CleftGeneDB-Search

Gene: PARVA

Basic information

Tag	Content
Uniprot ID	Q9NVD7; Q96C85; Q9HA48;
Entrez ID	55742
Genbank protein ID	AAH16713.1; BAB14009.1; AAK49911.1; AAG27173.1; BAA91815.1; AAH14535.1;
Genbank nucleotide ID	NM_018222.4
Ensembl protein ID	ENSP00000334008
Ensembl nucleotide ID	ENSG00000197702
Gene name	Alpha-parvin
Gene symbol	PARVA
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and directed cell migration.
Sequence	MATSPQKSPS VPKSPTPKSP PSRKKDDSFL GKLGGTLARR KKAKEVSELQ EEGMNAINLP 60 LSPIPFELDP EDTMLEENEV RTMVDPNSRS DPKLQELMKV LIDWINDVLV GERIIVKDLA 120 EDLYDGQVLQ KLFEKLESEK LNVAEVTQSE IAQKQKLQTV LEKINETLKL PPRSIKWNVD 180 SVHAKSLVAI LHLLVALSQY FRAPIRLPDH VSIQVVVVQK REGILQSRQI QEEITGNTEA 240 LSGRHERDAF DTLFDHAPDK LNVVKKTLIT FVNKHLNKLN LEVTELETQF ADGVYLVLLM 300 GLLEGYFVPL HSFFLTPDSF EQKVLNVSFA FELMQDGGLE KPKPRPEDIV NCDLKSTLRV 360 LYNLFTKYRN VE 372

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
2K2R
2VZC
2VZD
2VZG
2VZI
3KMU
3KMW
3REP
6MIB
2VZC

