1. Gene
  2. ITGA7 - integrin subunit alpha 7 Gene

ITGA7 - integrin subunit alpha 7 Gene

Homo sapiens
Gene ID: 3679 | Gene type: protein coding

About ITGA7

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:55,684,568-55,716,400 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
22779914 GOA
Biological Process GO Annotation Evidence Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITGA7 Protein Structure

FG-GAP

FG-GAP: FG-GAP repeat (364 - 402)

FG-GAP

FG-GAP: FG-GAP repeat (425 - 458)

Integrin_alpha2

Integrin_alpha2: Integrin alpha (515 - 1006)

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  • 1181 a.a.
Protein Preferred Names Protein Names

integrin alpha-7

integrin alpha 7 chain

Related Diseases

Diseases Alias
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy, Congenital, Due To Itga7 Deficiency

Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy With Itga7 Deficiency

Congenital Myopathy Due To Integrin Alpha-7 Deficiency

Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency

MDCI

Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy

Fcmd

MDDGA4

Fukuyama Type Congenital Muscular Dystrophy

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

Cerebromuscular Dystrophy, Fukuyama Type

Fukuyama Cmd

Fukuyama Muscular Dystrophy

Fukuyama Syndrome

Muscular Dystrophy, Congenital Progressive, With Mental Retardation

Muscular Dystrophy, Congenital, Fukuyama Type

Muscular Dystrophy, Congenital, With Central Nervous System Involvement

Polymicrogyria With Muscular Dystrophy

Congenital Muscular Dystrophy, Fukuyama Type

Fktn-Related Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

Cerebromuscular Dystrophy Fukuyama Type

Congenital Muscular Dystrophy Fukuyama Type

Micropolygyria With Muscular Dystrophy

Muscle-Eye-Brain Disease Fktn-Related

Walker-Warburg Syndrome Fktn-Related

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A

Lama2-Related Muscular Dystrophy

Atrophie Blanche

Muscular Dystrophy, Congenital Merosin-Deficient

Congenital Merosin-Deficient Muscular Dystrophy 1a

Merosin-Negative Congenital Muscular Dystrophy

Muscular Dystrophy White Matter Spongiosis

Merosin Deficient Congenital Muscular Dystrophy

Muscular Dystrophy Congenital, Merosin Negative

Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

Cmd1a

Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

Congenital Muscular Dystrophy Type 1a

Laminin Alpha-2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital, Merosin-Deficient

Lama2 Md

Laminin Alpha 2 Deficiency

Laminin Alpha-2 Deficient Muscular Dystrophy

Merosin-Deficient Muscular Dystrophy

Muscular Dystrophy Due To Lama2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy 1a

Cardiomyopathy, Familial Idiopathic

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Muscular Dystrophy, Congenital, 1b

MDC1B

Congenital Muscular Dystrophy 1b

Cmd1b

Congenital Muscular Dystrophy Type 1b

Familial Dilated Cardiomyopathy

Inflammatory Leiomyosarcoma
Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Bethlem Myopathy 1

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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
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