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Aliases for ITGA7 Gene

Aliases for ITGA7 Gene

  • Integrin Subunit Alpha 7 2 3 5
  • Integrin, Alpha 7 2

External Ids for ITGA7 Gene

Previous GeneCards Identifiers for ITGA7 Gene

  • GC12M056002
  • GC12M056151
  • GC12M055795
  • GC12M054364
  • GC12M056078
  • GC12M053117

Summaries for ITGA7 Gene

Entrez Gene Summary for ITGA7 Gene

  • 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]

GeneCards Summary for ITGA7 Gene

ITGA7 (Integrin Subunit Alpha 7) is a Protein Coding gene. Diseases associated with ITGA7 include Muscular Dystrophy, Congenital, Due To Itga7 Deficiency and Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. GO annotations related to this gene include protein heterodimerization activity and cell adhesion molecule binding. An important paralog of this gene is ITGA8.

UniProtKB/Swiss-Prot for ITGA7 Gene

  • Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.

Gene Wiki entry for ITGA7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA7 Gene

Genomics for ITGA7 Gene

Regulatory Elements for ITGA7 Gene

Enhancers for ITGA7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITGA7 on UCSC Golden Path with GeneCards custom track

Promoters for ITGA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITGA7 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGA7 Gene

Chromosome:
12
Start:
55,684,568 bp from pter
End:
55,716,043 bp from pter
Size:
31,476 bases
Orientation:
Minus strand

Genomic View for ITGA7 Gene

Genes around ITGA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA7 Gene

Proteins for ITGA7 Gene

  • Protein details for ITGA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13683-ITA7_HUMAN
    Recommended name:
    Integrin alpha-7
    Protein Accession:
    Q13683
    Secondary Accessions:
    • B4E3U0
    • C9JMD3
    • C9JMZ6
    • O43197
    • Q86W93
    • Q9NY89
    • Q9UET0
    • Q9UEV2

    Protein attributes for ITGA7 Gene

    Size:
    1181 amino acids
    Molecular mass:
    128948 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-7 associates with beta-1. Interacts with COMP (By similarity). Interacts (via C-terminus intracellular tail region) with CIB1; the interaction is stabilized/increased in a calcium- and magnesium-dependent manner.

    Alternative splice isoforms for ITGA7 Gene

neXtProt entry for ITGA7 Gene

Proteomics data for ITGA7 Gene at MOPED

Post-translational modifications for ITGA7 Gene

  • A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the cleaved form enhances cell adhesion and spreading on laminin.
  • ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.
  • Ubiquitination at Lys 1126
  • Glycosylation at Asn 86, Asn 786, Asn 989, Asn 1025, and Asn 1045
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ITGA7 (Integrin alpha 7)
  • Abcam antibodies for ITGA7

No data available for DME Specific Peptides for ITGA7 Gene

Domains & Families for ITGA7 Gene

Gene Families for ITGA7 Gene

Suggested Antigen Peptide Sequences for ITGA7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13683

UniProtKB/Swiss-Prot:

ITA7_HUMAN :
  • Belongs to the integrin alpha chain family.
  • Contains 7 FG-GAP repeats.
Family:
  • Belongs to the integrin alpha chain family.
Similarity:
  • Contains 7 FG-GAP repeats.
genes like me logo Genes that share domains with ITGA7: view

Function for ITGA7 Gene

Molecular function for ITGA7 Gene

GENATLAS Biochemistry:
integrin,alpha 7, cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,developmentally regulated during the formation of skeletal muscle cell ,sarcolemmal protein,dimerizing with ITGB1 in laminin receptor
UniProtKB/Swiss-Prot Function:
Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.
genes like me logo Genes that share phenotypes with ITGA7: view

Human Phenotype Ontology for ITGA7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGA7 Gene

MGI Knock Outs for ITGA7:

Animal Model Products

miRNA for ITGA7 Gene

miRTarBase miRNAs that target ITGA7

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ITGA7 Gene

Localization for ITGA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA7 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGA7 Gene COMPARTMENTS Subcellular localization image for ITGA7 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ITGA7 Gene

Pathways & Interactions for ITGA7 Gene

genes like me logo Genes that share pathways with ITGA7: view

Gene Ontology (GO) - Biological Process for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 9354797
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0008360 regulation of cell shape IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0034113 heterotypic cell-cell adhesion IMP 20563599
genes like me logo Genes that share ontologies with ITGA7: view

No data available for SIGNOR curated interactions for ITGA7 Gene

Drugs & Compounds for ITGA7 Gene

(1) Drugs for ITGA7 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
RGD (Arg-Gly-Asp) Peptides Pharma Inhibits integrin binding to RGD motifs 0

(1) Additional Compounds for ITGA7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ITGA7 Gene

Compound Action Cas Number
RGD (Arg-Gly-Asp) Peptides Inhibits integrin binding to RGD motifs 99896-85-2
genes like me logo Genes that share compounds with ITGA7: view

Transcripts for ITGA7 Gene

Unigene Clusters for ITGA7 Gene

Integrin, alpha 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:

ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ITGA7 Gene

GeneLoc Exon Structure for
ITGA7
ECgene alternative splicing isoforms for
ITGA7

Expression for ITGA7 Gene

mRNA expression in normal human tissues for ITGA7 Gene

mRNA differential expression in normal tissues according to GTEx for ITGA7 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.6).

