CleftGeneDB-Search

Tag	Content
Uniprot ID	A0A0C4DGZ4
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000484179
Ensembl nucleotide ID	ENSG00000125629
Gene name	Insulin-induced gene protein
Gene symbol	INSIG2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Mediates feedback control of cholesterol synthesis.
Sequence	MAEGETESPG PKKCGPYISS VTSQSVNLMI RGVVLFFIGV FLALVLNLLQ IQRNVTLFPP 60 DVIASIFSSA WWVPPCCGTA SAVIGLLYPC IDRHLGEPHK FKREWSSVMR CVAVFVGINH 120 ASAKVDFDNN IQLSLTLAAL SIGLWWTFDR SRSGFGLGVG IAFLATVVTQ LLVYNGVYQY 180 TSPDFLYVRS WLPCIFFAGG ITMGNIGRQL AMYECKVIAE NLIRNEEGKK YLLYRKAR 238

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	INSIG2	100861144	G1DGF2		Capra hircus	Prediction	More>>
1:1 ortholog	INSIG2	100049957	F6V608		Equus caballus	Prediction	More>>
1:1 ortholog	INSIG2		A0A0C4DGZ4		Homo sapiens	Prediction	More>>
1:1 ortholog	Insig2	72999	Q91WG1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	INSIG2	743385	H2QIL8		Pan troglodytes	Prediction	More>>
1:1 ortholog	INSIG2	100170127	Q6PQZ3		Sus scrofa	Prediction	More>>
1:1 ortholog	INSIG2	100355934	G1SNI6		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Insig2	288985	Q80UA9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	insig2	399645	Q8AV60		Danio rerio	Prediction	More>>

