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    ITGA7 integrin subunit alpha 7 [ Homo sapiens (human) ]

    Gene ID: 3679, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ITGA7provided by HGNC
    Official Full Name
    integrin subunit alpha 7provided by HGNC
    Primary source
    HGNC:HGNC:6143
    See related
    Ensembl:ENSG00000135424 MIM:600536; AllianceGenome:HGNC:6143
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Biased expression in fat (RPKM 86.9), heart (RPKM 53.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITGA7 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55684568..55716400, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55651197..55683036, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56078352..56106192, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6450 Neighboring gene olfactory receptor family 10 subfamily AE member 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6451 Neighboring gene VISTA enhancer hs2573 Neighboring gene proteasome subunit beta 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56075179-56075854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56078881-56079380 Neighboring gene thiol methyltransferase 1B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:56087579-56088778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4534 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 molecule Neighboring gene CD63 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts. Liu X, et al. Mol Carcinog, 2024 Mar. PMID 38174862
    2. Epigenetic down-regulation of integrin α7 increases migratory potential and confers poor prognosis in malignant pleural mesothelioma. Laszlo V, et al. J Pathol, 2015 Oct. PMID 26011651
    3. Human α7 Integrin Gene (ITGA7) Delivered by Adeno-Associated Virus Extends Survival of Severely Affected Dystrophin/Utrophin-Deficient Mice. Heller KN, et al. Hum Gene Ther, 2015 Oct. PMID 26076707, Free PMC Article
    4. Laminin-binding integrin alpha7 is required for contractile phenotype expression by human airway myocytes. Tran T, et al. Am J Respir Cell Mol Biol, 2007 Dec. PMID 17641293, Free PMC Article
    5. Analysis of integrin alpha7 mutations in prostate cancer, liver cancer, glioblastoma multiforme, and leiomyosarcoma. Ren B, et al. J Natl Cancer Inst, 2007 Jun 6. PMID 17551147

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircITGA7 regulates malignant phenotypes in bladder cancer cells via targeting miR-330-3p/KLF10 axis.
      Title: CircITGA7 regulates malignant phenotypes in bladder cancer cells via targeting miR-330-3p/KLF10 axis.
    2. ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts.
      Title: ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts.
    3. Integrin alpha7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
      Title: Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
    4. The relationship among integrin alpha 7, CD133 and Nestin as well as their correlation with clinicopathological features and prognosis in astrocytoma patients.
      Title: The relationship among integrin alpha 7, CD133 and Nestin as well as their correlation with clinicopathological features and prognosis in astrocytoma patients.
    5. ITGA7, CD133, ALDH1 are inter-correlated, and linked with poor differentiation, lymph node metastasis as well as worse survival in surgical cervical cancer.
      Title: ITGA7, CD133, ALDH1 are inter-correlated, and linked with poor differentiation, lymph node metastasis as well as worse survival in surgical cervical cancer.
    6. ITGA7 relates to disease risk, pathological feature, treatment response and survival in Ph(-) acute lymphoblastic leukemia.
      Title: ITGA7 relates to disease risk, pathological feature, treatment response and survival in Ph(-) acute lymphoblastic leukemia.
    7. Decrease in ITGA7 Levels Is Associated with an Increase in alpha-Synuclein Levels in an MPTP-Induced Parkinson's Disease Mouse Model and SH-SY5Y Cells.
      Title: Decrease in ITGA7 Levels Is Associated with an Increase in α-Synuclein Levels in an MPTP-Induced Parkinson's Disease Mouse Model and SH-SY5Y Cells.
    8. Transcriptome profiles of stem-like cells from primary breast cancers allow identification of ITGA7 as a predictive marker of chemotherapy response.
      Title: Transcriptome profiles of stem-like cells from primary breast cancers allow identification of ITGA7 as a predictive marker of chemotherapy response.
    9. Integrin alpha 7 correlates with poor clinical outcomes, and it regulates cell proliferation, apoptosis and stemness via PTK2-PI3K-Akt signaling pathway in hepatocellular carcinoma.
      Title: Integrin alpha 7 correlates with poor clinical outcomes, and it regulates cell proliferation, apoptosis and stemness via PTK2-PI3K-Akt signaling pathway in hepatocellular carcinoma.
    10. Predictive value of integrin alpha7 for acute myeloid leukemia risk and its correlation with prognosis in acute myeloid leukemia patients.
      Title: Predictive value of integrin α7 for acute myeloid leukemia risk and its correlation with prognosis in acute myeloid leukemia patients.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital muscular dystrophy due to integrin alpha-7 deficiency
    MedGen: C2750786 OMIM: 613204 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in heterotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in leukocyte migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IC
    Inferred by Curator
    more info
    		 PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    integrin alpha-7
    Names
    integrin alpha 7 chain

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012343.1 RefSeqGene

      Range
      5001..32738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_871

    mRNA and Protein(s)

    1. NM_001144996.2 → NP_001138468.1  integrin alpha-7 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001138468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB210036, AC009779, AF032108, AY358882, DA398527
      Consensus CDS
      CCDS55832.1
      UniProtKB/TrEMBL
      A0A8I5KSX0
      Related
      ENSP00000452120.1, ENST00000553804.6
      Conserved Domains (2) summary
      smart00191
      Location:381 → 433
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:475 → 966
      Integrin_alpha2; Integrin alpha

    2. NM_001144997.2 → NP_001138469.1  integrin alpha-7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC009779
      Consensus CDS
      CCDS44914.1
      UniProtKB/TrEMBL
      G3V2C6
      Related
      ENSP00000393844.2, ENST00000452168.6
      Conserved Domains (2) summary
      smart00191
      Location:284 → 336
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:378 → 869
      Integrin_alpha2; Integrin alpha

