ITGA7 Chromosome 12
Integrin subunit alpha 7
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What This Gene Does
The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Integrin alpha subunits
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000135424
Associated Conditions (19)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
Colon adenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
ITGA7-related disorder
Clear cell carcinoma of kidney
Colorectal cancer
Cervical cancer
Sarcoma
Adrenocortical carcinoma
hereditary
Familial cancer of breast
Thymoma
Thyroid cancer
nonmedullary
1
Melanoma
Nonpapillary renal cell carcinoma
Abnormal brain morphology
Key Variants
RS140030984
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, Colon adenocarcinoma, Uterine carcinosarcoma
Health Risk
RS142311782
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS143749139
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS144983062
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Clear cell carcinoma of kidney
Health Risk
RS145463677
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS145740314
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS146565340
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS148641361
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS149028067
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS149081471
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS149403824
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
RS149963176
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140030984 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Colon adenocarcinoma, Uterine carcinosarcoma |
| RS142311782 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS143749139 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS144983062 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Clear cell carcinoma of kidney |
| RS145463677 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS145740314 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS146565340 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS148641361 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS149028067 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS149081471 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS149403824 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS149963176 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS181711509 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS200390529 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS200402328 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS200586885 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS200714716 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS201469044 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS370001763 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS371922720 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS374707420 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS377510220 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS3847675 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Thyroid cancer, nonmedullary |
| RS754655315 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS760407686 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS761067098 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS773004449 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS775801045 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS777049999 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS779666592 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS879008268 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1060499775 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1217190017 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1324740221 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1348062671 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS148136365 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1565622052 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1592496317 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1872244528 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1873861004 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS2136025217 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS2136045991 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS2136072590 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS2136102011 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS2136102892 | Health Risk | Likely pathogenic | — |
| RS375897994 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS549230992 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS767943997 | Health Risk | Likely pathogenic | — |
| RS1040633055 | Health Risk | Pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| RS1159266550 | Health Risk | Pathogenic | Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency |