Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all(26)

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
rs148641361	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs149028067	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149081471	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs149403824	T>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200390529	G>A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, stop gained, coding sequence variant
rs200402328	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant
rs200714716	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs372328960	G>A	Pathogenic	Stop gained, coding sequence variant
rs377510220	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs587780362	C>-,CC	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs750756707	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs761067098	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs767943997	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs773004449	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs777049999	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1060499775	->T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1217190017	C>T	Likely-pathogenic	Splice donor variant
rs1474512248	CAATAGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565622052	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565627745	T>C	Pathogenic	Splice acceptor variant
rs1565629479	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant

Show/Hide all(70)

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
MIRT1073713	hsa-miR-4691-3p	CLIP-seq
MIRT1073714	hsa-miR-4755-3p	CLIP-seq
MIRT1073715	hsa-miR-4802-5p	CLIP-seq
MIRT1073716	hsa-miR-125a-5p	CLIP-seq
MIRT1073717	hsa-miR-125b	CLIP-seq
MIRT1073718	hsa-miR-1291	CLIP-seq
MIRT1073719	hsa-miR-146b-3p	CLIP-seq
MIRT1073720	hsa-miR-328	CLIP-seq
MIRT1073721	hsa-miR-339-5p	CLIP-seq
MIRT1073722	hsa-miR-4319	CLIP-seq
MIRT1073723	hsa-miR-4732-3p	CLIP-seq
MIRT1073724	hsa-miR-670	CLIP-seq
MIRT2250082	hsa-miR-1197	CLIP-seq
MIRT2250083	hsa-miR-1224-3p	CLIP-seq
MIRT2250084	hsa-miR-3121-5p	CLIP-seq
MIRT2250085	hsa-miR-4436a	CLIP-seq
MIRT2250086	hsa-miR-4711-5p	CLIP-seq
MIRT2553618	hsa-miR-124	CLIP-seq
MIRT2553619	hsa-miR-1257	CLIP-seq
MIRT2553620	hsa-miR-154	CLIP-seq
MIRT2553621	hsa-miR-1827	CLIP-seq
MIRT2553622	hsa-miR-3125	CLIP-seq
MIRT2553623	hsa-miR-3170	CLIP-seq
MIRT2553624	hsa-miR-3189-3p	CLIP-seq
MIRT2553625	hsa-miR-3202	CLIP-seq
MIRT2553626	hsa-miR-3612	CLIP-seq
MIRT2553627	hsa-miR-3714	CLIP-seq
MIRT2553628	hsa-miR-3910	CLIP-seq
MIRT2553629	hsa-miR-3916	CLIP-seq
MIRT2553630	hsa-miR-3941	CLIP-seq
MIRT2553631	hsa-miR-4476	CLIP-seq
MIRT2553632	hsa-miR-4497	CLIP-seq
MIRT2553633	hsa-miR-466	CLIP-seq
MIRT2553634	hsa-miR-4672	CLIP-seq
MIRT2553635	hsa-miR-4736	CLIP-seq
MIRT2553636	hsa-miR-4790-3p	CLIP-seq
MIRT2553637	hsa-miR-506	CLIP-seq
MIRT2553638	hsa-miR-615-5p	CLIP-seq
MIRT2553639	hsa-miR-642b	CLIP-seq
MIRT2553640	hsa-miR-650	CLIP-seq
MIRT2553641	hsa-miR-940	CLIP-seq
MIRT2553618	hsa-miR-124	CLIP-seq
MIRT2553619	hsa-miR-1257	CLIP-seq
MIRT2553620	hsa-miR-154	CLIP-seq
MIRT2553621	hsa-miR-1827	CLIP-seq
MIRT2553622	hsa-miR-3125	CLIP-seq
MIRT2553623	hsa-miR-3170	CLIP-seq
MIRT2553624	hsa-miR-3189-3p	CLIP-seq
MIRT2553625	hsa-miR-3202	CLIP-seq
MIRT2553626	hsa-miR-3612	CLIP-seq
MIRT2553627	hsa-miR-3714	CLIP-seq
MIRT2553628	hsa-miR-3910	CLIP-seq
MIRT2553629	hsa-miR-3916	CLIP-seq
MIRT2553630	hsa-miR-3941	CLIP-seq
MIRT2553631	hsa-miR-4476	CLIP-seq
MIRT2553632	hsa-miR-4497	CLIP-seq
MIRT2553633	hsa-miR-466	CLIP-seq
MIRT2553634	hsa-miR-4672	CLIP-seq
MIRT2553635	hsa-miR-4736	CLIP-seq
MIRT2553636	hsa-miR-4790-3p	CLIP-seq
MIRT2553637	hsa-miR-506	CLIP-seq
MIRT2553638	hsa-miR-615-5p	CLIP-seq
MIRT2553639	hsa-miR-642b	CLIP-seq
MIRT2553640	hsa-miR-650	CLIP-seq
MIRT2553641	hsa-miR-940	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22779914
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	TAS	9354797
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007517	Process	Muscle organ development	TAS	9354797, 9590299
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IC	20563599
GO:0016020	Component	Membrane	IEA
GO:0034113	Process	Heterotypic cell-cell adhesion	IMP	20563599
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0038023	Function	Signaling receptor activity	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050900	Process	Leukocyte migration	IBA
GO:0098609	Process	Cell-cell adhesion	IBA

