Human Gene ITGA8 (ENST00000378076.4) from GENCODE V44
  Description: Homo sapiens integrin subunit alpha 8 (ITGA8), transcript variant 1, mRNA. (from RefSeq NM_003638)
RefSeq Summary (NM_003638): 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].
Gencode Transcript: ENST00000378076.4
Gencode Gene: ENSG00000077943.8
Transcript (Including UTRs)
   Position: hg38 chr10:15,513,954-15,719,922 Size: 205,969 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg38 chr10:15,517,158-15,719,771 Size: 202,614 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:15,513,954-15,719,922)mRNA (may differ from genome)Protein (1063 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Integrin alpha-8; Contains: RecName: Full=Integrin alpha-8 heavy chain; Contains: RecName: Full=Integrin alpha-8 light chain; Flags: Precursor;
FUNCTION: Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons.
SUBUNIT: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an heavy and a light chain linked by a disulfide bond. Alpha-8 associates with beta-1.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed in mesenchymal cells, including alveolar myofibroblasts, kidney mesangial cells and hepatic stellar cells and vascular and visceral smooth muscle (at protein level).
SIMILARITY: Belongs to the integrin alpha chain family.
SIMILARITY: Contains 7 FG-GAP repeats.
WEB RESOURCE: Name=SeattleSNPs; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: ITGA8
Diseases sorted by gene-association score: renal hypodysplasia/aplasia 1* (1696), renal hypodysplasia (28), fraser syndrome 1 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 237.35 RPKM in Artery - Aorta
Total median expression: 607.05 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.20151-0.472 Picture PostScript Text
3' UTR -836.003204-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013517 - FG-GAP
IPR013519 - Int_alpha_beta-p
IPR000413 - Integrin_alpha
IPR013649 - Integrin_alpha-2
IPR018184 - Integrin_alpha_C_CS

Pfam Domains:
PF01839 - FG-GAP repeat
PF00357 - Integrin alpha cytoplasmic region
PF08441 - Integrin alpha

ModBase Predicted Comparative 3D Structure on P53708
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046872 metal ion binding

Biological Process:
GO:0001656 metanephros development
GO:0001822 kidney development
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007420 brain development
GO:0007613 memory
GO:0030030 cell projection organization
GO:0030154 cell differentiation
GO:0030198 extracellular matrix organization
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0034446 substrate adhesion-dependent cell spreading
GO:0042472 inner ear morphogenesis
GO:0045184 establishment of protein localization
GO:0048333 mesodermal cell differentiation
GO:0048745 smooth muscle tissue development
GO:0098609 cell-cell adhesion
GO:2000721 positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0008305 integrin complex
GO:0009986 cell surface
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032591 dendritic spine membrane
GO:0034678 integrin alpha8-beta1 complex
GO:0043204 perikaryon
GO:0045177 apical part of cell

-  Descriptions from all associated GenBank mRNAs
  L36531 - Homo sapiens integrin alpha 8 subunit mRNA, 3' end.
AK297740 - Homo sapiens cDNA FLJ54639 partial cds, highly similar to Integrin alpha-8 precursor.
BC148352 - Synthetic construct Homo sapiens clone IMAGE:100015316, MGC:182984 integrin, alpha 8 (ITGA8) mRNA, encodes complete protein.
AB587331 - Synthetic construct DNA, clone: pF1KB7338, Homo sapiens ITGA8 gene for integrin, alpha 8, without stop codon, in Flexi system.
DQ575213 - Homo sapiens piRNA piR-43325, complete sequence.
JD167663 - Sequence 148687 from Patent EP1572962.
JD042224 - Sequence 23248 from Patent EP1572962.
JD101919 - Sequence 82943 from Patent EP1572962.
JD481348 - Sequence 462372 from Patent EP1572962.
JD102553 - Sequence 83577 from Patent EP1572962.
JD142007 - Sequence 123031 from Patent EP1572962.
JD370219 - Sequence 351243 from Patent EP1572962.
JD409557 - Sequence 390581 from Patent EP1572962.
JD495574 - Sequence 476598 from Patent EP1572962.
AK308240 - Homo sapiens cDNA, FLJ98188.
JD275156 - Sequence 256180 from Patent EP1572962.
JD240787 - Sequence 221811 from Patent EP1572962.
JD488879 - Sequence 469903 from Patent EP1572962.
JD552801 - Sequence 533825 from Patent EP1572962.
JD363094 - Sequence 344118 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction
hsa04514 - Cell adhesion molecules (CAMs)
hsa04810 - Regulation of actin cytoskeleton
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

Reactome (by CSHL, EBI, and GO)

Protein P53708 (Reactome details) participates in the following event(s):

R-HSA-216061 SPP1 (osteopontin) binds integrin alpha8beta1
R-HSA-216064 Interaction of integrin alpha8beta1 with Tenascin-C
R-HSA-2395320 Latent TGF-beta-1 binds integrins
R-HSA-2681667 TNC binds Integrin alphaVbeta3, alphaVbeta6, alpha2beta1, alpha7beta1, alpha8beta1, alpha9beta1, alphaXbeta1
R-HSA-216050 Integrins alpha4beta1, alpha8beta1, alphaVbeta1, alphaVbeta3, alphaVbeta6 bind Fibronectin matrix
R-HSA-2467436 AGRN binds Integrins alphaVbeta1 (Other beta1-containing integrins)
R-HSA-216083 Integrin cell surface interactions
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-3000178 ECM proteoglycans
R-HSA-1474244 Extracellular matrix organization
R-HSA-1566948 Elastic fibre formation

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJ31, ENST00000378076.1, ENST00000378076.2, ENST00000378076.3, ITA8_HUMAN, NM_003638, P53708, Q5VX94, uc001ioc.1, uc001ioc.2, uc001ioc.3
UCSC ID: ENST00000378076.4
RefSeq Accession: NM_003638
Protein: P53708 (aka ITA8_HUMAN)
CCDS: CCDS31155.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.