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PARVA	c.1095G>C; p.L365F	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1220232473	p.Ser4Tyr	missense variant	-	NC_000011.10:g.12377658C>A	gnomAD
rs769301976	p.Ser4Thr	missense variant	-	NC_000011.10:g.12377657T>A	ExAC,gnomAD
rs1285740843	p.Pro5Gln	missense variant	-	NC_000011.10:g.12377661C>A	TOPMed
rs1285740843	p.Pro5Arg	missense variant	-	NC_000011.10:g.12377661C>G	TOPMed
rs1192644696	p.Gln6Leu	missense variant	-	NC_000011.10:g.12377664A>T	gnomAD
rs1157026012	p.Val11Leu	missense variant	-	NC_000011.10:g.12377678G>C	gnomAD
rs1417505146	p.Pro12Ser	missense variant	-	NC_000011.10:g.12377681C>T	gnomAD
rs763274857	p.Lys13Arg	missense variant	-	NC_000011.10:g.12377685A>G	ExAC,gnomAD
rs767292001	p.Ser14Pro	missense variant	-	NC_000011.10:g.12377687T>C	ExAC,gnomAD
rs1457800171	p.Pro15Ser	missense variant	-	NC_000011.10:g.12377690C>T	gnomAD
rs1301906730	p.Thr16Asn	missense variant	-	NC_000011.10:g.12377694C>A	gnomAD
rs752541701	p.Pro17Ala	missense variant	-	NC_000011.10:g.12377696C>G	ExAC,TOPMed,gnomAD
rs375770268	p.Lys18Met	missense variant	-	NC_000011.10:g.12377700A>T	ESP,ExAC,TOPMed,gnomAD
rs1323144712	p.Lys18Asn	missense variant	-	NC_000011.10:g.12377701G>C	gnomAD
rs375770268	p.Lys18Arg	missense variant	-	NC_000011.10:g.12377700A>G	ESP,ExAC,TOPMed,gnomAD
rs766031142	p.Ser19Leu	missense variant	-	NC_000011.10:g.12377703C>T	TOPMed
rs1370760557	p.Pro20Ser	missense variant	-	NC_000011.10:g.12377705C>T	gnomAD
rs753342433	p.Pro21Ala	missense variant	-	NC_000011.10:g.12377708C>G	ExAC
rs756702517	p.Pro21Leu	missense variant	-	NC_000011.10:g.12377709C>T	ExAC,TOPMed,gnomAD
rs778529124	p.Ser22Phe	missense variant	-	NC_000011.10:g.12377712C>T	ExAC,gnomAD
rs745506221	p.Phe29Leu	missense variant	-	NC_000011.10:g.12377732T>C	ExAC,gnomAD
rs780508269	p.Gly31Glu	missense variant	-	NC_000011.10:g.12377739G>A	ExAC,gnomAD
rs747384550	p.Leu33Val	missense variant	-	NC_000011.10:g.12377744C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg34Leu	missense variant	-	NC_000011.10:g.12377628G>T	NCI-TCGA
NCI-TCGA novel	p.Ser36ThrPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.12377634_12377646GCCTGCGCCGCGC>-	NCI-TCGA
rs1178321351	p.Ala38Thr	missense variant	-	NC_000011.10:g.12377759G>A	TOPMed,gnomAD
rs1239016920	p.Arg39Trp	missense variant	-	NC_000011.10:g.12377762C>T	gnomAD
rs1476655846	p.Lys41Arg	missense variant	-	NC_000011.10:g.12377769A>G	TOPMed
rs777298176	p.Ala43Gly	missense variant	-	NC_000011.10:g.12377775C>G	ExAC,TOPMed,gnomAD
rs777298176	p.Ala43Val	missense variant	-	NC_000011.10:g.12377775C>T	ExAC,TOPMed,gnomAD
rs748736247	p.Lys44Arg	missense variant	-	NC_000011.10:g.12377778A>G	ExAC,gnomAD
rs769731405	p.Glu45Lys	missense variant	-	NC_000011.10:g.12377780G>A	ExAC,gnomAD
rs776551308	p.Val46Ala	missense variant	-	NC_000011.10:g.12473745T>C	ExAC,TOPMed,gnomAD
rs986893634	p.Ser47Phe	missense variant	-	NC_000011.10:g.12473748C>T	TOPMed
rs544299880	p.Glu48Ter	stop gained	-	NC_000011.10:g.12473750G>T	1000Genomes,TOPMed,gnomAD
rs544299880	p.Glu48Lys	missense variant	-	NC_000011.10:g.12473750G>A	1000Genomes,TOPMed,gnomAD
rs544299880	p.Glu48Gln	missense variant	-	NC_000011.10:g.12473750G>C	1000Genomes,TOPMed,gnomAD
rs765226403	p.Gln50His	missense variant	-	NC_000011.10:g.12473758G>C	ExAC,TOPMed,gnomAD
rs879087779	p.Gln50Leu	missense variant	-	NC_000011.10:g.12473757A>T	gnomAD
rs1323918323	p.Glu51Lys	missense variant	-	NC_000011.10:g.12473759G>A	TOPMed,gnomAD
rs749863211	p.Met54Leu	missense variant	-	NC_000011.10:g.12473768A>C	ExAC,gnomAD
rs766034564	p.Asn55Ser	missense variant	-	NC_000011.10:g.12473772A>G	ExAC,gnomAD
rs762576100	p.Asn55His	missense variant	-	NC_000011.10:g.12473771A>C	ExAC,TOPMed,gnomAD
rs368993521	p.Asn55Lys	missense variant	-	NC_000011.10:g.12473773C>G	ESP,ExAC,TOPMed,gnomAD
rs781396749	p.Ala56Thr	missense variant	-	NC_000011.10:g.12473774G>A	ExAC,TOPMed,gnomAD
rs781396749	p.Ala56Ser	missense variant	-	NC_000011.10:g.12473774G>T	ExAC,TOPMed,gnomAD
rs756508908	p.Ala56Gly	missense variant	-	NC_000011.10:g.12473775C>G	ExAC,gnomAD
rs778371739	p.Ile57Met	missense variant	-	NC_000011.10:g.12473779C>G	ExAC,gnomAD
rs770968884	p.Leu59Val	missense variant	-	NC_000011.10:g.12473783C>G	ExAC,gnomAD
rs779035052	p.Pro60Ala	missense variant	-	NC_000011.10:g.12473786C>G	ExAC,TOPMed,gnomAD
rs779035052	p.Pro60Ser	missense variant	-	NC_000011.10:g.12473786C>T	ExAC,TOPMed,gnomAD
rs772353437	p.Leu61Phe	missense variant	-	NC_000011.10:g.12473789C>T	ExAC,gnomAD
rs776223328	p.Ser62Ile	missense variant	-	NC_000011.10:g.12473793G>T	ExAC,gnomAD
