Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3679
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit alpha 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGA7
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.2
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17854600 G>A,T Pathogenic Synonymous variant, 5 prime UTR variant, coding sequence variant, stop gained
rs140030984 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs142311782 G>T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs144983062 C>T Conflicting-interpretations-of-pathogenicity, benign Missense variant, coding sequence variant
rs145463677 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign 5 prime UTR variant, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040010 hsa-miR-615-3p CLASH 23622248
MIRT1073709 hsa-miR-1972 CLIP-seq
MIRT1073710 hsa-miR-3616-3p CLIP-seq
MIRT1073711 hsa-miR-4436b-3p CLIP-seq
MIRT1073712 hsa-miR-4534 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22779914
GO:0005886 Component Plasma membrane TAS
GO:0007160 Process Cell-matrix adhesion TAS 9354797
GO:0007229 Process Integrin-mediated signaling pathway IEA
GO:0007517 Process Muscle organ development TAS 9354797, 9590299
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600536 6143 ENSG00000135424
Protein
UniProt ID Q13683
Protein name Integrin alpha-7 [Cleaved into: Integrin alpha-7 heavy chain; Integrin alpha-7 light chain; Integrin alpha-7 70 kDa form]
Protein 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 s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01839 FG-GAP 364 402 FG-GAP repeat Repeat
PF08441 Integrin_alpha2 515 1006 Integrin alpha Family
Tissue specificity 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 weakl
Sequence
MAGARSRDPWGASGICYLFGSLLVELLFSRAVAFNLDVMGALRKEGEPGSLFGFSVALHR
QLQPRPQSWLLVGAPQALALPGQQANRTGGLFACPLSLEETDCYRVDIDQGADMQKESKE
NQWLGVSVRSQGPGGKIVTCAHRYEARQRVDQILETRDMIGRCFVLSQDLAIRDELDGGE
WKFCEGRPQGHEQFGFCQQGTAAAFSPDSHYLLFGAPGTYNWKGTARVELCAQGSADLAH
LDDGPYEAGGEKEQDPRLIPVPANSYFGLLFVTNIDSSDPDQLVYKTLDPADRLPGPAGD
LALNSYLGFSIDSGKGLVRAEELSFVAGAPRANHKGAVVILRKDSASRLVPEVMLSGERL
TSGFGYSLAVADLNSDGWPDLIVGAPYFFERQEELGGAVYVYLNQGGHWAGISPLRLCGS
PDSMFGISLAVLGDLNQDGFPDIAVGAPFDGDGKVFIYHGSSLGVVAKPSQVLEGEAVGI
KSFGYSLSGSLDMDGNQYPDLLVGSLADTAVLFRARPILHVSHEVSIAPRSIDLEQPNCA
GGHSVCVDLRVCFSYIAVPSSYSPTVALDYVLDADTDRRLRGQVPRVTFLSRNLEEPKHQ
ASGTVWLKHQHDRVCGDAMFQLQENVKDKLRAIVVTLSYSLQTPRLRRQAPGQGLPPVAP
ILNAHQPSTQRAEIHFLKQGCGEDKICQSNLQLVRARFCTRVSDTEFQPLPMDVDGTTAL
FALSGQPVIGLELMVTNLPSDPAQPQADGDDAHEAQLLVMLPDSLHYSGVRALDPAEKPL
CLSNENASHVECELGNPMKRGAQVTFYLILSTSGISIETTELEVELLLATISEQELHPVS
ARARVFIELPLSIAGMAIPQQLFFSGVVRGERAMQSERDVGSKVKYEVTVSNQGQSLRTL
GSAFLNIMWPHEIANGKWLLYPMQVELEGGQGPGQKGLCSPRPNILHLDVDSRDRRRREL
EPPEQQEPGERQEPSMSWWPVSSAEKKKNITLDCARGTANCVVFSC
PLYSFDRAAVLHVW
GRLWNSTFLEEYSAVKSLEVIVRANITVKSSIKNLMLRDASTVIPVMVYLDPMAVVAEGV
PWWVILLAVLAGLLVLALLVLLLWKMGFFKRAKHPEATVPQYHAVKIPREDRQQFKEEKT
GTILRNNWGSPRREGPDAHPILAADGHPELGPDGHPGPGTA
Sequence length 1181
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Laminin interactions
ECM proteoglycans
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 15059925
Congenital myopathy with fiber type disproportion Congenital Fiber Type Disproportion, Congenital fiber-type disproportion myopathy rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772
View all (11 more)
23800289
Congenital muscular dystrophy Congenital muscular dystrophy (disorder), Muscular dystrophy congenital, merosin negative rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117
View all (45 more)
9590299
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Muscular dystrophy congenital muscular dystrophy due to integrin alpha-7 deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
Asthma Stimulate 31289310
Brain Neoplasms Associate 30696911
Breast Neoplasms Associate 23317273, 31325216, 32734521, 33500458, 34253873
Carcinoma Hepatocellular Inhibit 20651226
Carcinoma Non Small Cell Lung Associate 31418948
Carcinoma Renal Cell Associate 31713264
Colorectal Neoplasms Associate 34860442
Diabetic Retinopathy Associate 32993645
Endometriosis Associate 34409913
Glioblastoma Inhibit 20651226