-	NC_000017.11:g.2042659C>T	TOPMed,gnomAD
rs1373652235	p.Asp81Asn	missense variant	-	NC_000017.11:g.2042661G>A	TOPMed
rs1351945745	p.Val82Ile	missense variant	-	NC_000017.11:g.2042664G>A	TOPMed,gnomAD
rs886225077	p.Ala85Ser	missense variant	-	NC_000017.11:g.2042673G>T	gnomAD
rs886225077	p.Ala85Thr	missense variant	-	NC_000017.11:g.2042673G>A	gnomAD
rs1453006736	p.Leu86Ser	missense variant	-	NC_000017.11:g.2042677T>C	TOPMed
rs748317353	p.Glu88Asp	missense variant	-	NC_000017.11:g.2042684G>C	ExAC,TOPMed,gnomAD
rs1016467231	p.Pro89Ala	missense variant	-	NC_000017.11:g.2042685C>G	gnomAD
rs1016467231	p.Pro89Ser	missense variant	-	NC_000017.11:g.2042685C>T	gnomAD
rs944824870	p.Ala90Thr	missense variant	-	NC_000017.11:g.2042688G>A	TOPMed,gnomAD
rs773810080	p.Arg93Lys	missense variant	-	NC_000017.11:g.2042698G>A	ExAC,TOPMed,gnomAD
rs749792381	p.Arg93Ser	missense variant	-	NC_000017.11:g.2042699G>C	ExAC,gnomAD
rs137977848	p.Gly94Asp	missense variant	-	NC_000017.11:g.2042701G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771450816	p.Gly94Arg	missense variant	-	NC_000017.11:g.2042700G>C	ExAC,gnomAD
rs142574497	p.Leu95Gln	missense variant	-	NC_000017.11:g.2042704T>A	ESP,ExAC,TOPMed,gnomAD
rs1336748971	p.Glu96Lys	missense variant	-	NC_000017.11:g.2042706G>A	gnomAD
rs1262829835	p.Met101Val	missense variant	-	NC_000017.11:g.2042721A>G	TOPMed
rs188768719	p.Val102Met	missense variant	-	NC_000017.11:g.2042724G>A	1000Genomes,ExAC,gnomAD
rs776139031	p.Ala103Val	missense variant	-	NC_000017.11:g.2042728C>T	ExAC,gnomAD
rs1274015533	p.Gln104Arg	missense variant	-	NC_000017.11:g.2042731A>G	gnomAD
rs1482161454	p.Leu106Met	missense variant	-	NC_000017.11:g.2042736C>A	TOPMed,gnomAD
rs199716020	p.Asn107His	missense variant	-	NC_000017.11:g.2042739A>C	1000Genomes,ExAC,gnomAD
rs1438221851	p.Asn107Lys	missense variant	-	NC_000017.11:g.2042741C>G	gnomAD
rs764627413	p.Arg108Thr	missense variant	-	NC_000017.11:g.2042743G>C	ExAC,gnomAD
rs750380507	p.Leu109Val	missense variant	-	NC_000017.11:g.2042745C>G	ExAC,TOPMed,gnomAD
rs1293438900	p.Leu109Pro	missense variant	-	NC_000017.11:g.2042746T>C	TOPMed,gnomAD
rs1323672558	p.Gly110Glu	missense variant	-	NC_000017.11:g.2042749G>A	TOPMed
rs758295276	p.Gly110Arg	missense variant	-	NC_000017.11:g.2042748G>C	ExAC,gnomAD
rs766169823	p.Pro111Leu	missense variant	-	NC_000017.11:g.2042752C>T	ExAC,gnomAD
rs751301699	p.Phe112Leu	missense variant	-	NC_000017.11:g.2042756T>A	ExAC,TOPMed,gnomAD
rs1243263031	p.Gly114Asp	missense variant	-	NC_000017.11:g.2042761G>A	gnomAD
rs144653729	p.Gly114Ser	missense variant	-	NC_000017.11:g.2042760G>A	ESP,ExAC,TOPMed,gnomAD
rs138550949	p.Leu115Phe	missense variant	-	NC_000017.11:g.2042763C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1207298762	p.Leu116Phe	missense variant	-	NC_000017.11:g.2042766C>T	TOPMed,gnomAD
rs534536718	p.Leu116Arg	missense variant	-	NC_000017.11:g.2042767T>G	1000Genomes,ExAC,gnomAD