rs372841567	p.Ile64Thr	missense variant	-	NC_000011.10:g.12473799T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392679695	p.Ile64Val	missense variant	-	NC_000011.10:g.12473798A>G	gnomAD
rs1446931851	p.Phe66Ser	missense variant	-	NC_000011.10:g.12473805T>C	TOPMed
COSM924300	p.Asp67Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12377726G>T	NCI-TCGA Cosmic
rs577607738	p.Leu68Val	missense variant	-	NC_000011.10:g.12473810C>G	1000Genomes
rs1329638947	p.Pro70Leu	missense variant	-	NC_000011.10:g.12473817C>T	gnomAD
rs138341373	p.Glu71Lys	missense variant	-	NC_000011.10:g.12473819G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs559971958	p.Thr73Met	missense variant	-	NC_000011.10:g.12473826C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1266529204	p.Met74Ile	missense variant	-	NC_000011.10:g.12473830G>A	gnomAD
rs757823145	p.Glu76Asp	missense variant	-	NC_000011.10:g.12473914G>C	ExAC,gnomAD
rs1319004986	p.Asn78Lys	missense variant	-	NC_000011.10:g.12473920T>A	gnomAD
rs778910290	p.Glu79Asp	missense variant	-	NC_000011.10:g.12473923G>T	ExAC,gnomAD
rs1260852693	p.Val80Leu	missense variant	-	NC_000011.10:g.12473924G>T	gnomAD
rs758509655	p.Arg81Ter	stop gained	-	NC_000011.10:g.12473927C>T	ExAC,gnomAD
rs1258207266	p.Met83Leu	missense variant	-	NC_000011.10:g.12473933A>T	gnomAD
rs1258207266	p.Met83Leu	missense variant	-	NC_000011.10:g.12473933A>C	gnomAD
rs1426641587	p.Val84Met	missense variant	-	NC_000011.10:g.12473936G>A	TOPMed
NCI-TCGA novel	p.Lys84Glu	missense variant	-	NC_000011.10:g.12377777A>G	NCI-TCGA
rs1426621846	p.Pro86Leu	missense variant	-	NC_000011.10:g.12473943C>T	gnomAD
rs1478670470	p.Ser88Leu	missense variant	-	NC_000011.10:g.12473949C>T	gnomAD
rs780347455	p.Arg89Cys	missense variant	-	NC_000011.10:g.12473951C>T	ExAC,TOPMed,gnomAD
rs780347455	p.Arg89Gly	missense variant	-	NC_000011.10:g.12473951C>G	ExAC,TOPMed,gnomAD
rs972422207	p.Arg89His	missense variant	-	NC_000011.10:g.12473952G>A	TOPMed,gnomAD
rs1303455316	p.Ser90Gly	missense variant	-	NC_000011.10:g.12473954A>G	gnomAD
rs1398743718	p.Asp91Glu	missense variant	-	NC_000011.10:g.12473959C>G	gnomAD
rs375241379	p.Asp91Val	missense variant	-	NC_000011.10:g.12473958A>T	ESP,ExAC,TOPMed,gnomAD
rs1398743718	p.Asp91Glu	missense variant	-	NC_000011.10:g.12473959C>A	gnomAD
rs1344358069	p.Pro92Thr	missense variant	-	NC_000011.10:g.12473960C>A	gnomAD
rs1386782360	p.Pro92Leu	missense variant	-	NC_000011.10:g.12473961C>T	gnomAD
rs1341585791	p.Leu94Val	missense variant	-	NC_000011.10:g.12473966C>G	gnomAD
rs1341585791	p.Leu94Phe	missense variant	-	NC_000011.10:g.12473966C>T	gnomAD
rs773207205	p.Gln95His	missense variant	-	NC_000011.10:g.12473971A>C	ExAC,gnomAD
rs1298749730	p.Gln95Arg	missense variant	-	NC_000011.10:g.12473970A>G	gnomAD
NCI-TCGA novel	p.Ala96Val	missense variant	-	NC_000011.10:g.12473775C>T	NCI-TCGA
rs749224463	p.Glu96Ter	stop gained	-	NC_000011.10:g.12473972G>T	ExAC,gnomAD
rs369665356	p.Ile102Thr	missense variant	-	NC_000011.10:g.12477854T>C	ESP,ExAC,TOPMed,gnomAD
rs1374122018	p.Trp104Cys	missense variant	-	NC_000011.10:g.12477861G>T	gnomAD
rs776941305	p.Leu109Phe	missense variant	-	NC_000011.10:g.12477876G>T	ExAC,TOPMed,gnomAD
rs776941305	p.Leu109Phe	missense variant	-	NC_000011.10:g.12477876G>C	ExAC,TOPMed,gnomAD
rs920537205	p.Val110Ala	missense variant	-	NC_000011.10:g.12477878T>C	gnomAD
rs879121302	p.Val110Ile	missense variant	-	NC_000011.10:g.12477877G>A	TOPMed
rs762189104	p.Gly111Glu	missense variant	-	NC_000011.10:g.12477881G>A	ExAC,gnomAD
rs765640969	p.Glu112Asp	missense variant	-	NC_000011.10:g.12477885A>C	ExAC,gnomAD
rs1378439774	p.Glu112Lys	missense variant	-	NC_000011.10:g.12477883G>A	gnomAD
NCI-TCGA novel	p.Glu116Val	missense variant	-	NC_000011.10:g.12473913A>T	NCI-TCGA
rs763435438	p.Val116Glu	missense variant	-	NC_000011.10:g.12477896T>A	ExAC,gnomAD
rs1435372824	p.Asp118Asn	missense variant	-	NC_000011.10:g.12477901G>A	TOPMed
rs1456574035	p.Ala120Asp	missense variant	-	NC_000011.10:g.12477908C>A	gnomAD
rs1238918687	p.Leu123Phe	missense variant	-	NC_000011.10:g.12477918G>C	gnomAD
rs751603811	p.Leu123Met	missense variant	-	NC_000011.10:g.12477916T>A	ExAC,TOPMed,gnomAD
rs879179495	p.Tyr124Cys	missense variant	-	NC_000011.10:g.12477920A>G	TOPMed,gnomAD
rs1180694478	p.Val128Ile	missense variant	-	NC_000011.10:g.12477931G>A	gnomAD
rs1166715120	p.Gln130Glu	missense variant	-	NC_000011.10:g.12477937C>G	TOPMed
NCI-TCGA novel	p.Pro132His	missense variant	-	NC_000011.10:g.12473961C>A	NCI-TCGA
rs781591602	p.Glu134Lys	missense variant	-	NC_000011.10:g.12477949G>A	ExAC,TOPMed,gnomAD
rs781591602	p.Glu134Gln	missense variant	-	NC_000011.10:g.12477949G>C	ExAC,TOPMed,gnomAD
rs775728652	p.Leu136Val	missense variant	-	NC_000011.10:g.12496463C>G	ExAC,gnomAD