    3. NM_001367993.1 → NP_001354922.1  integrin alpha-7 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC009779
      UniProtKB/TrEMBL
      G3V2C6

    4. NM_001367994.1 → NP_001354923.1  integrin alpha-7 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC009779

    5. NM_001374465.1 → NP_001361394.1  integrin alpha-7 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779
      Consensus CDS
      CCDS91703.1
      UniProtKB/TrEMBL
      J3KNV4, Q4LE35
      Related
      ENSP00000343009.6, ENST00000347027.10
      Conserved Domains (2) summary
      smart00191
      Location:377 → 429
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:471 → 956
      Integrin_alpha2; Integrin alpha

    6. NM_001410977.1 → NP_001397906.1  integrin alpha-7 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779
      Consensus CDS
      CCDS91704.1
      UniProtKB/Swiss-Prot
      B4E3U0, C9JMD3, C9JMZ6, O43197, Q13683, Q86W93, Q9NY89, Q9UET0, Q9UEV2
      Related
      ENSP00000452387.1, ENST00000555728.5

    7. NM_001414029.1 → NP_001400958.1  integrin alpha-7 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779

    8. NM_001414030.1 → NP_001400959.1  integrin alpha-7 isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779

    9. NM_001414031.1 → NP_001400960.1  integrin alpha-7 isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779

    10. NM_001414032.1 → NP_001400961.1  integrin alpha-7 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779

    11. NM_001414033.1 → NP_001400962.1  integrin alpha-7 isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779

    12. NM_001414034.1 → NP_001400963.1  integrin alpha-7 isoform 13 precursor

      Status: REVIEWED

      Source sequence(s)
      AC009779

    13. NM_001414035.1 → NP_001400964.1  integrin alpha-7 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC009779

    14. NM_002206.3 → NP_002197.2  integrin alpha-7 isoform 2 precursor

      See identical proteins and their annotated locations for NP_002197.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame coding exon compared to transcript variant 1. This results in a slightly shorter isoform (2) with a different internal protein segment compared to isoform 1.
      Source sequence(s)
      AB210036, AC009779, AF032108, DA398527
      Consensus CDS
      CCDS8888.1
      UniProtKB/TrEMBL
      Q4LE35
      Related
      ENSP00000257879.7, ENST00000257879.11
      Conserved Domains (2) summary
      smart00191
      Location:377 → 429
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:471 → 962
      Integrin_alpha2; Integrin alpha

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55684568..55716400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428797.1 → XP_047284753.1  integrin alpha-7 isoform X5

    2. XM_005268844.2 → XP_005268901.1  integrin alpha-7 isoform X3

      See identical proteins and their annotated locations for XP_005268901.1

      UniProtKB/TrEMBL
      G3V2C6
      Conserved Domains (2) summary
      smart00191
      Location:308 → 360
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:402 → 893
      Integrin_alpha2; Integrin alpha

    3. XM_005268848.2 → XP_005268905.1  integrin alpha-7 isoform X6

      See identical proteins and their annotated locations for XP_005268905.1

      UniProtKB/TrEMBL
      G3V2C6
      Related
      ENSP00000450578.2, ENST00000557257.2
      Conserved Domains (2) summary
      smart00191
      Location:263 → 315
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:357 → 848
      Integrin_alpha2; Integrin alpha

    4. XM_047428796.1 → XP_047284752.1  integrin alpha-7 isoform X4

    5. XM_047428794.1 → XP_047284750.1  integrin alpha-7 isoform X4

    6. XM_047428793.1 → XP_047284749.1  integrin alpha-7 isoform X3

    7. XM_047428795.1 → XP_047284751.1  integrin alpha-7 isoform X4

    8. XM_017019265.2 → XP_016874754.1  integrin alpha-7 isoform X4

      UniProtKB/TrEMBL
      G3V2C6

    9. XM_047428798.1 → XP_047284754.1  integrin alpha-7 isoform X7

    10. XM_047428792.1 → XP_047284748.1  integrin alpha-7 isoform X3

    11. XM_005268840.3 → XP_005268897.1  integrin alpha-7 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KSX0
      Conserved Domains (2) summary
      smart00191
      Location:421 → 473
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:515 → 1000
      Integrin_alpha2; Integrin alpha

    12. XM_005268841.3 → XP_005268898.1  integrin alpha-7 isoform X2

      UniProtKB/TrEMBL
      H0YJ98
      Related
      ENSP00000451039.3, ENST00000557555.3
      Conserved Domains (2) summary
      smart00191
      Location:421 → 473
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:515 → 1006
      Integrin_alpha2; Integrin alpha

    13. XM_047428799.1 → XP_047284755.1  integrin alpha-7 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55651197..55683036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371966.1 → XP_054227941.1  integrin alpha-7 isoform X5

    2. XM_054371962.1 → XP_054227937.1  integrin alpha-7 isoform X3

    3. XM_054371967.1 → XP_054227942.1  integrin alpha-7 isoform X6

    4. XM_054371965.1 → XP_054227940.1  integrin alpha-7 isoform X4

    5. XM_054371964.1 → XP_054227939.1  integrin alpha-7 isoform X4

    6. XM_054371963.1 → XP_054227938.1  integrin alpha-7 isoform X3

    7. XM_054371968.1 → XP_054227943.1  integrin alpha-7 isoform X7

    8. XM_054371961.1 → XP_054227936.1  integrin alpha-7 isoform X3

    9. XM_054371959.1 → XP_054227934.1  integrin alpha-7 isoform X1

    10. XM_054371960.1 → XP_054227935.1  integrin alpha-7 isoform X2

    11. XM_054371969.1 → XP_054227944.1  integrin alpha-7 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13683.3 GenPept UniProtKB/Swiss-Prot:Q13683

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