INS
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
INS (HGNC:6081) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
insulin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
IDDM2, IDDM1
Alias symbols
No aliases found
%HI
80.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
11p15.5
Genomic Coordinates
GRCh37/hg19: chr11:2181009-2182439 NCBI Ensembl UCSC
GRCh38/hg38: chr11:2159779-2161209 NCBI Ensembl UCSC
MANE Select Transcript
NM_000207.3 ENST00000381330.5 (Read more about MANE Select)
Function
Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11284
ClinGen Curation ID:
CCID:007329
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Heterozygous missense mutations in INS can lead to permanent neonatal diabetes mellitus (PNDM) other forms of diabetes, but these are thought to cause disease through a dominant-negative mechanism. Loss of function mutations, including deletions, cause PNDM when inherited in a recessive manner (Stoy et al, 2010, PMID: 20938745).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)