rs529866610	p.Glu137Lys	missense variant	-	NC_000011.10:g.12496466G>A	1000Genomes,ExAC,gnomAD
rs750187645	p.Ser138Asn	missense variant	-	NC_000011.10:g.12496470G>A	ExAC,TOPMed,gnomAD
rs750187645	p.Ser138Thr	missense variant	-	NC_000011.10:g.12496470G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu141Phe	missense variant	-	NC_000011.10:g.12477852A>C	NCI-TCGA
rs766240351	p.Gln148Lys	missense variant	-	NC_000011.10:g.12496499C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile154Val	missense variant	-	NC_000011.10:g.12477889A>G	NCI-TCGA
rs747657632	p.Val160Ile	missense variant	-	NC_000011.10:g.12496535G>A	ExAC,gnomAD
rs1209552551	p.Lys163Arg	missense variant	-	NC_000011.10:g.12496545A>G	gnomAD
rs1321153643	p.Ile164Val	missense variant	-	NC_000011.10:g.12496547A>G	gnomAD
rs777313656	p.Asn165Lys	missense variant	-	NC_000011.10:g.12496552T>G	ExAC,gnomAD
rs878967278	p.Glu166Asp	missense variant	-	NC_000011.10:g.12496555A>C	TOPMed
rs771167622	p.Glu166Ala	missense variant	-	NC_000011.10:g.12496554A>C	ExAC,gnomAD
rs749018187	p.Glu166Lys	missense variant	-	NC_000011.10:g.12496553G>A	ExAC,gnomAD
rs746321591	p.Leu168Pro	missense variant	-	NC_000011.10:g.12496560T>C	ExAC,gnomAD
rs772712254	p.Lys169Ile	missense variant	-	NC_000011.10:g.12496563A>T	ExAC
rs374458438	p.Pro172Ser	missense variant	-	NC_000011.10:g.12496571C>T	ESP,ExAC,TOPMed,gnomAD
rs1163578533	p.Arg173Gly	missense variant	-	NC_000011.10:g.12496574A>G	gnomAD
rs1395537456	p.Arg173Ser	missense variant	-	NC_000011.10:g.12496576G>T	gnomAD
rs1463251238	p.Asp180Asn	missense variant	-	NC_000011.10:g.12496595G>A	gnomAD
rs1398469057	p.Ser181Cys	missense variant	-	NC_000011.10:g.12504314C>G	gnomAD
rs1007756485	p.Val182Leu	missense variant	-	NC_000011.10:g.12504316G>C	TOPMed
rs756989956	p.Lys185Asn	missense variant	-	NC_000011.10:g.12504327G>C	ExAC,TOPMed,gnomAD
rs1315546563	p.Leu187Arg	missense variant	-	NC_000011.10:g.12504332T>G	TOPMed
NCI-TCGA novel	p.Ser189Ter	stop gained	-	NC_000011.10:g.12496503C>A	NCI-TCGA
rs1201027192	p.Ile190Thr	missense variant	-	NC_000011.10:g.12504341T>C	gnomAD
rs772658955	p.Ile190Met	missense variant	-	NC_000011.10:g.12504342C>G	ExAC,gnomAD
rs1487192385	p.His192Asn	missense variant	-	NC_000011.10:g.12504346C>A	gnomAD
rs1224116366	p.His192Gln	missense variant	-	NC_000011.10:g.12504348C>A	TOPMed
rs1192602623	p.Leu194Val	missense variant	-	NC_000011.10:g.12504352C>G	gnomAD
rs139671632	p.Val195Ile	missense variant	-	NC_000011.10:g.12504355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1393331064	p.Ala196Thr	missense variant	-	NC_000011.10:g.12504358G>A	TOPMed
NCI-TCGA novel	p.Lys196AsnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.12496521A>-	NCI-TCGA
rs1376050330	p.Leu197Gln	missense variant	-	NC_000011.10:g.12504362T>A	gnomAD
rs1174821611	p.Gln199Arg	missense variant	-	NC_000011.10:g.12504368A>G	gnomAD
rs368255590	p.Gln199His	missense variant	-	NC_000011.10:g.12504369G>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu201Met	missense variant	-	NC_000011.10:g.12496538C>A	NCI-TCGA
rs774089763	p.Arg202Cys	missense variant	-	NC_000011.10:g.12504376C>T	ExAC,TOPMed,gnomAD
rs200911218	p.Arg202His	missense variant	-	NC_000011.10:g.12504377G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752598937	p.Ala203Thr	missense variant	-	NC_000011.10:g.12504379G>A	ExAC,TOPMed,gnomAD
rs1376248453	p.Ile205Asn	missense variant	-	NC_000011.10:g.12504386T>A	TOPMed
rs567869261	p.Ile205Val	missense variant	-	NC_000011.10:g.12504385A>G	1000Genomes,ExAC,gnomAD
rs763496973	p.Arg206Gln	missense variant	-	NC_000011.10:g.12504389G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu208Met	missense variant	-	NC_000011.10:g.12496559C>A	NCI-TCGA
rs781246322	p.Asp209Glu	missense variant	-	NC_000011.10:g.12504399C>A	TOPMed
rs756821180	p.Val211Ile	missense variant	-	NC_000011.10:g.12504403G>A	ExAC,gnomAD
rs778731820	p.Gln214His	missense variant	-	NC_000011.10:g.12504414A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser214Ile	missense variant	-	NC_000011.10:g.12496578G>T	NCI-TCGA
rs1188574643	p.Val215Met	missense variant	-	NC_000011.10:g.12504415G>A	gnomAD
rs758808635	p.Val216Leu	missense variant	-	NC_000011.10:g.12504418G>C	ExAC,TOPMed,gnomAD
rs1464842307	p.Arg221Ter	stop gained	-	NC_000011.10:g.12508587C>T	TOPMed
rs537951619	p.Arg221Leu	missense variant	-	NC_000011.10:g.12508588G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs537951619	p.Arg221Gln	missense variant	-	NC_000011.10:g.12508588G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs879108461	p.Glu222Gly	missense variant	-	NC_000011.10:g.12508591A>G	gnomAD
rs1043174766	p.Gly223Arg	missense variant	-	NC_000011.10:g.12508593G>A	gnomAD
