Gene: Insig2

Basic information

Tag Content
Uniprot ID Q91WG1; Q3TMY2; Q8BWP1;
Entrez ID 72999
Genbank protein ID BAC34233.1; AAH23874.1; AAH24411.1; BAE32667.1; BAE30928.1; AAN28332.1; BAE36273.1; BAC30676.1; BAE38307.1; AAH23067.1; AAH15288.1;
Genbank nucleotide ID XM_006529890.3; XM_006529889.1; XM_006529891.3; NM_178082.3; NM_001271531.1; NM_133748.2; XM_006529892.1;
Ensembl protein ID ENSMUSP00000065485; ENSMUSP00000003818; ENSMUSP00000124345; ENSMUSP00000123747;
Ensembl nucleotide ID ENSMUSG00000003721
Gene name Insulin-induced gene 2 protein
Gene symbol Insig2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 16955138
Functional description Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR.
Sequence
MAEGETESPR PKKCGPYISS VTSQSVNVVI RGVVLFFIGV FLALVLNLLQ IQRNVTLFPP 60
DVITSIFSSA WWVPPCCGTA SAVIGLLYPC IDRHLGEPHK FKREWSSVMR CVAVFVGINH 120
ASAKVDFDNN FQFSLTLAAL SVGLWWTFDR SRSGFGLGVG IAFLATVVTQ LLVYNGVYQY 180
TSPDFLYVRS WLPCIFFAGG ITMGNIGRQL AMYECKVIAE KSHQE 225

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.

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 Developmental stage Species Evidence Details
1:1 orthologINSIG2100861144G1DGF2Capra hircusPredictionMore>>
1:1 orthologINSIG2100049957F6V608Equus caballusPredictionMore>>
1:1 orthologINSIG2A0A0C4DGZ4Homo sapiensPredictionMore>>
1:1 orthologInsig272999Q91WG1CPOMus musculusPublicationMore>>
1:1 orthologINSIG2743385H2QIL8Pan troglodytesPredictionMore>>
1:1 orthologINSIG2100170127Q6PQZ3Sus scrofaPredictionMore>>
1:1 orthologINSIG2100355934G1SNI6Oryctolagus cuniculusPredictionMore>>
1:1 orthologInsig2288985Q80UA9Rattus norvegicusPredictionMore>>
1:1 orthologinsig2399645Q8AV60Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0008134 transcription factor bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006641 triglyceride metabolic processIGI
GO:0006695 cholesterol biosynthetic processIGI
GO:0006991 response to sterol depletionIDA
GO:0008203 cholesterol metabolic processIGI
GO:0010894 negative regulation of steroid biosynthetic processIGI
GO:0016126 sterol biosynthetic processIGI
GO:0032868 response to insulinIEA
GO:0032933 SREBP signaling pathwayISO
GO:0042472 inner ear morphogenesisIGI
GO:0042474 middle ear morphogenesisIGI
GO:0045717 negative regulation of fatty acid biosynthetic processIGI
GO:0060021 roof of mouth developmentIGI
GO:0060363 cranial suture morphogenesisIGI
GO:0070542 response to fatty acidIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005783 endoplasmic reticulumISO
GO:0032937 SREBP-SCAP-Insig complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

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

Interpro

InterPro ID InterPro Term
IPR025929 INSIG_fam

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF07281 INSIG

Protein-miRNA interaction