rs1296903159	p.Gly117Ala	missense variant	-	NC_000017.11:g.2042770G>C	gnomAD
rs1395739093	p.Gly117Ser	missense variant	-	NC_000017.11:g.2042769G>A	TOPMed
rs1296903159	p.Gly117Asp	missense variant	-	NC_000017.11:g.2042770G>A	gnomAD
rs1340169751	p.Phe118Val	missense variant	-	NC_000017.11:g.2042772T>G	gnomAD
rs548112943	p.Gln120His	missense variant	-	NC_000017.11:g.2042780A>T	1000Genomes,TOPMed,gnomAD
rs936566545	p.Gln120Pro	missense variant	-	NC_000017.11:g.2042779A>C	TOPMed,gnomAD
rs1206252170	p.Gly121Arg	missense variant	-	NC_000017.11:g.2042781G>A	TOPMed
rs376903820	p.Ala123Val	missense variant	-	NC_000017.11:g.2042788C>T	ExAC,TOPMed,gnomAD
rs1188847294	p.Leu124Pro	missense variant	-	NC_000017.11:g.2042791T>C	gnomAD
rs1054966806	p.Ala125Gly	missense variant	-	NC_000017.11:g.2042794C>G	TOPMed
rs1265005160	p.Ala126Thr	missense variant	-	NC_000017.11:g.2042796G>A	gnomAD
rs1469719189	p.Ala126Asp	missense variant	-	NC_000017.11:g.2042797C>A	gnomAD
rs777667168	p.Leu127Phe	missense variant	-	NC_000017.11:g.2042799C>T	ExAC,gnomAD
rs1246835922	p.Leu127Arg	missense variant	-	NC_000017.11:g.2042800T>G	gnomAD
rs376955303	p.Cys129Gly	missense variant	-	NC_000017.11:g.2042805T>G	ESP,ExAC,gnomAD
rs571132032	p.Cys129Ter	stop gained	-	NC_000017.11:g.2042807T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1373354825	p.Ala130Thr	missense variant	-	NC_000017.11:g.2042808G>A	gnomAD
rs1297566012	p.Ala134Val	missense variant	-	NC_000017.11:g.2042821C>T	TOPMed
rs1161760694	p.Gly135Val	missense variant	-	NC_000017.11:g.2042824G>T	gnomAD
rs1400546290	p.Arg138His	missense variant	-	NC_000017.11:g.2042833G>A	TOPMed
rs1397165508	p.Arg138Cys	missense variant	-	NC_000017.11:g.2042832C>T	gnomAD
rs1363088691	p.Pro140Leu	missense variant	-	NC_000017.11:g.2042839C>T	gnomAD
rs201826758	p.Pro140Ser	missense variant	-	NC_000017.11:g.2042838C>T	1000Genomes,ExAC,gnomAD
rs772289617	p.Leu141Phe	missense variant	-	NC_000017.11:g.2042843G>C	ExAC,TOPMed,gnomAD
rs1340025889	p.Pro142Leu	missense variant	-	NC_000017.11:g.2042845C>T	gnomAD
rs776391489	p.Arg143Trp	missense variant	-	NC_000017.11:g.2042847C>T	ExAC,gnomAD
rs761320918	p.Ile145Val	missense variant	-	NC_000017.11:g.2042853A>G	ExAC,gnomAD
rs769380354	p.Leu146Phe	missense variant	-	NC_000017.11:g.2042856C>T	ExAC,TOPMed,gnomAD
rs769380354	p.Leu146Ile	missense variant	-	NC_000017.11:g.2042856C>A	ExAC,TOPMed,gnomAD
rs766365678	p.Val148Leu	missense variant	-	NC_000017.11:g.2042862G>T	ExAC
rs751494070	p.Ser149Thr	missense variant	-	NC_000017.11:g.2042865T>A	ExAC
rs759416135	p.Ser149Cys	missense variant	-	NC_000017.11:g.2042866C>G	ExAC,gnomAD
rs767195534	p.Gly150Arg	missense variant	-	NC_000017.11:g.2042868G>C	ExAC,TOPMed
rs767195534	p.Gly150Cys	missense variant	-	NC_000017.11:g.2042868G>T	ExAC,TOPMed
rs752988476	p.Pro153Arg	missense variant	-	NC_000017.11:g.2042878C>G	ExAC,TOPMed,gnomAD