rs781731843	p.Leu225Phe	missense variant	-	NC_000011.10:g.12508599C>T	ExAC,gnomAD
rs759540544	p.Gln226Arg	missense variant	-	NC_000011.10:g.12508603A>G	gnomAD
rs765042412	p.Arg228Pro	missense variant	-	NC_000011.10:g.12508609G>C	ExAC,TOPMed,gnomAD
rs149031199	p.Arg228Trp	missense variant	-	NC_000011.10:g.12508608C>T	1000Genomes,ExAC,gnomAD
rs765042412	p.Arg228Gln	missense variant	-	NC_000011.10:g.12508609G>A	ExAC,TOPMed,gnomAD
rs1311794482	p.Ile230Val	missense variant	-	NC_000011.10:g.12508614A>G	gnomAD
rs1335215698	p.Ile230Met	missense variant	-	NC_000011.10:g.12508616C>G	gnomAD
rs1311794482	p.Ile230Phe	missense variant	-	NC_000011.10:g.12508614A>T	gnomAD
rs1234197930	p.Gln231Arg	missense variant	-	NC_000011.10:g.12508618A>G	gnomAD
rs771152861	p.Ile234Val	missense variant	-	NC_000011.10:g.12508626A>G	ExAC,TOPMed,gnomAD
rs937843581	p.Ile234Met	missense variant	-	NC_000011.10:g.12508628A>G	TOPMed,gnomAD
rs775110168	p.Thr235Ser	missense variant	-	NC_000011.10:g.12508630C>G	ExAC,gnomAD
rs1262204452	p.Thr238Ile	missense variant	-	NC_000011.10:g.12508639C>T	TOPMed
rs1262204452	p.Thr238Arg	missense variant	-	NC_000011.10:g.12508639C>G	TOPMed
rs1203843818	p.Thr238Ala	missense variant	-	NC_000011.10:g.12508638A>G	gnomAD
rs748042946	p.Glu239Asp	missense variant	-	NC_000011.10:g.12511514G>T	ExAC,gnomAD
rs769861601	p.Leu241Val	missense variant	-	NC_000011.10:g.12511518C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg242AlaPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.12504375C>-	NCI-TCGA
NCI-TCGA novel	p.Arg242Leu	missense variant	-	NC_000011.10:g.12504377G>T	NCI-TCGA
rs202042601	p.Gly243Arg	missense variant	-	NC_000011.10:g.12511524G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM4019025	p.Pro244Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12504383C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro244Gln	missense variant	-	NC_000011.10:g.12504383C>A	NCI-TCGA
rs766032343	p.Arg244Lys	missense variant	-	NC_000011.10:g.12511528G>A	ExAC,TOPMed,gnomAD
rs946882037	p.Arg247Cys	missense variant	-	NC_000011.10:g.12513301C>T	gnomAD
rs1216380128	p.Arg247Pro	missense variant	-	NC_000011.10:g.12513302G>C	TOPMed,gnomAD
rs1216380128	p.Arg247His	missense variant	-	NC_000011.10:g.12513302G>A	TOPMed,gnomAD
rs1250320095	p.Ala249Ser	missense variant	-	NC_000011.10:g.12513307G>T	gnomAD
rs1286000429	p.Leu253Met	missense variant	-	NC_000011.10:g.12513319T>A	TOPMed
rs1276340670	p.Asp255Asn	missense variant	-	NC_000011.10:g.12513325G>A	gnomAD
rs370886582	p.His256Arg	missense variant	-	NC_000011.10:g.12513329A>G	ESP,ExAC,TOPMed,gnomAD
rs1188335688	p.Pro258Ser	missense variant	-	NC_000011.10:g.12513334C>T	gnomAD
rs776996628	p.Asp259Gly	missense variant	-	NC_000011.10:g.12513338A>G	ExAC,gnomAD
rs1332732045	p.Asn262Ser	missense variant	-	NC_000011.10:g.12513347A>G	TOPMed
rs1191282183	p.Lys265Ile	missense variant	-	NC_000011.10:g.12513356A>T	gnomAD
NCI-TCGA novel	p.Leu265Ile	missense variant	-	NC_000011.10:g.12508599C>A	NCI-TCGA
rs1197617218	p.Lys266Met	missense variant	-	NC_000011.10:g.12513359A>T	TOPMed,gnomAD
rs755802130	p.Thr267Arg	missense variant	-	NC_000011.10:g.12513998C>G	ExAC,gnomAD
rs749693080	p.Leu268Pro	missense variant	-	NC_000011.10:g.12514001T>C	ExAC,gnomAD
rs749693080	p.Leu268His	missense variant	-	NC_000011.10:g.12514001T>A	ExAC,gnomAD
rs1360033127	p.Ile269Val	missense variant	-	NC_000011.10:g.12514003A>G	gnomAD
rs1268169066	p.Val272Met	missense variant	-	NC_000011.10:g.12514012G>A	TOPMed
rs1344980053	p.Lys274Asn	missense variant	-	NC_000011.10:g.12514020G>T	TOPMed,gnomAD
rs1331498561	p.Leu276Val	missense variant	-	NC_000011.10:g.12514024C>G	TOPMed
rs1211883837	p.Asn280Ser	missense variant	-	NC_000011.10:g.12514037A>G	gnomAD
NCI-TCGA novel	p.Leu281Ile	missense variant	-	NC_000011.10:g.12511518C>A	NCI-TCGA
rs916688195	p.Glu282Gln	missense variant	-	NC_000011.10:g.12514042G>C	TOPMed,gnomAD
rs1239990442	p.Val283Leu	missense variant	-	NC_000011.10:g.12514045G>C	gnomAD
rs775654238	p.Gln289Leu	missense variant	-	NC_000011.10:g.12514064A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp291His	missense variant	-	NC_000011.10:g.12513313G>C	NCI-TCGA
rs1269619011	p.Asp292Asn	missense variant	-	NC_000011.10:g.12517616G>A	gnomAD
rs188970789	p.Gly293Glu	missense variant	-	NC_000011.10:g.12517620G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1212490785	p.Val294Met	missense variant	-	NC_000011.10:g.12517622G>A	gnomAD
rs1453281598	p.Tyr295Asn	missense variant	-	NC_000011.10:g.12517625T>A	gnomAD
rs1261179701	p.Val297Met	missense variant	-	NC_000011.10:g.12517631G>A	TOPMed