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
EPPEQQEPGERQEPSMSWWPVSSAEKKKNITLDCARGTANCVVFSCPLYSFDRAAVLHVW
GRLWNSTFLEEYSAVKSLEVIVRANITVKSSIKNLMLRDASTVIPVMVYLDPMAVVAEGV
PWWVILLAVLAGLLVLALLVLLLWKMGFFKRAKHPEATVPQYHAVKIPREDRQQFKEEKT
GTILRNNWGSPRREGPDAHPILAADGHPELGPDGHPGPGTA

Sequence length

1181

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital muscular dystrophy	Congenital muscular dystrophy due to integrin alpha-7 deficiency	rs1565620275, rs17854600, rs1565627745, rs755438542, rs774985604, rs1872274494, rs1565629479, rs1874440714, rs587780362, rs1474512248, rs372328960, rs1217190017, rs750756707, rs1565622052	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital myopathy with fiber type disproportion	congenital fiber-type disproportion myopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Isolated Noncompaction of the Ventricular Myocardium	Associate	23800289
Leiomyosarcoma	Associate	20460506, 28884746
Leukemia	Stimulate	34743543
Leukemia Myeloid Acute	Stimulate	31855276
Limb girdle muscular dystrophy type 2C	Associate	12057917
Lymphatic Metastasis	Associate	31325216
Lymphatic Metastasis	Stimulate	35194895
Malformations of Cortical Development Group I	Stimulate	20651226
Muscular Dystrophy Congenital Due To Integrin Alpha 7 Deficiency	Associate	12057917
Myopathies Structural Congenital	Associate	23800289
Myotonia Congenita	Associate	23800289
Neoplasm Metastasis	Associate	16164832, 25887589, 32963582, 35194895
Neoplasms	Associate	20460506, 25887589, 27228072, 31325216, 31713264, 35194895, 38523597
Neoplasms	Inhibit	20651226, 23830872, 31942970
Neoplasms	Stimulate	31418948, 31789398
Neural Tube Defects	Stimulate	33491544
Osteosarcoma	Associate	32963582
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	34743543
Prostatic Neoplasms	Associate	20460506, 23830872
Prostatic Neoplasms	Inhibit	20651226
Respiratory Hypersensitivity	Associate	31289310
Soft Tissue Injuries	Inhibit	20651226
Squamous Cell Carcinoma of Head and Neck	Associate	31789398
Status Asthmaticus	Associate	31289310
Thyroid Cancer Papillary	Associate	25887589, 31942970
Thyroid Neoplasms	Inhibit	31942970
Urinary Bladder Neoplasms	Associate	38523597
Uterine Cervical Neoplasms	Associate	35194895

ITGA7 (integrin subunit alpha 7)