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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ITGA7 Gene

protein-coding GIFtS: 65
GCID: GC12M056078

integrin, alpha 7

Explore 17 diseases affiliated with
ITGA7 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Integrin, Alpha 7¹ ²
Integrin Alpha 7 Chain²
Integrin Alpha-7²

External Ids:	HGNC: 6143¹	Entrez Gene: 3679²	Ensembl: ENSG00000135424⁷	OMIM: 600536⁵	UniProtKB: Q13683³

Export aliases for ITGA7 gene to outside databases

Previous GC identifers: GC12M056002 GC12M056151 GC12M055795 GC12M054364 GC12M053117

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITGA7:

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)

UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683

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

Gene Wiki entry for ITGA7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITGA7 gene promoter:
E2F-3a E2F-4 E2F-5 C/EBPbeta E2F E2F-1 E2F-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ITGA7 promoter sequence

Search SABiosciences Chromatin IP Primers for ITGA7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGA7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.2 HGNC cytogenetic band: 12q13

ITGA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGA7 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M056078: view genomic region (about GC identifiers)

Start:	56,078,352 bp from pter	End:	56,109,827 bp from pter
Size:	31,476 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683 (See protein sequence)

Recommended Name: Integrin alpha-7 precursor

Size: 1181 amino acids; 128948 Da

Subunit: 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)

Subcellular location: Membrane; Single-pass type I membrane protein

Developmental stage: In renewing intestinal epithelium, expression of isoforms containing segment B correlates with the

onset of enterocytic differentiation

Secondary accessions: B4E3U0 C9JMD3 C9JMZ6 O43197 Q86W93 Q9NY89 Q9UET0 Q9UEV2

Alternative splicing: 6 isoforms: Q13683-1 Q13683-3 Q13683-7 Q13683-9 Q13683-10 Q13683-13 (Gene prediction based on similarity to mouse ortholog)

Explore the universe of human proteins at neXtProt for ITGA7: NX_Q13683

Post-translational modifications:

ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes (By similarity)¹

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 laminin¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13683

ITGA7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001138468.1 NP_001138469.1 NP_002197.2

ENSEMBL proteins:

ENSP00000452120 ENSP00000257879 ENSP00000450693 ENSP00000343009 ENSP00000393844

ENSP00000452387 ENSP00000451039 ENSP00000450679 ENSP00000450578 ENSP00000451311

ENSP00000452043 ENSP00000452467 ENSP00000450798 ENSP00000257880 ENSP00000377777

ENSP00000377776

Reactome Protein details: Q13683
Human Recombinant Protein Products:

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	Novus Biologicals ITGA7 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0008305	integrin complex	IEA	--
GO:0009986	cell surface	IEA	--

ITGA7 for ontologies About GeneDecksing

ITGA7 Antibody Products:

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	Novus Biologicals ITGA7 Antibodies
	Search for Antibodies for ITGA7 at Abcam
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	Search ThermoFisher Antibodies for ITGA7

Assay Products for ITGA7:

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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for ITGA7
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ITGA7 for domains About GeneDecksing

5 InterPro domains/families:

IPR000413 Integrin_alpha

IPR013519 Int_alpha_beta-p

IPR018184 Integrin_alpha_C_CS

IPR013517 FG-GAP

IPR013649 Integrin_alpha-2

Graphical View of Domain Structure for InterPro Entry Q13683

ProtoNet protein and cluster: Q13683

3 Blocks protein families:

IPB000413 Integrins alpha chain

IPB013513 Integrin alpha chain

IPB013517 FG-GAP

UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683

Similarity: Belongs to the integrin alpha chain family

Similarity: Contains 7 FG-GAP repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683

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 entry for ITGA7:

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

miRNA Products:		OriGene 3'-UTR Clone (see all 3): ITGA7 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA7
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGA7:
		hsa-miR-3671 hsa-miR-3910 hsa-miR-124 hsa-miR-3121-3p hsa-miR-506 hsa-miR-545 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: ITGA7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGA7 (see all 7) OriGene shRNA RFP: ITGA7 OriGene siRNA: ITGA7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGA7

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ITGA7

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA7

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005178	integrin binding	IEA	--
GO:0043236	laminin binding	IEA	--
GO:0046872	metal ion binding	IEA	--
GO:0046982	protein heterodimerization activity	IEA	--