rs1414438434	p.Gly305Ser	missense variant	-	NC_000011.10:g.12517655G>A	gnomAD
NCI-TCGA novel	p.Lys306Arg	missense variant	-	NC_000011.10:g.12513359A>G	NCI-TCGA
rs1164340581	p.Tyr306His	missense variant	-	NC_000011.10:g.12517658T>C	gnomAD
NCI-TCGA novel	p.Thr307Ala	missense variant	-	NC_000011.10:g.12513997A>G	NCI-TCGA
rs1303443263	p.Val308Leu	missense variant	-	NC_000011.10:g.12517664G>T	TOPMed
rs1391477190	p.Val308Ala	missense variant	-	NC_000011.10:g.12517665T>C	gnomAD
rs759398765	p.Pro309Ala	missense variant	-	NC_000011.10:g.12517667C>G	ExAC,gnomAD
rs759398765	p.Pro309Ser	missense variant	-	NC_000011.10:g.12517667C>T	ExAC,gnomAD
rs1335608725	p.Ser312Cys	missense variant	-	NC_000011.10:g.12517676A>T	gnomAD
COSM4019039	p.Asn313Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12514016A>G	NCI-TCGA Cosmic
rs530168252	p.Phe313Cys	missense variant	-	NC_000011.10:g.12517680T>G	1000Genomes,ExAC,gnomAD
rs774812023	p.Phe313Leu	missense variant	-	NC_000011.10:g.12517679T>C	ExAC,TOPMed,gnomAD
rs763551973	p.Phe314Ser	missense variant	-	NC_000011.10:g.12517683T>C	ExAC,gnomAD
rs756984126	p.Pro317Leu	missense variant	-	NC_000011.10:g.12517692C>T	ExAC,TOPMed,gnomAD
rs1162032726	p.Pro317Ala	missense variant	-	NC_000011.10:g.12517691C>G	TOPMed
rs1438232541	p.Asp318Asn	missense variant	-	NC_000011.10:g.12517694G>A	gnomAD
rs750850989	p.Ser319Gly	missense variant	-	NC_000011.10:g.12517697A>G	ExAC,gnomAD
rs569998129	p.Ser319Asn	missense variant	-	NC_000011.10:g.12517698G>A	1000Genomes,ExAC,gnomAD
rs780590825	p.Glu321Asp	missense variant	-	NC_000011.10:g.12517705A>C	ExAC,gnomAD
rs1473813838	p.Lys323Thr	missense variant	-	NC_000011.10:g.12517710A>C	gnomAD
rs370572029	p.Leu325Phe	missense variant	-	NC_000011.10:g.12518450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1380128039	p.Ser328Pro	missense variant	-	NC_000011.10:g.12518457T>C	TOPMed,gnomAD
rs180994495	p.Met334Leu	missense variant	-	NC_000011.10:g.12518475A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750152292	p.Met334Thr	missense variant	-	NC_000011.10:g.12518476T>C	ExAC,gnomAD
rs180994495	p.Met334Val	missense variant	-	NC_000011.10:g.12518475A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs878857923	p.Asp336Val	missense variant	-	NC_000011.10:g.12518482A>T	TOPMed
rs878857923	p.Asp336Gly	missense variant	-	NC_000011.10:g.12518482A>G	TOPMed
rs879232510	p.Gly337Arg	missense variant	-	NC_000011.10:g.12518484G>A	gnomAD
rs758761824	p.Gly338Glu	missense variant	-	NC_000011.10:g.12518488G>A	ExAC,gnomAD
rs1161674420	p.Leu339Ser	missense variant	-	NC_000011.10:g.12518491T>C	TOPMed
rs752097398	p.Leu339Phe	missense variant	-	NC_000011.10:g.12518492G>C	ExAC,TOPMed,gnomAD
rs755449232	p.Pro342Thr	missense variant	-	NC_000011.10:g.12518499C>A	ExAC,gnomAD
rs781178760	p.Pro344Leu	missense variant	-	NC_000011.10:g.12518506C>T	ExAC,TOPMed,gnomAD
rs980427435	p.Arg345Trp	missense variant	-	NC_000011.10:g.12518508C>T	TOPMed,gnomAD
rs967114316	p.Arg345Gln	missense variant	-	NC_000011.10:g.12518509G>A	TOPMed
rs1200536181	p.Glu347Ala	missense variant	-	NC_000011.10:g.12518515A>C	TOPMed
rs1404768628	p.Asp348Asn	missense variant	-	NC_000011.10:g.12518517G>A	TOPMed,gnomAD
rs368738082	p.Ile349Val	missense variant	-	NC_000011.10:g.12527851A>G	ESP,ExAC,TOPMed,gnomAD
rs1402581339	p.Ile349Met	missense variant	-	NC_000011.10:g.12527853A>G	TOPMed
rs368738082	p.Ile349Leu	missense variant	-	NC_000011.10:g.12527851A>T	ESP,ExAC,TOPMed,gnomAD
rs900680046	p.Val350Gly	missense variant	-	NC_000011.10:g.12527855T>G	TOPMed
rs371222319	p.Cys352Tyr	missense variant	-	NC_000011.10:g.12527861G>A	ESP,ExAC,TOPMed,gnomAD
COSM3868757	p.Phe353Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12517680T>C	NCI-TCGA Cosmic
rs554047686	p.Lys355Arg	missense variant	-	NC_000011.10:g.12527870A>G	1000Genomes
rs753250695	p.Arg359Ter	stop gained	-	NC_000011.10:g.12527881C>T	ExAC,gnomAD
rs756153904	p.Arg359Gln	missense variant	-	NC_000011.10:g.12527882G>A	ExAC,gnomAD
rs1393029237	p.Tyr362His	missense variant	-	NC_000011.10:g.12527890T>C	gnomAD
rs777895682	p.Tyr362Cys	missense variant	-	NC_000011.10:g.12527891A>G	ExAC,gnomAD
rs754077970	p.Leu364Phe	missense variant	-	NC_000011.10:g.12527896C>T	ExAC,gnomAD
rs754077970	p.Leu364Val	missense variant	-	NC_000011.10:g.12527896C>G	ExAC,gnomAD
rs1478564474	p.Lys367Asn	missense variant	-	NC_000011.10:g.12527907G>C	TOPMed
COSM3444960	p.Ser368Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12518458C>T	NCI-TCGA Cosmic
rs200255035	p.Arg369Cys	missense variant	-	NC_000011.10:g.12527911C>T	ExAC,TOPMed,gnomAD
rs1288006895	p.Arg369His	missense variant	-	NC_000011.10:g.12527912G>A	gnomAD
rs746803592	p.Val371Met	missense variant	-	NC_000011.10:g.12527917G>A	ExAC,TOPMed,gnomAD
