Insulin Receptor Substrate 1

Alternative Names

  • IRS1
  • Coronary Artery Disease, Susceptibility to

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

147545

NCBI Gene ID

3667

Uniprot ID

P35568

Length

68,509 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Insulin receptor substrate 1

Molecular Mass

131591 Da

Amino Acid Count

1242

Genomic Location

chr2:226,731,312-226,799,820

Gene Map Locus
2q36.3

Description

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005544.3:c.2843C>TUnited Arab EmiratesNC_000002.12:g.226795896G>ARisk factorType 2 Diabetes MellitusNG_015830.1:g.7895C>T; NM_005544.3:c.2843C>T; NP_005535.1:p.Pro948Leu370373307
NM_005544.3:c.3661C>TUnited Arab EmiratesNC_000002.12:g.226795078G>ARisk factorType 2 Diabetes MellitusNG_015830.1:g.8713C>T; NM_005544.3:c.3661C>T; NP_005535.1:p.Arg1221Cys754239320
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