Gene: INSIG2

Basic information

Tag Content
Uniprot ID Q6PQZ3; Q5Y8D7;
Entrez ID 100170127
Genbank protein ID AAS99653.2; AAU88197.1;
Genbank nucleotide ID NM_001129968.1
Ensembl protein ID ENSSSCP00005032357; ENSSSCP00030011872; ENSSSCP00025030255; ENSSSCP00070003733; ENSSSCP00065013712; ENSSSCP00060000793; ENSSSCP00000041204; ENSSSCP00070003726; ENSSSCP00070003740; ENSSSCP00070003749; ENSSSCP00040023298; ENSSSCP00055031387; ENSSSCP00050018920;
Ensembl nucleotide ID ENSSSCG00040041867; ENSSSCG00030019225; ENSSSCG00005032684; ENSSSCG00025051296; ENSSSCG00000036229; ENSSSCG00070002417; ENSSSCG00055020111; ENSSSCG00060002044; ENSSSCG00065024855; ENSSSCG00050034307;
Gene name Insulin-induced gene 2 protein
Gene symbol INSIG2
Organism Sus scrofa
NCBI taxa ID 9823
Cleft type
Developmental stage
Data sources Homology search
Reference
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 (By similarity).
Sequence
MAEGETKSPG PKKCGPYISS VTSQSVNLMI RGVVLFFIGV FLALVLNLLQ IQRNVTLFPP 60
DVIASIFSSA WWVPPCCGTA SAVIGLLYPC IDRHLGEPHK FKREWSSVMR CVAVFVGINH 120
ASAKVDFDNN IQLSLTLAAL SIGLWWTFDR SRSGFGLGVG IAFLATLVTQ 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 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>>

Gene ontology

GO ID GO Term
GO:0032937 SREBP-SCAP-Insig complex
GO:0006695 cholesterol biosynthetic process
GO:0060363 cranial suture morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0010894 negative regulation of steroid biosynthetic process
GO:0060021 roof of mouth development
GO:0032933 SREBP signaling pathway
GO:0006641 triglyceride metabolic process

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