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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]
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 Phagocytosis of Microbes and ERK Signaling. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22779914 |
GO:0046872 | metal ion binding | IEA | -- |
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 | -- |
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 |
.61
.61
|
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
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
RGD (Arg-Gly-Asp) Peptides | Pharma | Inhibits integrin binding to RGD motifs | 0 |
Compound | Action | Cas Number |
---|---|---|
RGD (Arg-Gly-Asp) Peptides | Inhibits integrin binding to RGD motifs | 99896-85-2 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITGA7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ITGA7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ITGA7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Itga7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itga7 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ITGA7 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ITGA7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itga7 30 |
|
||
Str.9614 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | itga7 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | alphaPS5 32 |
|
|
|
mew 31 32 |
|
OneToMany | |||
scb 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | ina-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6547 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
834153 | Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 55,694,453(-) |
G/T NM_002206.3(ITGA7):c.2347C>A (p.Leu783Met) |
MISSENSE | |
835292 | Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 55,695,515(-) |
C/A NM_002206.3(ITGA7):c.2003+7G>T |
INTRON | |
835837 | Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 55,695,568(-) |
G/A NM_002206.3(ITGA7):c.1957C>T (p.Arg653Cys) |
MISSENSE | |
838120 | Uncertain Significance: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 55,688,878(-) |
A/G NM_002206.3(ITGA7):c.2924T>C (p.Val975Ala) |
MISSENSE | |
838697 | Pathogenic: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 55,703,178(-) |
C/T NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter) |
NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy, congenital, due to integrin alpha-7 deficiency |
|
|
congenital fiber-type disproportion |
|
|
muscular dystrophy |
|
|
batten-turner congenital myopathy |
|
|
muscular dystrophy-dystroglycanopathy , type a, 4 |
|
|