Protein differential expression in normal tissues from HIPED for ITGA7 Gene

This gene is overexpressed in Adipocyte (11.6), Nasopharynx (11.1), and Prostate (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITGA7 Gene



SOURCE GeneReport for Unigene cluster for ITGA7 Gene Hs.524484

mRNA Expression by UniProt/SwissProt for ITGA7 Gene

Q13683-ITA7_HUMAN
Tissue specificity: Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine, colon, ovary and prostate and weakly in lung and testes. Isoforms containing segment X2D are expressed at low levels in fetal and adult skeletal muscle and in cardiac muscle, but are not detected in myoblasts and myotubes. In muscle fibers isoforms containing segment A and B are expressed at myotendinous and neuromuscular junctions; isoforms containing segment C are expressed at neuromuscular junctions and at extrasynaptic sites. Isoforms containing segments X1 or X2 or, at low levels, X1X2 are expressed in fetal and adult skeletal muscle (myoblasts and myotubes) and cardiac muscle.
genes like me logo Genes that share expression patterns with ITGA7: view

Protein tissue co-expression partners for ITGA7 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ITGA7 Gene

Orthologs for ITGA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITGA7 35
  • 87.44 (n)
  • 89.57 (a)
ITGA7 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGA7 35
  • 89.56 (n)
  • 92.35 (a)
ITGA7 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itga7 35
  • 86.17 (n)
  • 88.6 (a)
Itga7 16
Itga7 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITGA7 35
  • 99.56 (n)
  • 99.65 (a)
ITGA7 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itga7 35
  • 86.02 (n)
  • 88.12 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA7 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGA7 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga7 35
  • 61.94 (n)
  • 59.51 (a)
Str.9614 35
zebrafish
(Danio rerio)
Actinopterygii itga7 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alphaPS5 37
  • 31 (a)
mew 37
  • 29 (a)
scb 37
  • 26 (a)
mew 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ina-1 37
  • 26 (a)
ina-1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
CSA.6547 36
  • 32 (a)
ManyToMany
Species with no ortholog for ITGA7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGA7 Gene

ENSEMBL:
Gene Tree for ITGA7 (if available)
TreeFam:
Gene Tree for ITGA7 (if available)

Paralogs for ITGA7 Gene

genes like me logo Genes that share paralogs with ITGA7: view

Variants for ITGA7 Gene

Sequence variations from dbSNP and Humsavar for ITGA7 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1800974 - 55,695,573(-) GGTCC(A/G)CGCCC reference, missense
rs17857367 - 55,697,982(+) GTAGA(C/T)GAAGA reference, missense
rs17854599 - 55,697,720(+) AGCCA(G/T)GGAGC reference, missense
rs17854598 - 55,697,011(+) TCACA(C/T)GGGGA reference, missense
rs17855684 - 55,695,570(+) AGCGG(A/G)CGCGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITGA7 Gene

Variant ID Type Subtype PubMed ID
nsv525231 CNV Loss 19592680
nsv832423 CNV Gain 17160897
nsv469410 CNV Loss 19166990

Variation tolerance for ITGA7 Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGA7 Gene

Human Gene Mutation Database (HGMD)
ITGA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA7 Gene

Disorders for ITGA7 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ITGA7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, congenital, due to itga7 deficiency
  • muscular dystrophy congenital due to integrin alpha-7 deficiency
congenital muscular dystrophy with integrin alpha-7 deficiency
  • muscular dystrophy, congenital, due to itga7 deficiency
congenital fiber-type disproportion
  • cftdm
congenital myopathy
  • myotonia congenita
muscular dystrophy, congenital
  • congenital muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search ITGA7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITA7_HUMAN
  • Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI) [MIM:613204]: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269 PubMed:9590299}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ITGA7 Gene

congenital myopathy with delayed motor milestones

Relevant External Links for ITGA7

Genetic Association Database (GAD)
ITGA7
Human Genome Epidemiology (HuGE) Navigator
ITGA7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGA7
genes like me logo Genes that share disorders with ITGA7: view

Publications for ITGA7 Gene

  1. Mutations in the integrin alpha7 gene cause congenital myopathy. (PMID: 9590299) Hayashi Y.K. … Arahata K. (Nat. Genet. 1998) 3 4 23 67
  2. Interaction of integrin-linked kinase and miniature chromosome maintenance 7-mediating integrin {alpha}7 induced cell growth suppression. (PMID: 20460506) Han Y.C. … Luo J.H. (Cancer Res. 2010) 3 23
  3. Analysis of integrin alpha7 mutations in prostate cancer, liver cancer, glioblastoma multiforme, and leiomyosarcoma. (PMID: 17551147) Ren B. … Luo J.H. (J. Natl. Cancer Inst. 2007) 3 23
  4. Distinct acidic clusters and hydrophobic residues in the alternative splice domains X1 and X2 of alpha7 integrins define specificity for laminin isoforms. (PMID: 17618648) von der Mark H. … von der Mark K. (J. Mol. Biol. 2007) 3 23
  5. alpha7 integrin expressing human fetal myogenic progenitors have stem cell-like properties and are capable of osteogenic differentiation. (PMID: 17054947) Ozeki N. … Kramer R.H. (Exp. Cell Res. 2006) 3 23

Products for ITGA7 Gene

Sources for ITGA7 Gene

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