rs768623207	p.Glu372Gln	missense variant	-	NC_000011.10:g.12527920G>C	ExAC,TOPMed,gnomAD
rs748165530	p.Ter373Arg	stop lost	-	NC_000011.10:g.12527923T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp376Tyr	missense variant	-	NC_000011.10:g.12518481G>T	NCI-TCGA
NCI-TCGA novel	p.Asn403Ile	missense variant	-	NC_000011.10:g.12527894A>T	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0013146	Drug abuse	disease	CTD_human
C0013170	Drug habituation	phenotype	CTD_human
C0013222	Drug Use Disorders	group	CTD_human
C0029231	Organic Mental Disorders, Substance-Induced	disease	CTD_human
C0038580	Substance Dependence	disease	CTD_human
C0038586	Substance Use Disorders	group	CTD_human
C0236969	Substance-Related Disorders	group	CTD_human
C0740858	Substance abuse problem	disease	CTD_human
C1510472	Drug Dependence	phenotype	CTD_human
C4316881	Prescription Drug Abuse	phenotype	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003779	actin binding	IBA
GO:0005515	protein binding	IPI
GO:0045296	cadherin binding	HDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002040	sprouting angiogenesis	ISS
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0007163	establishment or maintenance of cell polarity	ISS
GO:0007163	establishment or maintenance of cell polarity	IBA
GO:0008360	regulation of cell shape	IEA
GO:0030031	cell projection assembly	IBA
GO:0031532	actin cytoskeleton reorganization	IBA
GO:0034113	heterotypic cell-cell adhesion	ISS
GO:0034446	substrate adhesion-dependent cell spreading	IMP
GO:0034446	substrate adhesion-dependent cell spreading	IBA
GO:0060271	cilium assembly	IMP
GO:0060271	cilium assembly	IBA
GO:0070252	actin-mediated cell contraction	ISS
GO:0071670	smooth muscle cell chemotaxis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IEA
GO:0005737	cytoplasm	IBA
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IEA
GO:0005925	focal adhesion	IDA
GO:0005925	focal adhesion	HDA
GO:0005925	focal adhesion	IBA
GO:0015629	actin cytoskeleton	IBA
GO:0030018	Z disc	IEA
GO:0030027	lamellipodium	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1500931	Cell-Cell communication	TAS
R-HSA-446343	Localization of the PINCH-ILK-PARVIN complex to focal adhesions	TAS
R-HSA-446353	Cell-extracellular matrix interactions	TAS
R-HSA-446388	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	TAS
R-HSA-446728	Cell junction organization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PARVA mRNA	25510870
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of PARVA mRNA	19167446
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PARVA mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PARVA mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PARVA mRNA	25510870
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of PARVA mRNA	21346803
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PARVA mRNA	25510870
C572491	3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol results in increased expression of PARVA protein	26194647
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 PARVA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PARVA mRNA	27188386
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 PARVA mRNA	27188386
D000082	Acetaminophen	Acetaminophen affects the expression of PARVA mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PARVA mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of PARVA intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride results in decreased expression of PARVA protein	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PARVA mRNA	24449571
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PARVA mRNA	19770486
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of PARVA mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of PARVA mRNA	25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of PARVA mRNA	26079696
C584509	C646 compound	C646 compound results in increased expression of PARVA mRNA	26191083
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of PARVA mRNA	23650126
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of PARVA mRNA	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of PARVA mRNA	28472532
D002945	Cisplatin	Cisplatin results in increased expression of PARVA mRNA	21151649
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PARVA mRNA	19320972
D003042	Cocaine	Cocaine affects the expression of PARVA mRNA	20187946
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PARVA mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of PARVA mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of PARVA mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of PARVA mRNA	26577399
