IRS4 Chromosome X
Insulin receptor substrate 4
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What This Gene Does
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]
Associated Conditions (4)
Hypothyroidism
congenital
nongoitrous
9
Key Variants
RS138870709
Conflicting classifications of pathogenicity
Health Risk
RS2068946379
Conflicting classifications of pathogenicity
Health Risk
RS2148017124
Likely pathogenic
Health Risk
RS760832986
Likely pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
RS1603336347
Pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
RS780982673
Pathogenic/Likely pathogenic
Hypothyroidism, congenital, nongoitrous
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138870709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2068946379 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2148017124 | Health Risk | Likely pathogenic | — |
| RS760832986 | Health Risk | Likely pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS1603336347 | Health Risk | Pathogenic | Hypothyroidism, congenital, nongoitrous |
| RS780982673 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism, congenital, nongoitrous |