Human Gene ITGB8 (ENST00000222573.5_4) from GENCODE V47lift37
  Description: integrin subunit beta 8 (from RefSeq NM_002214.3)
Gencode Transcript: ENST00000222573.5_4
Gencode Gene: ENSG00000105855.10_7
Transcript (Including UTRs)
   Position: hg19 chr7:20,370,523-20,455,377 Size: 84,855 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr7:20,371,430-20,449,620 Size: 78,191 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:20,370,523-20,455,377)mRNA (may differ from genome)Protein (769 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITB8_HUMAN
DESCRIPTION: RecName: Full=Integrin beta-8; Flags: Precursor;
FUNCTION: Integrin alpha-V/beta-8 is a receptor for fibronectin.
SUBUNIT: Heterodimer of an alpha and a beta subunit. Beta-8 associates with alpha-V.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells.
SIMILARITY: Belongs to the integrin beta chain family.
SIMILARITY: Contains 1 VWFA domain.

-  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: ITGB8
Diseases sorted by gene-association score: arteriovenous malformation (8), pulmonary valve disease (5), renal cell carcinoma, papillary (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.97 RPKM in Nerve - Tibial
Total median expression: 216.06 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 -433.00907-0.477 Picture PostScript Text
3' UTR -1226.405757-0.213 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
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR013111 - EGF_extracell
IPR015812 - Integrin_bsu
IPR015442 - Integrin_bsu-8
IPR002369 - Integrin_bsu_N
IPR003659 - Plexin-like
IPR016201 - Plexin-like_fold
IPR002035 - VWF_A

Pfam Domains:
PF00362 - Integrin beta chain VWA domain
PF07974 - EGF-like domain
PF17205 - Integrin plexin domain

SCOP Domains:
69179 - Integrin domains
53300 - vWA-like
103575 - Plexin repeat
57196 - EGF/Laminin

ModBase Predicted Comparative 3D Structure on P26012
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0038023 signaling receptor activity
GO:1990430 extracellular matrix protein binding

Biological Process:
GO:0001573 ganglioside metabolic process
GO:0007155 cell adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0030198 extracellular matrix organization
GO:0045766 positive regulation of angiogenesis
GO:0051216 cartilage development
GO:0060674 placenta blood vessel development
GO:0007160 cell-matrix adhesion

Cellular Component:
GO:0005886 plasma membrane
GO:0008305 integrin complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034686 integrin alphav-beta8 complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK295044 - Homo sapiens cDNA FLJ60530 complete cds, highly similar to Integrin beta-8 precursor.
M73780 - Human integrin beta-8 subunit mRNA, complete cds.
BC002630 - Homo sapiens integrin, beta 8, mRNA (cDNA clone MGC:3946 IMAGE:3609490), complete cds.
JD428478 - Sequence 409502 from Patent EP1572962.
JD436624 - Sequence 417648 from Patent EP1572962.
JD395128 - Sequence 376152 from Patent EP1572962.
JD141604 - Sequence 122628 from Patent EP1572962.
JD141312 - Sequence 122336 from Patent EP1572962.
JD461895 - Sequence 442919 from Patent EP1572962.
BT006739 - Homo sapiens integrin, beta 8 mRNA, complete cds.
KJ901533 - Synthetic construct Homo sapiens clone ccsbBroadEn_10927 ITGB8 gene, encodes complete protein.
AB209429 - Homo sapiens mRNA for integrin, beta 8 variant protein.
JD469683 - Sequence 450707 from Patent EP1572962.
JD373148 - Sequence 354172 from Patent EP1572962.
JD499448 - Sequence 480472 from Patent EP1572962.
JD292277 - Sequence 273301 from Patent EP1572962.
JD188287 - Sequence 169311 from Patent EP1572962.
JD090034 - Sequence 71058 from Patent EP1572962.
JD352629 - Sequence 333653 from Patent EP1572962.
JD267617 - Sequence 248641 from Patent EP1572962.
BC042028 - Homo sapiens integrin, beta 8, mRNA (cDNA clone IMAGE:4794726).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P26012 (Reactome details) participates in the following event(s):

R-HSA-2395320 Latent TGF-beta-1 binds integrins
R-HSA-2396029 Latent TGF-beta-3 binds integrins
R-HSA-216076 VTN (vitronectin) binds Integrin alphaVbeta3, alphaVbeta5, alphaVbeta8
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-216083 Integrin cell surface interactions
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: A4D133, B4DHD4, ENST00000222573.1, ENST00000222573.2, ENST00000222573.3, ENST00000222573.4, ITB8_HUMAN, ITGB8 , NM_002214, P26012, uc317dff.1, uc317dff.2
UCSC ID: ENST00000222573.5_4
RefSeq Accession: NM_002214.3
Protein: P26012 (aka ITB8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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