ITGA7 - integrin subunit alpha 7 Gene
Species: Homo sapiens
About ITGA7
This gene has 27 transcripts (splice variants), 218 orthologues, 17 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 86.9), heart (RPKM 53.0) and 9 other tissues.
Summary
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]
ITGA7 Products (14)
| mRNA | Protein | Name |
|---|---|---|
| NM_001144996.2 | NP_001138468.1 | integrin alpha-7 isoform 1 precursor |
| NM_001144997.2 | NP_001138469.1 | integrin alpha-7 isoform 3 |
| NM_001367993.1 | NP_001354922.1 | integrin alpha-7 isoform 4 |
| NM_001367994.1 | NP_001354923.1 | integrin alpha-7 isoform 5 |
| NM_001374465.1 | NP_001361394.1 | integrin alpha-7 isoform 6 |
| NM_001410977.1 | NP_001397906.1 | integrin alpha-7 isoform 7 precursor |
| NM_001414029.1 | NP_001400958.1 | integrin alpha-7 isoform 8 |
| NM_001414030.1 | NP_001400959.1 | integrin alpha-7 isoform 9 |
| NM_001414031.1 | NP_001400960.1 | integrin alpha-7 isoform 10 |
| NM_001414032.1 | NP_001400961.1 | integrin alpha-7 isoform 11 |
| NM_001414033.1 | NP_001400962.1 | integrin alpha-7 isoform 12 |
| NM_001414034.1 | NP_001400963.1 | integrin alpha-7 isoform 13 |
| NM_001414035.1 | NP_001400964.1 | integrin alpha-7 isoform 14 |
| NM_002206.3 | NP_002197.2 | integrin alpha-7 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22779914 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in endodermal cell differentiation |
IEP
IEP: Inferred from expression pattern
|
23154389 | GOA |
| involved in heterotypic cell-cell adhesion |
IMP
IMP: Inferred from mutant phenotype
|
20563599 | GOA |
ITGA7 Protein Structure
FG-GAP: FG-GAP repeat (364 - 402)
FG-GAP: FG-GAP repeat (425 - 458)
Integrin_alpha2: Integrin alpha (515 - 1006)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1181 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
integrin alpha-7 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
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| Congenital Fiber-Type Disproportion |
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| Myopathy |
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| Muscular Dystrophy |
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| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
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| Batten-Turner Congenital Myopathy |
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| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
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| Muscular Dystrophy, Congenital, Lmna-Related |
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| Muscular Dystrophy, Congenital, 1b |
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| Inflammatory Leiomyosarcoma |
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| Muscular Dystrophy, Duchenne Type |
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| Arrhythmogenic Right Ventricular Cardiomyopathy |
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| Bethlem Myopathy 1 |
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| Ullrich Congenital Muscular Dystrophy 1 |
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| Walker-Warburg Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | ITGA7 | VGNC | VGNC:67845 |
| Mus musculus | ITGA7 | MGD | MGI:102700 |
| Rattus norvegicus | ITGA7 | RGD | RGD:71022 |
| Canis familiaris | ITGA7 | VGNC | VGNC:42129 |
| Bos taurus | ITGA7 | VGNC | VGNC:56212 |
| Macaca mulatta | ITGA7 | VGNC | VGNC:73781 |
| Others | ITGA7 | NCBI |