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs137964264	p.Ala2Thr	missense variant	-	NC_000002.12:g.118096560G>A	ESP,ExAC,TOPMed,gnomAD
rs1471756237	p.Ser8Pro	missense variant	-	NC_000002.12:g.118096578T>C	gnomAD
rs767939848	p.Pro9Arg	missense variant	-	NC_000002.12:g.118096582C>G	ExAC,TOPMed,gnomAD
rs776015789	p.Gly10Arg	missense variant	-	NC_000002.12:g.118096584G>A	ExAC,gnomAD
rs1294070723	p.Lys13Arg	missense variant	-	NC_000002.12:g.118096594A>G	TOPMed
rs370685389	p.Cys14Ser	missense variant	-	NC_000002.12:g.118096596T>A	ESP,ExAC,TOPMed,gnomAD
rs1313701209	p.Tyr17Cys	missense variant	-	NC_000002.12:g.118096606A>G	gnomAD
rs913313376	p.Ile18Val	missense variant	-	NC_000002.12:g.118096608A>G	gnomAD
rs1280651218	p.Ser20Pro	missense variant	-	NC_000002.12:g.118096614T>C	gnomAD
rs765960423	p.Ser20Phe	missense variant	-	NC_000002.12:g.118096615C>T	ExAC,gnomAD
rs1422770618	p.Ser23Cys	missense variant	-	NC_000002.12:g.118096623A>T	TOPMed,gnomAD
rs922095354	p.Gln24Arg	missense variant	-	NC_000002.12:g.118096627A>G	-
rs1203328944	p.Ile30Val	missense variant	-	NC_000002.12:g.118096644A>G	gnomAD
rs781017559	p.Val34Met	missense variant	-	NC_000002.12:g.118096656G>A	ExAC,TOPMed,gnomAD
rs748170040	p.Ile38Thr	missense variant	-	NC_000002.12:g.118096669T>C	ExAC
rs765415653	p.Val40Leu	missense variant	-	NC_000002.12:g.118096674G>T	TOPMed
rs1183820435	p.Leu42Ile	missense variant	-	NC_000002.12:g.118096680C>A	TOPMed,gnomAD
rs756111660	p.Leu44Phe	missense variant	-	NC_000002.12:g.118096688A>C	ExAC,gnomAD
rs150499979	p.Ile51Val	missense variant	-	NC_000002.12:g.118096707A>G	ESP,ExAC,TOPMed,gnomAD
rs749320625	p.Thr56Met	missense variant	-	NC_000002.12:g.118096723C>T	ExAC,TOPMed,gnomAD
rs746239528	p.Pro60Ser	missense variant	-	NC_000002.12:g.118096734C>T	ExAC,gnomAD
rs775687117	p.Ser65Gly	missense variant	-	NC_000002.12:g.118096749A>G	ExAC,gnomAD
rs1223089450	p.Ile66Thr	missense variant	-	NC_000002.12:g.118096753T>C	gnomAD
rs761312280	p.Ile66Val	missense variant	-	NC_000002.12:g.118096752A>G	ExAC,gnomAD
rs1369815922	p.Val73Ala	missense variant	-	NC_000002.12:g.118096774T>C	gnomAD
rs764572574	p.Pro74Leu	missense variant	-	NC_000002.12:g.118096777C>T	ExAC,TOPMed,gnomAD
rs568055123	p.Cys77Tyr	missense variant	-	NC_000002.12:g.118096786G>A	gnomAD
rs745585272	p.Thr79Met	missense variant	-	NC_000002.12:g.118096792C>T	ExAC,TOPMed,gnomAD
rs184611175	p.Val83Leu	missense variant	-	NC_000002.12:g.118103199G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs184611175	p.Val83Leu	missense variant	-	NC_000002.12:g.118103199G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1277584797	p.Ile91Met	missense variant	-	NC_000002.12:g.118103225T>G	TOPMed
rs770464107	p.His94Leu	missense variant	-	NC_000002.12:g.118103233A>T	ExAC,gnomAD
rs770464107	p.His94Arg	missense variant	-	NC_000002.12:g.118103233A>G	ExAC,gnomAD
rs1295168236	p.Leu95Ile	missense variant	-	NC_000002.12:g.118103235C>A	gnomAD
rs773707343	p.Glu97Gln	missense variant	-	NC_000002.12:g.118103241G>C	ExAC,gnomAD
rs1248242660	p.His99Asn	missense variant	-	NC_000002.12:g.118103247C>A	gnomAD
rs750935813	p.Arg110Trp	missense variant	-	NC_000002.12:g.118103280C>T	TOPMed,gnomAD
rs752553205	p.Cys111Arg	missense variant	-	NC_000002.12:g.118103283T>C	ExAC,gnomAD
rs1457764901	p.Val112Ile	missense variant	-	NC_000002.12:g.118103286G>A	TOPMed
rs1486743095	p.Phe115Val	missense variant	-	NC_000002.12:g.118103295T>G	gnomAD
rs1463244563	p.Lys124Arg	missense variant	-	NC_000002.12:g.118106738A>G	TOPMed,gnomAD
rs765017477	p.Val125Leu	missense variant	-	NC_000002.12:g.118106740G>C	ExAC,gnomAD
rs765017477	p.Val125Met	missense variant	-	NC_000002.12:g.118106740G>A	ExAC,gnomAD
rs1410116887	p.Asp128Gly	missense variant	-	NC_000002.12:g.118106750A>G	TOPMed
rs758358013	p.Asp128Asn	missense variant	-	NC_000002.12:g.118106749G>A	ExAC,TOPMed,gnomAD
rs368860816	p.Asn129Ser	missense variant	-	NC_000002.12:g.118106753A>G	ESP,TOPMed
rs766653153	p.Asn130Asp	missense variant	-	NC_000002.12:g.118106755A>G	ExAC,gnomAD
rs1369555575	p.Ile131Thr	missense variant	-	NC_000002.12:g.118106759T>C	TOPMed
rs751817363	p.Ile131Leu	missense variant	-	NC_000002.12:g.118106758A>T	ExAC,gnomAD
rs1158793570	p.Gln132Arg	missense variant	-	NC_000002.12:g.118106762A>G	gnomAD
rs1410272516	p.Leu133Phe	missense variant	-	NC_000002.12:g.118106766G>T	gnomAD
rs1378159915	p.Leu137Gln	missense variant	-	NC_000002.12:g.118106777T>A	TOPMed
rs781590512	p.Ile142Thr	missense variant	-	NC_000002.12:g.118106792T>C	ExAC,gnomAD