ITGA7 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for ITGA7:

Decreased Hepatitis C virus re

Increased cell number in G2M,

Animal Models:
Mouse knock-out Itga7^tm1Umr for ITGA7
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Itga7):

behavior/neurological	cardiovascular system	cellular	growth/size	homeostasis/metabolism
mortality/aging	muscle	nervous system	skeleton

ITGA7 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/21 super-pathways (see all 21) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56

Apoptotic Pathways in Synovial Fibroblasts

PPAR Pathway	0.66	Actin-Based Motility by Rho Family GTPases	0.52
Rac1 Pathway	0.58	Rap1 Pathway	0.42
Glioma Invasiveness	0.54

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			RhoA Pathway	0.35
	Actin Nucleation and Branching	0.66			CDC42 Pathway	0.34

Rho Family GTPases

	Rho Family GTPases	1.00			Molecular Mechanisms of Cancer	0.51
	ERK Signaling	0.61			MAPK Signaling	0.51

Focal Adhesion

	Focal Adhesion	1.00			Integrin-mediated cell adhesion	0.38
	Focal adhesion	0.66			HGF Pathway	0.24

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ITGA7

Cell adhesion Integrin-mediated cell adhesion and migration

5/33 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITGA7 (see all 33)

	RhoA Pathway
	Paxillin Interactions
	Molecular Mechanisms of Cancer
	CDK5 Pathway
	Tec Kinases Signaling

1 GeneGo (Thomson Reuters) Pathway for ITGA7

Cell adhesion Integrin-mediated cell adhesion and migration

3 BioSystems Pathways for ITGA7

	Focal Adhesion
	Integrin-mediated cell adhesion
	Arrhythmogenic right ventricular cardiomyopathy

2 Reactome Pathways for ITGA7

	Integrin cell surface interactions
	Signal Transduction

5/6 Kegg Pathways (Kegg details for ITGA7) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Regulation of actin cytoskeleton
	Hypertrophic cardiomyopathy (HCM)
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)

ITGA7 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ITGA7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/100 Interacting proteins for ITGA7 (Q13683^{2, 3} ENSP00000257879⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 100)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FHL2	Q14192²^,³, ENSP00000322909⁴	MINT-17127 MINT-17128 I2D: score=5 STRING: ENSP00000322909
MYOC	Q99972³, ENSP00000037502⁴	I2D: score=1 STRING: ENSP00000037502
ITGB1	P05556³, ENSP00000364094⁴	I2D: score=2 STRING: ENSP00000364094
CHRNA1	P02708³, ENSP00000261007⁴	I2D: score=2 STRING: ENSP00000261007
FHL3	Q13643³, ENSP00000362107⁴	I2D: score=2 STRING: ENSP00000362107

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	--	--
GO:0007160	cell-matrix adhesion	TAS	9354797
GO:0007229	integrin-mediated signaling pathway	IEA	--
GO:0007517	muscle organ development	TAS	9590299
GO:0007519	skeletal muscle tissue development	IEA	--

ITGA7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ITGA7 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ITGA7
1 Novoseek chemical compound relationship for ITGA7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	0	2	15908587 (1), 20053730 (1)

Search CenterWatch for drugs/clinical trials and news about ITGA7 / ITA7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ITGA7 gene (3 alternative transcripts):

NM_001144996.1 NM_001144997.1 NM_002206.2

Unigene Cluster for ITGA7:

Integrin, alpha 7

Hs.524484 [show with all ESTs]

Unigene Representative Sequence: NM_001144996

18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):

ENST00000553804(uc009znw.3) ENST00000257879(uc009znx.3 uc001shg.3)

ENST00000554327 ENST00000347027 ENST00000452168(uc010sps.2) ENST00000555728

ENST00000557555 ENST00000557058 ENST00000557488 ENST00000556273 ENST00000554543

ENST00000557257 ENST00000553276 ENST00000555687 ENST00000554724 ENST00000553737

ENST00000556371 ENST00000553893

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA7
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGA7:
		hsa-miR-3671 hsa-miR-3910 hsa-miR-124 hsa-miR-3121-3p hsa-miR-506 hsa-miR-545 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: ITGA7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGA7 (see all 7) OriGene shRNA RFP: ITGA7 OriGene siRNA: ITGA7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGA7