rs1475765921	p.Arg154Gln	missense variant	-	NC_000017.11:g.2042881G>A	gnomAD
rs778012131	p.Arg154Trp	missense variant	-	NC_000017.11:g.2042880C>T	ExAC,TOPMed,gnomAD
rs1387177690	p.Gly155Ser	missense variant	-	NC_000017.11:g.2042883G>A	gnomAD
rs147982466	p.Ile156Thr	missense variant	-	NC_000017.11:g.2042887T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757404246	p.Ile156Val	missense variant	-	NC_000017.11:g.2042886A>G	ExAC,gnomAD
rs746354384	p.Ile156Met	missense variant	-	NC_000017.11:g.2042888T>G	ExAC,TOPMed,gnomAD
rs1315156731	p.Gly157Ala	missense variant	-	NC_000017.11:g.2042890G>C	gnomAD
rs761067744	p.Phe158Leu	missense variant	-	NC_000017.11:g.2042894C>G	ExAC,TOPMed,gnomAD
rs1217885306	p.Leu163Pro	missense variant	-	NC_000017.11:g.2042908T>C	gnomAD
rs1260757704	p.Gln164Arg	missense variant	-	NC_000017.11:g.2042911A>G	gnomAD
rs1198345919	p.Arg165Thr	missense variant	-	NC_000017.11:g.2042914G>C	gnomAD
rs762516476	p.Pro166Thr	missense variant	-	NC_000017.11:g.2042916C>A	ExAC,TOPMed,gnomAD
rs1291202807	p.Pro166Leu	missense variant	-	NC_000017.11:g.2042917C>T	TOPMed
rs1416448993	p.Ser168Leu	missense variant	-	NC_000017.11:g.2042923C>T	TOPMed
rs752374799	p.Pro170Leu	missense variant	-	NC_000017.11:g.2042929C>T	ExAC,TOPMed,gnomAD
rs760502735	p.Ser171Leu	missense variant	-	NC_000017.11:g.2042932C>T	ExAC,TOPMed,gnomAD
rs764581097	p.Leu172Ile	missense variant	-	NC_000017.11:g.2042934C>A	ExAC,gnomAD
rs1307545991	p.His173Arg	missense variant	-	NC_000017.11:g.2042938A>G	gnomAD
rs1464653625	p.Val174Phe	missense variant	-	NC_000017.11:g.2042940G>T	gnomAD
rs754077305	p.Asp177Tyr	missense variant	-	NC_000017.11:g.2042949G>T	ExAC,TOPMed,gnomAD
rs765358031	p.Thr178Ser	missense variant	-	NC_000017.11:g.2042952A>T	ExAC,gnomAD
rs1353351151	p.Asp179Asn	missense variant	-	NC_000017.11:g.2042955G>A	gnomAD
rs1225361068	p.Lys180Glu	missense variant	-	NC_000017.11:g.2042958A>G	TOPMed,gnomAD
rs750970512	p.Lys180Arg	missense variant	-	NC_000017.11:g.2042959A>G	ExAC,gnomAD
rs140891546	p.Val181Gly	missense variant	-	NC_000017.11:g.2042962T>G	ESP,ExAC,TOPMed,gnomAD
rs140891546	p.Val181Asp	missense variant	-	NC_000017.11:g.2042962T>A	ESP,ExAC,TOPMed,gnomAD
rs370411043	p.Val181Ile	missense variant	-	NC_000017.11:g.2042961G>A	ESP,ExAC,TOPMed,gnomAD
rs755366316	p.Pro183Leu	missense variant	-	NC_000017.11:g.2042968C>T	ExAC
rs144850435	p.Ser184Ala	missense variant	-	NC_000017.11:g.2042970T>G	ESP,ExAC,TOPMed,gnomAD
rs748920646	p.Ser184Phe	missense variant	-	NC_000017.11:g.2042971C>T	ExAC,TOPMed,gnomAD
rs770453617	p.Gln185Glu	missense variant	-	NC_000017.11:g.2042973C>G	ExAC,TOPMed,gnomAD
rs745829483	p.Glu186Ter	stop gained	-	NC_000017.11:g.2042976G>T	ExAC,TOPMed,gnomAD
rs537387783	p.Ser187Arg	missense variant	-	NC_000017.11:g.2042981T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771958531	p.Ser187Cys	missense variant	-	NC_000017.11:g.2042979A>T	ExAC,gnomAD
