ITGA7 Gene (Protein Coding)

Integrin Subunit Alpha 7

GC12M055684
GIFtS:
48
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 recep... See more...

Aliases for ITGA7 Gene

Aliases for ITGA7 Gene

  • Integrin Subunit Alpha 7 2 3 5
  • Integrin Alpha-7 3 4
  • Integrin Alpha 7 Chain 3
  • Integrin, Alpha 7 2
  • ITGA7 5

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 Integrin Alpha-7 Deficiency and Congenital Fiber-Type Disproportion. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and cell adhesion molecule binding. An important paralog of this gene is ITGA6.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ITGA7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGA7 Gene

Genomics for ITGA7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ITGA7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGA7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGA7

Top Transcription factor binding sites by QIAGEN in the ITGA7 gene promoter:
  • C/EBPbeta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for ITGA7 Gene

Latest Assembly
chr12:55,684,568-55,716,043
(GRCh38/hg38)
Size:
31,476 bases
Orientation:
Minus strand

Previous Assembly
chr12:56,078,352-56,106,192
(GRCh37/hg19 by Entrez Gene)
Size:
27,841 bases
Orientation:
Minus strand

chr12:56,078,352-56,109,827
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for ITGA7 Gene

Proteins for ITGA7 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGA7 Gene

Protein Expression for ITGA7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITGA7 Gene

  • ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.
  • 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.
  • Glycosylation at Asn86, Asn786, Asn989, Asn1025, and Asn1045
  • Ubiquitination at Lys1126
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITGA7 Gene

Domains & Families for ITGA7 Gene

Gene Families for ITGA7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ITGA7 Gene

InterPro:
Blocks:
  • Integrins alpha chain
  • Integrin alpha chain, C-terminal cytoplasmic region
  • FG-GAP

Suggested Antigen Peptide Sequences for ITGA7 Gene

GenScript: Design optimal peptide antigens:
  • Integrin alpha-7 (ITA7_HUMAN)
  • Integrin, alpha 7 (Q86W93_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13683

UniProtKB/Swiss-Prot:

ITA7_HUMAN :
  • Belongs to the integrin alpha chain family.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGA7: view

Function for ITGA7 Gene

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  6. Cell Lines for research

Molecular function for ITGA7 Gene

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.
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

Phenotypes From GWAS Catalog for ITGA7 Gene

Gene Ontology (GO) - Molecular Function for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22779914
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ITGA7: view
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 Models for research

miRNA for ITGA7 Gene

miRTarBase miRNAs that target ITGA7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA7

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGA7 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex IEA --
GO:0009986 cell surface IC 20563599
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITGA7: view

Pathways & Interactions for ITGA7 Gene

PathCards logo

SuperPathways for ITGA7 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
Rap1 Pathway
.57
2 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
3 Focal Adhesion
Focal adhesion
.61
Focal Adhesion
.61
Integrin-mediated Cell Adhesion
.38
HGF Pathway
.33
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
CDC42 Pathway
.41
RhoA Pathway
.35
5 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
genes like me logo Genes that share pathways with ITGA7: view

Pathways by source for ITGA7 Gene

1 GeneGo (Thomson Reuters) pathway for ITGA7 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
33 Qiagen pathways for ITGA7 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Akt Signaling
  • Calpain Protease Regulates Cellular Mechanics

SIGNOR curated interactions for ITGA7 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion TAS 9354797
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0007517 muscle organ development TAS 9354797
GO:0008360 regulation of cell shape IEA --
genes like me logo Genes that share ontologies with ITGA7: view

Drugs & Compounds for ITGA7 Gene

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  1. Drug products for research

(2) Drugs for ITGA7 Gene - From: ApexBio and Novoseek

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) 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

Drug products for research

Transcripts for ITGA7 Gene

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mRNA/cDNA for ITGA7 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA7

Clone products for research

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

Expression for ITGA7 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ITGA7 Gene

mRNA expression in normal human tissues for ITGA7 Gene
mRNA expression by BioGPS for ITGA7 GenemRNA expression by GTEx 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 and MOPED for ITGA7 Gene



Protein tissue co-expression partners for ITGA7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGA7

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.

