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Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
ITGA8 (Integrin Subunit Alpha 8) is a Protein Coding gene. Diseases associated with ITGA8 include Renal Hypodysplasia/Aplasia 1 and Renal Agenesis, Bilateral. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. An important paralog of this gene is ITGAV.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J015718 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.2 | 1234 | 3 | CTCF TEAD4 PRDM10 ZNF692 ZIC2 ZSCAN4 PATZ1 EZH2 ZNF600 ZNF341 | ITGA8 HSPA14 RPP38 piR-59297-038 FAM171A1 | |
GH10J015747 | Enhancer | 0.5 | ENCODE dbSUPER | 12.7 | -27.8 | -27837 | 1.5 | SCRT2 ATF4 | ITGA8 piR-50444-038 lnc-RPP38-6 MINDY3 | |
GH10J015751 | Enhancer | 0.4 | dbSUPER | 12.7 | -31.1 | -31076 | 0.7 | CREB1 ATF2 ZNF18 SPI1 | piR-50444-038 ITGA8 lnc-RPP38-6 MINDY3 | |
GH10J015695 | Enhancer | 0.4 | Ensembl | 12.1 | +24.3 | 24334 | 0.4 | ZBTB17 IKZF1 PKNOX1 | ITGA8 piR-59297-038 FAM171A1 | |
GH10J015533 | Enhancer | 0.3 | FANTOM5 | 6.7 | +186.6 | 186630 | 0.3 | EZH2 | piR-31470-037 piR-58297-037 ITGA8 piR-57460-041 FAM171A1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | 24439109 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005925 | focal adhesion | HDA | 21423176 |
GO:0008305 | integrin complex | TAS | 7768999 |
GO:0009986 | cell surface | IDA | 24439109 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MAPK Erk Pathway |
.32
|
.32
|
2 | 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
|
3 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
|
4 | Focal Adhesion |
.61
.61
|
HGF Pathway
.33
|
5 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
RhoA Pathway
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001656 | metanephros development | IEA | -- |
GO:0001822 | kidney development | IMP | 24439109 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007160 | cell-matrix adhesion | NAS | 7768999 |
GO:0007229 | integrin-mediated signaling pathway | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITGA8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ITGA8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ITGA8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Itga8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itga8 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ITGA8 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ITGA8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ITGA8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ITGA8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itga8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | itga8 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | if 30 31 |
|
OneToMany | |
scb 32 |
|
|
|||
alphaPS4 32 |
|
|
|||
alphaPS5 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000032 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pat-2 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708079 | Benign: not provided | 15,659,046(-) | T/A | MISSENSE_VARIANT | |
709267 | Likely Benign: not provided | 15,660,882(-) | T/G | SYNONYMOUS_VARIANT | |
709564 | Benign: not provided | 15,586,604(-) | T/C | SYNONYMOUS_VARIANT | |
709864 | Benign: not provided | 15,592,273(-) | C/T | MISSENSE_VARIANT | |
709865 | Benign: not provided | 15,718,779(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv38n21 | CNV | gain | 19592680 |
dgv679n100 | CNV | gain | 25217958 |
dgv680n100 | CNV | gain | 25217958 |
dgv98e214 | CNV | gain | 21293372 |
esv2498205 | CNV | deletion | 19546169 |
esv2656916 | CNV | deletion | 23128226 |
esv2760135 | CNV | loss | 21179565 |
esv32914 | CNV | gain | 17666407 |
esv3622450 | CNV | loss | 21293372 |
nsv1069025 | CNV | deletion | 25765185 |
nsv516700 | CNV | loss | 19592680 |
nsv523569 | CNV | gain | 19592680 |
nsv524808 | CNV | gain | 19592680 |
nsv831795 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
renal hypodysplasia/aplasia 1 |
|
|
renal agenesis, bilateral |
|
|
bilateral renal aplasia |
|
|
juxtacortical chondrosarcoma |
|
|
nephrotic syndrome, type 5, with or without ocular abnormalities |
|
|