D004041	Dietary Fats	Dietary Fats results in increased expression of PARVA mRNA	19030233; 25016146;
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of PARVA mRNA	31163220
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of PARVA mRNA	29581250
D004237	Diuron	Diuron results in increased expression of PARVA mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 PARVA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PARVA mRNA	27188386
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 PARVA mRNA	27188386
D013759	Dronabinol	Dronabinol affects the methylation of PARVA gene	26044905
D004726	Endosulfan	Endosulfan results in decreased expression of PARVA mRNA	29391264
C118739	entinostat	entinostat results in decreased expression of PARVA mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 PARVA mRNA	27188386
D004958	Estradiol	Estradiol results in decreased expression of PARVA mRNA	19167446
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of PARVA mRNA	26496021
D000431	Ethanol	Ethanol affects the splicing of PARVA mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of PARVA mRNA	28973697
D005485	Flutamide	Flutamide results in decreased expression of PARVA mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of PARVA mRNA	20938992
D019833	Genistein	Genistein results in decreased expression of PARVA mRNA	22228119
C492448	ICG 001	ICG 001 results in increased expression of PARVA mRNA	26191083
D008694	Methamphetamine	Methamphetamine affects the expression of PARVA mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of PARVA mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PARVA mRNA	28001369
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of PARVA protein	21135415
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog affects the expression of PARVA mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PARVA mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of PARVA mRNA	25583101
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of PARVA mRNA	25729387
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of PARVA mRNA	25510870
D010656	Phenylephrine	Phenylephrine affects the localization of PARVA protein	16170337
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PARVA mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of PARVA mRNA	26272509
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PARVA mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of PARVA mRNA	23018184
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of PARVA mRNA	27029645
C009277	sodium arsenate	sodium arsenate results in increased expression of PARVA mRNA	30953684
C017947	sodium arsenite	sodium arsenite results in increased stability of PARVA mRNA	25493608
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of PARVA mRNA	27862939
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PARVA mRNA	31299295
D013739	Testosterone	Testosterone results in decreased expression of PARVA mRNA	21669218
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PARVA mRNA	21570461; 24680724;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PARVA mRNA	18796159
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PARVA mRNA	28111298
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of PARVA mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of PARVA mRNA	23724009
D000077288	Troglitazone	Troglitazone results in decreased expression of PARVA mRNA	28973697
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 PARVA mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PARVA mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PARVA mRNA	24935251; 26272509; 28001369; 29154799;
C025643	vinclozolin	vinclozolin affects the expression of PARVA mRNA	19015723
C025643	vinclozolin	vinclozolin results in increased expression of PARVA mRNA	23034163
D014810	Vitamin E	Vitamin E results in decreased expression of PARVA mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0009	Actin-binding
KW-0025	Alternative splicing
KW-0037	Angiogenesis
KW-0130	Cell adhesion
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0133	Cell shape
KW-0145	Chemotaxis
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0903	Direct protein sequencing
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat

Interpro

InterPro ID	InterPro Term
IPR001715	CH-domain
IPR036872	CH_dom_sf
IPR028433	Parvin

PROSITE

PROSITE ID	PROSITE Term
PS50021	CH

Pfam

Pfam ID	Pfam Term
PF00307	CH

Gene: PARVA

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

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

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