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGA7

Additional cDNA sequence:

AB210036.1 AF032108.1 AF034833.1 AF052050.1 AF072132.1 AK022548.1 AK057949.1 AK304864.1

AY358882.1 BC050280.1 X74295.1

20 DOTS entries:

DT.100033081 DT.213688 DT.121147490 DT.95162326 DT.441752 DT.100776157 DT.213689 DT.121147543

DT.91972940 DT.97792514 DT.100668725 DT.100776156 DT.121147542 DT.99961514 DT.91981868 DT.95246013

DT.100059454 DT.40217105 DT.91663911 DT.91685612

24/85 AceView cDNA sequences (see all 85):

T60926 AY358508 AI422008 AI973167 AI422973 NM_152637 BG164318 BM801575

BU624323 BC020509 BF196751 CR595874 AI147742 CB158487 BQ877459 BQ878806

AW068589 AI276268 F28621 AA631581 AI769889 AA609574 AA701542 AI422422

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ITGA7 (see all 11) About this scheme

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:

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

ECgene alternative splicing isoforms for ITGA7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ITGA7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGTAGGGTG

About this image

ITGA7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Muscle Satellite Pool

Forelimb Muscle Satellite Cells

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Muscle Satellite Pool

Hindlimb Muscle Satellite Cells

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Muscle Satellite Pool

Muscle Satellite Cells

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Expanded PAX7 cells (Generation of skelet...)

See ITGA7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITGA7

SOURCE GeneReport for Unigene cluster: Hs.524484

UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683

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

SABiosciences Expression via Pathway-Focused PCR Arrays including ITGA7:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Focal Adhesions in human mouse rat

Tumor Metastasis in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ITGA7 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ITGA7⁶	--	61(a)	1 ↔ 1	GL343198.1(1970863-2009564)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.9614²	Transcribed sequence with weak similarity to protein more	70.15(n)		137725744
zebrafish (Danio rerio)	Actinopterygii	CABZ01072242.1⁶ itga7⁶	integrin, alpha 7	54(a) 53(a)	1 ↔ many 1 ↔ many	11(138989-140910) 11(141148-148254)
fruit fly (Drosophila melanogaster)	Insecta	alphaPS5³ mew¹	cell-matrix adhesion cell adhesion receptor³ multiple edematous wings¹	31(a) (best of 3)³ 46.93(n)¹ 35.56(a)¹		59E4³ 32275¹ NM_078590.2¹ NP_511145.2¹
worm (Caenorhabditis elegans)	Secernentea	ina-1^{1 , 3}	Integrin alpha chain³ Protein INA-1¹	26(a)³ 41.37(n)¹ 30.75(a)¹		III(9240086-9244462)³ 176296¹ NM_066631.3¹ NP_499032.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ITGA7 gene

ITGA1² ITGA6² ITGA3² ITGA8² ITGAM² ITGA11² ITGA2² ITGA5²

ITGAE² ITGAD² ITGA2B² ITGAV² ITGAX² ITGAL² ITGA9² ITGA4²

ITGA10²

7 SIMAP similar genes for ITGA7 using alignment to 11 protein entries: ITA7_HUMAN (see all proteins):

ITGA7 variant protein ITGA6 ITGA2B ITGA3 ITGA10 ITGA9

ITGA4

ITGA7 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs114876595^1,2	C,F,	--	53116875(+)	`CCCAGG/AGAGGA`	3	--	ds500¹		1		WA	118
rs12320702^1,2	C,F,H,	--	53117049(+)	`GGTGCC/TTGCAT`	3	--	ds500¹		16		NS EA NA WA CSA	1542
rs192168266^1,2	C,	--	53117298(+)	`CTCCTC/TCCCGA`	3	--	ut3¹		0	--	--	--	--
rs112933793^1,2		--	53117943(+)	`CCCTGG/AAGCAG`	3	--	int¹		1		CSA	2
rs3741505^1,2	H	--	53117945(+)	`CTGGAG/ACAGAT`	3	--	int¹		5		EA NS	1914
rs113702081^1,2		--	53118142(+)	`TTGGCC/ACCTGA`	3	--	int¹		1		CSA	2
rs17117860^1,2	C,F,H,	--	53118283(+)	`TGCATC/GTCTGG`	3	--	int¹		19		NA NS EA CSA WA	2032
rs17117863^1,2	C,F,H,	--	53118515(+)	`ACACAT/CTCATC`	3	--	int¹		14		NA NS EA CSA WA	1433
rs78083339^1,2		--	53119136(+)	`CTTGCC/TAAAGG`	3	--	int¹		1		EA	120
rs11832080^1,2	C,F,A,H,	--	53119214(+)	`ACATGT/GGTGGT`	3	--	int¹		6		NS EA NA WA	506

