Gene Gene information from NCBI Gene database.
Entrez ID 51141
Gene name Insulin induced gene 2
Gene symbol INSIG2
Synonyms (NCBI Gene)
INSIG-2
Chromosome 2
Chromosome location 2q14.1-q14.2
Summary The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by b
miRNA miRNA information provided by mirtarbase database.
548
miRTarBase ID miRNA Experiments Reference
MIRT017795 hsa-miR-335-5p Microarray 18185580
MIRT019869 hsa-miR-375 Microarray 20215506
MIRT002529 hsa-miR-373-3p Microarray 15685193
MIRT021575 hsa-miR-142-3p Microarray 17612493
MIRT711896 hsa-miR-7851-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12242332, 17428920, 25416956, 32296183
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 32322062
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 32322062
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608660 20452 ENSG00000125629
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5U4
Protein name Insulin-induced gene 2 protein (INSIG-2)
Protein function Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12242332, PubMed:16606821, PubMed:32322062). Acts as a negati
PDB 4J82 , 6M49 , 7ETW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07281 INSIG 30 211 Insulin-induced protein (INSIG) Family
Sequence
Sequence length 225
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 19523229
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 22355322
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 22355322 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19523229
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20955599
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18464289 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Ductal carcinoma Pubtator 21443541 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29514927 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 21443541
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 20920244
★☆☆☆☆
Found in Text Mining only