Evidence on tissue expression from TISSUES for ITGA7 Gene

  • Nervous system(4.8)
  • Muscle(4.7)
  • Heart(4.6)
  • Liver(4.3)
  • Bone(4.2)
  • Skin(3)
  • Kidney(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ITGA7: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia ITGA7 29 30
  • 99.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ITGA7 29 30
  • 89.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ITGA7 29 30
  • 87.44 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Itga7 29 16 30
  • 86.17 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Itga7 29
  • 86.02 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ITGA7 30
  • 62 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ITGA7 30
  • 60 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia itga7 29
  • 61.94 (n)
Str.9614 29
Zebrafish
(Danio rerio)
 Actinopterygii itga7 30
  • 54 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta alphaPS5 31
  • 31 (a)
mew 30 31
  • 28 (a)
 OneToMany
scb 31
  • 26 (a)
Worm
(Caenorhabditis elegans)
 Secernentea ina-1 30 31
  • 25 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6547 30
  • 32 (a)
 ManyToMany
-- 30
  • 30 (a)
 ManyToMany
Species where no ortholog for ITGA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITGA7: view image
Alliance of Genome Resources:
Additional Orthologs for ITGA7

Paralogs for ITGA7 Gene

Paralogs for ITGA7 Gene

(6) SIMAP similar genes for ITGA7 Gene using alignment to 11 proteins:

  • ITA7_HUMAN
  • G3V2C6_HUMAN
  • G3V2I4_HUMAN
  • G3V2Q6_HUMAN
  • G3V3L8_HUMAN
  • H0YJ26_HUMAN
  • H0YJ98_HUMAN
  • H0YJS5_HUMAN
  • H2N331_HUMAN
  • H7BYL2_HUMAN
  • J3KNV4_HUMAN
genes like me logo Genes that share paralogs with ITGA7: view

Variants for ITGA7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGA7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1001218 Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 55,697,744(-) A/C
NM_002206.3(ITGA7):c.1360T>G (p.Tyr454Asp) 		MISSENSE
1001861 Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 55,688,257(-) T/A
NM_002206.3(ITGA7):c.3002A>T (p.Asn1001Ile) 		MISSENSE
1004525 Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 55,694,797(-) A/T
NM_002206.3(ITGA7):c.2177T>A (p.Val726Asp) 		MISSENSE
1004963 Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 55,696,930(-) C/T
NM_002206.3(ITGA7):c.1706G>A (p.Arg569Gln) 		MISSENSE
1005128 Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 55,688,276(-) C/T
NM_002206.3(ITGA7):c.2983G>A (p.Glu995Lys) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ITGA7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1136152 CNV deletion 24896259
nsv469410 CNV loss 19166990
nsv477543 CNV novel sequence insertion 20440878
nsv525231 CNV loss 19592680
nsv559004 CNV loss 21841781
nsv832423 CNV gain 17160897
nsv952184 CNV deletion 24416366

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)

Additional Variant Information for ITGA7 Gene

Human Gene Mutation Database (HGMD)
ITGA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGA7
Leiden Open Variation Database (LOVD)
ITGA7

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITGA7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ITGA7 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
muscular dystrophy, congenital, due to integrin alpha-7 deficiency
  • myopathy, congenital, due to integrin alpha-7 deficiency
congenital fiber-type disproportion
  • cftd
muscular dystrophy
  • muscular dystrophies
batten-turner congenital myopathy
  • congenital myopathy
muscular dystrophy-dystroglycanopathy , type a, 4
  • mddga4
- 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 variants affecting the gene represented in this entry.

Genatlas disease for ITGA7 Gene

congenital myopathy with delayed motor milestones

Additional Disease Information for ITGA7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 YK … Arahata K (Nature genetics 1998) 3 4 22 72
  2. The role of extracellular and cytoplasmic splice domains of alpha7-integrin in cell adhesion and migration on laminins. (PMID: 10694445) Schöber S … von der Mark K (Experimental cell research 2000) 3 4 22
  3. Expression of alpha 7 integrin cytoplasmic domains during skeletal muscle development: alternate forms, conformational change, and homologies with serine/threonine kinases and tyrosine phosphatases. (PMID: 8126096) Song WK … Kaufman SJ (Journal of cell science 1993) 3 4 22
  4. Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (PMID: 23800289) Esposito T … Di Iorio G (Orphanet journal of rare diseases 2013) 3 72
  5. Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences. (PMID: 22779914) Huang H … Vogel HJ (Biochemistry and cell biology = Biochimie et biologie cellulaire 2012) 3 4

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