rs537387783	p.Ser187Arg	missense variant	-	NC_000017.11:g.2042981T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374371278	p.Ser187Thr	missense variant	-	NC_000017.11:g.2042980G>C	ESP,ExAC,TOPMed,gnomAD
rs374371278	p.Ser187Asn	missense variant	-	NC_000017.11:g.2042980G>A	ESP,ExAC,TOPMed,gnomAD
rs967837842	p.Val188Gly	missense variant	-	NC_000017.11:g.2042983T>G	gnomAD
rs967837842	p.Val188Ala	missense variant	-	NC_000017.11:g.2042983T>C	gnomAD
rs765410533	p.Leu190Gln	missense variant	-	NC_000017.11:g.2042989T>A	ExAC,gnomAD
rs762085995	p.Leu190Val	missense variant	-	NC_000017.11:g.2042988C>G	ExAC,TOPMed,gnomAD
rs750414536	p.Ala191Val	missense variant	-	NC_000017.11:g.2042992C>T	ExAC,TOPMed,gnomAD
rs1157246939	p.Ser192Gly	missense variant	-	NC_000017.11:g.2042994A>G	TOPMed
rs1468275115	p.Ser192Arg	missense variant	-	NC_000017.11:g.2042996C>G	TOPMed
rs766862540	p.Pro195Ala	missense variant	-	NC_000017.11:g.2043003C>G	ExAC,TOPMed,gnomAD
rs755389251	p.Ala197Val	missense variant	-	NC_000017.11:g.2043010C>T	ExAC,gnomAD
rs1270509025	p.Thr199Ser	missense variant	-	NC_000017.11:g.2043016C>G	gnomAD
rs779332793	p.Leu200Phe	missense variant	-	NC_000017.11:g.2043018C>T	gnomAD
rs373760635	p.Thr201Pro	missense variant	-	NC_000017.11:g.2043021A>C	ExAC,TOPMed,gnomAD
rs1253666413	p.Gly204Ala	missense variant	-	NC_000017.11:g.2043031G>C	gnomAD
rs778612638	p.Gly205Ser	missense variant	-	NC_000017.11:g.2043033G>A	ExAC,TOPMed,gnomAD
rs745433139	p.His206Gln	missense variant	-	NC_000017.11:g.2043038C>G	ExAC,gnomAD
rs750669088	p.His206Tyr	missense variant	-	NC_000017.11:g.2043036C>T	gnomAD
rs771576688	p.Phe207Leu	missense variant	-	NC_000017.11:g.2043041C>G	ExAC,TOPMed,gnomAD
rs1349068173	p.Ile208Thr	missense variant	-	NC_000017.11:g.2043043T>C	gnomAD
rs775333931	p.Ile208Leu	missense variant	-	NC_000017.11:g.2043042A>C	ExAC,gnomAD
rs775333931	p.Ile208Phe	missense variant	-	NC_000017.11:g.2043042A>T	ExAC,gnomAD
rs746915141	p.Pro209Leu	missense variant	-	NC_000017.11:g.2043046C>T	ExAC,TOPMed,gnomAD
rs201370540	p.Ala210Val	missense variant	-	NC_000017.11:g.2043049C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200430646	p.Ala210Pro	missense variant	-	NC_000017.11:g.2043048G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200430646	p.Ala210Thr	missense variant	-	NC_000017.11:g.2043048G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201370540	p.Ala210Glu	missense variant	-	NC_000017.11:g.2043049C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200430646	p.Ala210Ser	missense variant	-	NC_000017.11:g.2043048G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1433633343	p.Ala211Val	missense variant	-	NC_000017.11:g.2043052C>T	gnomAD
NCI-TCGA novel	p.Ala212Gly	missense variant	-	NC_000017.11:g.2043055C>G	NCI-TCGA
rs1363716626	p.Gln214Ter	stop gained	-	NC_000017.11:g.2043060C>T	gnomAD
rs762983366	p.Arg215Ser	missense variant	-	NC_000017.11:g.2043063C>A	ExAC,gnomAD