HapMap Linkage Disequilibrium report for ITGA7 (56078352 - 56109827 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ITGA7: --
Human Gene Mutation Database (HGMD): ITGA7

Locus Specific Mutation Databases (LSDB): ITGA7

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITGA7

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ITGA7 for disorders           About GeneDecksing

OMIM gene information: 600536
OMIM disorders: 613204
UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683

Defects in ITGA7 are the cause of 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

17 diseases for ITGA7: About MalaCards

fukuyama congenital muscular dystrophy myopathy muscular dystrophy congenital muscular dystrophy

duchenne muscular dystrophy leiomyosarcoma hypotonia liver cancer

pharyngitis prostate cancer glioblastoma esophagitis

neuroblastoma prostatitis adenocarcinoma neuronitis

carcinoma

2 diseases from the University of Copenhagen DISEASES database for ITGA7:

Myopathy Neuropathy

9 Novoseek disease relationships for ITGA7 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
muscular dystrophies	75.4	10	9590299 (1), 10711985 (1), 16684813 (1), 19260934 (1) (see all 7)
myopathy, congenital	74.9	5	9590299 (2), 19074617 (1), 11361006 (1)
fukuyama congenital muscular dystrophy	71.7	1	10222457 (1)
myopathy	40.9	2	16476707 (1), 11361006 (1)
muscular dystrophy duchenne	32	4	16476707 (2)
necrosis	0	1	16684813 (1)
metastasis	0	4	17551147 (2), 16164832 (1)
tumors	0	9	17551147 (5)
melanoma	0	1	8567661 (1)

Genatlas disease: ITGA7

congenital myopathy with delayed motor milestones

Human Genome Epidemiology (HuGE) Navigator: ITGA7 (1 document)

Export disorders for ITGA7 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ITGA7 gene, integrated from 9 sources (see all 89):
(articles sorted by number of sources associating them with ITGA7)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in the integrin alpha7 gene cause congenital myopathy. (PubMed id 9590299)^{1, 2, 9} Hayashi Y.K....Arahata K. (1998)
The role of extracellular and cytoplasmic splice domains of alpha7- integrin in cell adhesion and migration on laminins. (PubMed id 10694445)^{1, 2, 9} Schoeber S.... von der Mark K. (2000)
Expression of alpha 7 integrin cytoplasmic domains during skeletal muscle development: alternate forms, conformational change, and homologies with serine/threonine kinases and tyrosine phosphatases. (PubMed id 8126096)^{1, 2, 9} Song W.K.... Kaufman S.J. (1993)
Genetically determined proteolytic cleavage modulates alpha7beta1 integrin function. (PubMed id 18940796)^{1, 2} Liu J....Kaufman S.J. (2008)
Laminin-binding integrin alpha7 is required for contractile phenotype expression by human airway myocytes. (PubMed id 17641293)^{1, 2} Tran T....Halayko A.J. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7). (PubMed id 10403775)^{1, 2} Vignier N....Guicheney P. (1999)
A novel extracellular domain variant of the human integrin alpha 7 subunit generated by alternative intron splicing. (PubMed id 9473524)^{1, 2} Leung E....Krissansen G.W. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3679	HGNC: 6143	AceView: MGC17301	Ensembl:ENSG00000135424	euGenes: HUgn3679
ECgene: ITGA7	Kegg: 3679	H-InvDB: ITGA7

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ITGA7	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ITGA7	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ITGA7 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ITGA7 gene:
Search GeneIP for patents involving ITGA7

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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ITGA7 Gene

integrin, alpha 7

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ITGA7 Gene

integrin, alpha 7

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