1. Gene
  2. IRS4 - insulin receptor substrate 4 Gene

IRS4 - insulin receptor substrate 4 Gene

Homo sapiens

Also known as CHNG9; IRS-4; PY160

Gene ID: 8471 | Gene type: protein coding

About IRS4

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:108,719,946-108,736,563 (from NCBI)

This gene has 2 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 85 phenotypes. Biased expression in ovary (RPKM 3.0), thyroid (RPKM 1.0) and 3 other tissues.

Summary

IRS4 encodes the Insulin Receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the Insulin Receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]

IRS4 Products(2)

mRNA Protein Name
NM_001379150.1 NP_001366079.1 insulin receptor substrate 4 isoform 2
NM_003604.2 NP_003595.1 insulin receptor substrate 4 isoform 1

IRS4 Protein Structure

IRS

IRS: PTB domain (IRS-1 type) (232 - 332)

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  • 1257 a.a.
Protein Preferred Names Protein Names

insulin receptor substrate 4

160 kDa phosphotyrosine protein

Related Diseases

Diseases Alias
Hypothyroidism, Congenital, Nongoitrous, 9

CHNG9

Congenital Nongoitrous Hypothyroidism 9

Hypothyroidism, Congenital, Non-Goitrous, 9

Hypothyroidism, Congenital, Nongoitrous, Type 9

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Hypothyroidism, Central, With Testicular Enlargement

X-Linked Central Congenital Hypothyroidism With Late-Onset Testicular Enlargement

CHTE

Hypothyroidism, Central, And Testicular Enlargement

Igsf1 Deficiency Syndrome

X-Linked Central Congenital Hypothyroidism With Late-Onset Macroorchidism

Central Hypothyroidism And Testicular Enlargement

Hypothyroidism, Central, Testicular Enlargement

Boutonneuse Fever

Mediterranean Spotted Fever

African Tick Typhus

Boutonneuse Disease

Conor And Bruch'S Disease

Kenya Fever

Kenya Tick Typhus

Kenyan Tick Typhus

Marseilles Fever

Mediterranean Tick Fever

Rickettsia Conorii Spotted Fever

South African Tick-Bite Fever

African Tick Bite Fever

Breast Rhabdomyosarcoma

Rhabdomyosarcoma Of The Breast

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus IRS4 MGD MGI:1338009
Bos taurus IRS4 VGNC VGNC:30285
Macaca mulatta IRS4 VGNC VGNC:73767
Felis catus IRS4 VGNC VGNC:67831
Rattus norvegicus IRS4 RGD RGD:1562442
Canis familiaris IRS4 VGNC VGNC:42100