rs1224310333	p.Trp146Ter	stop gained	-	NC_000002.12:g.118106804G>A	gnomAD
rs756662128	p.Arg150Ser	missense variant	-	NC_000002.12:g.118106817A>C	ExAC,gnomAD
rs771525021	p.Leu157Ile	missense variant	-	NC_000002.12:g.118106836C>A	ExAC,TOPMed,gnomAD
rs1234150197	p.Phe163Leu	missense variant	-	NC_000002.12:g.118106854T>C	gnomAD
rs746718152	p.Thr166Ile	missense variant	-	NC_000002.12:g.118106864C>T	ExAC,TOPMed,gnomAD
rs768419362	p.Val167Met	missense variant	-	NC_000002.12:g.118106866G>A	ExAC,gnomAD
rs776572259	p.Val168Phe	missense variant	-	NC_000002.12:g.118106869G>T	ExAC,TOPMed,gnomAD
rs776572259	p.Val168Ile	missense variant	-	NC_000002.12:g.118106869G>A	ExAC,TOPMed,gnomAD
rs765241048	p.Thr169Ile	missense variant	-	NC_000002.12:g.118106873C>T	ExAC,TOPMed,gnomAD
rs1310945245	p.Tyr174Cys	missense variant	-	NC_000002.12:g.118106888A>G	TOPMed
rs766415130	p.Gly176Asp	missense variant	-	NC_000002.12:g.118106894G>A	ExAC,gnomAD
rs759566515	p.Ser182Thr	missense variant	-	NC_000002.12:g.118107097T>A	ExAC,TOPMed,gnomAD
rs752958767	p.Tyr187Cys	missense variant	-	NC_000002.12:g.118107113A>G	ExAC,gnomAD
rs963738936	p.Arg189His	missense variant	-	NC_000002.12:g.118107119G>A	TOPMed
rs760931206	p.Arg189Gly	missense variant	-	NC_000002.12:g.118107118C>G	ExAC,gnomAD
rs760931206	p.Arg189Cys	missense variant	-	NC_000002.12:g.118107118C>T	ExAC,gnomAD
rs1362182528	p.Ser190Pro	missense variant	-	NC_000002.12:g.118107121T>C	gnomAD
rs1223949239	p.Ile195Leu	missense variant	-	NC_000002.12:g.118107136A>T	TOPMed,gnomAD
rs1223949239	p.Ile195Val	missense variant	-	NC_000002.12:g.118107136A>G	TOPMed,gnomAD
rs1297313892	p.Phe196Cys	missense variant	-	NC_000002.12:g.118107140T>G	gnomAD
rs764425108	p.Gly199Ter	stop gained	-	NC_000002.12:g.118107148G>T	ExAC,gnomAD
rs1242930218	p.Ile201Thr	missense variant	-	NC_000002.12:g.118107155T>C	gnomAD
rs577648785	p.Ile201Val	missense variant	-	NC_000002.12:g.118107154A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1242380708	p.Met203Thr	missense variant	-	NC_000002.12:g.118107161T>C	TOPMed
rs151242514	p.Met203Val	missense variant	-	NC_000002.12:g.118107160A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1387209691	p.Ile206Thr	missense variant	-	NC_000002.12:g.118107170T>C	gnomAD
rs1163800913	p.Arg208Gln	missense variant	-	NC_000002.12:g.118107176G>A	gnomAD
rs751135931	p.Arg208Ter	stop gained	-	NC_000002.12:g.118107175C>T	ExAC,gnomAD
rs141338315	p.Ala211Glu	missense variant	-	NC_000002.12:g.118107185C>A	ESP,ExAC,TOPMed,gnomAD
rs1320109511	p.Ala211Thr	missense variant	-	NC_000002.12:g.118107184G>A	gnomAD
rs747802502	p.Met212Val	missense variant	-	NC_000002.12:g.118107187A>G	ExAC,TOPMed,gnomAD
rs1317932981	p.Met212Thr	missense variant	-	NC_000002.12:g.118107188T>C	TOPMed,gnomAD
rs1440606245	p.Tyr213His	missense variant	-	NC_000002.12:g.118108281T>C	gnomAD
rs1252225280	p.Glu214Lys	missense variant	-	NC_000002.12:g.118108284G>A	gnomAD
rs780904693	p.Cys215Ter	stop gained	-	NC_000002.12:g.118108289T>A	ExAC,gnomAD
rs1302156745	p.Lys216Thr	missense variant	-	NC_000002.12:g.118108291A>C	TOPMed
rs144954380	p.Ile218Phe	missense variant	-	NC_000002.12:g.118108296A>T	ESP,ExAC,TOPMed,gnomAD
rs76427425	p.Ala219Thr	missense variant	-	NC_000002.12:g.118108299G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs76427425	p.Ala219Ser	missense variant	-	NC_000002.12:g.118108299G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs538623329	p.Asn221Ser	missense variant	-	NC_000002.12:g.118108307A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1412088853	p.Arg224Gly	missense variant	-	NC_000002.12:g.118108315A>G	gnomAD
rs143040544	p.Glu226Asp	missense variant	-	NC_000002.12:g.118108323A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771994823	p.Lys230Arg	missense variant	-	NC_000002.12:g.118108334A>G	ExAC,gnomAD
rs1285658895	p.Tyr231Phe	missense variant	-	NC_000002.12:g.118108337A>T	gnomAD
rs747054304	p.Leu232Pro	missense variant	-	NC_000002.12:g.118108340T>C	ExAC
rs1197415815	p.Arg238Ser	missense variant	-	NC_000002.12:g.118108359A>C	gnomAD
rs768782150	p.Ter239Arg	stop lost	-	NC_000002.12:g.118108360T>C	ExAC,TOPMed,gnomAD

Keyword ID	Keyword Term
KW-0153	Cholesterol metabolism
KW-0256	Endoplasmic reticulum
KW-0443	Lipid metabolism
KW-0472	Membrane
KW-1267	Proteomics identification
KW-1185	Reference proteome
KW-0753	Steroid metabolism
KW-1207	Sterol metabolism
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Gene: INSIG2

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