rs766465095	p.Tyr218His	missense variant	-	NC_000017.11:g.2043072T>C	ExAC,TOPMed,gnomAD
rs752033411	p.Tyr218Cys	missense variant	-	NC_000017.11:g.2043073A>G	ExAC,TOPMed,gnomAD
rs193209375	p.Leu219Pro	missense variant	-	NC_000017.11:g.2043076T>C	1000Genomes
rs145145227	p.Leu219Phe	missense variant	-	NC_000017.11:g.2043075C>T	ESP,ExAC,TOPMed,gnomAD
rs145145227	p.Leu219Val	missense variant	-	NC_000017.11:g.2043075C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys220Glu	missense variant	-	NC_000017.11:g.2043078A>G	NCI-TCGA
rs767875191	p.Leu222Trp	missense variant	-	NC_000017.11:g.2043085T>G	ExAC,gnomAD
rs995658052	p.Gln224Ter	stop gained	-	NC_000017.11:g.2043090C>T	TOPMed
rs1243908833	p.Phe225Ser	missense variant	-	NC_000017.11:g.2043094T>C	TOPMed,gnomAD
rs756462682	p.Ala226Val	missense variant	-	NC_000017.11:g.2043097C>T	ExAC,TOPMed
rs778467042	p.Ter228Arg	stop lost	-	NC_000017.11:g.2043102T>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C2745900	Promyelocytic leukemia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0016787	hydrolase activity	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0032526	response to retinoic acid	IDA
GO:0032526	response to retinoic acid	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000079	Acetaldehyde	OVCA2 gene mutant form results in increased susceptibility to Acetaldehyde	31059574
D000082	Acetaminophen	Acetaminophen affects the expression of OVCA2 mRNA	17562736
D001280	Atrazine	Atrazine results in increased expression of OVCA2 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of OVCA2 mRNA	22378314
C006780	bisphenol A	bisphenol A results in decreased methylation of OVCA2 promoter	30906313
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of OVCA2 mRNA	19549813
D003976	Diazinon	Diazinon results in increased methylation of OVCA2 gene	22964155
D004317	Doxorubicin	Doxorubicin results in decreased expression of OVCA2 mRNA	29803840
D005485	Flutamide	Flutamide results in increased expression of OVCA2 mRNA	24136188
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of OVCA2 mRNA	25613284
C051752	nefazodone	nefazodone results in increased expression of OVCA2 mRNA	24136188
C012655	nimesulide	nimesulide results in increased expression of OVCA2 mRNA	24136188
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of OVCA2 mRNA	24680724
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of OVCA2 mRNA	25613284
D014635	Valproic Acid	Valproic Acid results in increased methylation of OVCA2 gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of OVCA2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0378	Hydrolase
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR029058	AB_hydrolase
IPR005645	FSH_dom

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03959	FSH1

Gene: OVCA2

Basic information

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

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