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Aliases for ITGB8 Gene

Aliases for ITGB8 Gene

  • Integrin Subunit Beta 8 2 3 5
  • Integrin, Beta 8 2

External Ids for ITGB8 Gene

Previous GeneCards Identifiers for ITGB8 Gene

  • GC07P020015
  • GC07P020115
  • GC07P020143
  • GC07P020337

Summaries for ITGB8 Gene

Entrez Gene Summary for ITGB8 Gene

  • This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITGB8 Gene

ITGB8 (Integrin Subunit Beta 8) is a Protein Coding gene. Diseases associated with ITGB8 include Arteriovenous Malformation and Pulmonary Valve Disease. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Elastic fibre formation. GO annotations related to this gene include receptor binding and extracellular matrix protein binding. An important paralog of this gene is LINC02478.

UniProtKB/Swiss-Prot for ITGB8 Gene

  • Integrin alpha-V/beta-8 is a receptor for fibronectin.

Gene Wiki entry for ITGB8 Gene

Additional gene information for ITGB8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB8 Gene

Genomics for ITGB8 Gene

Regulatory Elements for ITGB8 Gene

Enhancers for ITGB8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H020350 1.4 Ensembl ENCODE dbSUPER 18.3 +23.5 23542 5.8 TBP PKNOX1 NFIB INSM2 KLF17 FEZF1 BRCA1 RFX5 ZNF366 ZSCAN5C LOC101927811 ITGB8 ENSG00000200753 GC07P020377
GH07H020364 0.9 ENCODE dbSUPER 16.8 +35.8 35783 1.8 TBP STAT1 SMARCC1 JUN CEBPB REST EP300 BRCA1 ATF2 JUND ITGB8 LOC101927811 GC07P020377
GH07H020229 1 Ensembl ENCODE 11.7 -99.5 -99527 1.3 HDAC1 JUN MAX CEBPG FOSL1 FOS ETV6 SMARCE1 RFX1 HLF ITGB8 MACC1 LOC101927769
GH07H020387 0.6 ENCODE 13.8 +58.2 58217 1.3 OSR2 PRDM6 FEZF1 ZNF843 WT1 ATF2 ZXDB ITGB8 ENSG00000200753 GC07P020414
GH07H020328 1.3 ENCODE dbSUPER 4.9 +1.7 1720 6.1 HDGF PKNOX1 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 FOS ATF7 RUNX3 TWISTNB LOC101927811 ITGB8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGB8 on UCSC Golden Path with GeneCards custom track

Promoters for ITGB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209242 1897 4601 HDGF PKNOX1 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 FOS ATF7 RUNX3

Genomic Locations for ITGB8 Gene

Genomic Locations for ITGB8 Gene
85,957 bases
Plus strand

Genomic View for ITGB8 Gene

Genes around ITGB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB8 Gene

Proteins for ITGB8 Gene

  • Protein details for ITGB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Integrin beta-8
    Protein Accession:
    Secondary Accessions:
    • A4D133
    • B4DHD4

    Protein attributes for ITGB8 Gene

    769 amino acids
    Molecular mass:
    85632 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Beta-8 associates with alpha-V.

    Alternative splice isoforms for ITGB8 Gene


neXtProt entry for ITGB8 Gene

Post-translational modifications for ITGB8 Gene

  • Glycosylation at posLast=233233, isoforms=2402, isoforms=2421, isoforms=2431, posLast=456456, isoforms=2466, and posLast=648648
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ITGB8 (Integrin beta 8)
  • Cloud-Clone Corp. Antibodies for ITGB8

No data available for DME Specific Peptides for ITGB8 Gene

Domains & Families for ITGB8 Gene

Gene Families for ITGB8 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ITGB8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the integrin beta chain family.
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB8: view

Function for ITGB8 Gene

Molecular function for ITGB8 Gene

GENATLAS Biochemistry:
integrin,beta 8,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
UniProtKB/Swiss-Prot Function:
Integrin alpha-V/beta-8 is a receptor for fibronectin.

Phenotypes From GWAS Catalog for ITGB8 Gene

Gene Ontology (GO) - Molecular Function for ITGB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0005102 receptor binding IEA --
GO:1990430 extracellular matrix protein binding IDA 7525578
genes like me logo Genes that share ontologies with ITGB8: view
genes like me logo Genes that share phenotypes with ITGB8: view

Animal Models for ITGB8 Gene

MGI Knock Outs for ITGB8:

Animal Model Products

miRNA for ITGB8 Gene

miRTarBase miRNAs that target ITGB8

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITGB8 Gene

Localization for ITGB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB8 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGB8 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITGB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex TAS 1918072
GO:0009986 cell surface IDA 1918072
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ITGB8: view

Pathways & Interactions for ITGB8 Gene

genes like me logo Genes that share pathways with ITGB8: view

SIGNOR curated interactions for ITGB8 Gene


Gene Ontology (GO) - Biological Process for ITGB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001573 ganglioside metabolic process IEA --
GO:0007155 cell adhesion TAS 1918072
GO:0007160 NOT cell-matrix adhesion IMP 7525578
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0010628 positive regulation of gene expression IMP 24312400
genes like me logo Genes that share ontologies with ITGB8: view

Drugs & Compounds for ITGB8 Gene

No Compound Related Data Available

Transcripts for ITGB8 Gene

Unigene Clusters for ITGB8 Gene

Integrin, beta 8:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - -
SP2: - - -

Relevant External Links for ITGB8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ITGB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB8 Gene

This gene is overexpressed in Nerve - Tibial (x10.7) and Minor Salivary Gland (x4.5).

Protein differential expression in normal tissues from HIPED for ITGB8 Gene

This gene is overexpressed in Frontal cortex (17.6), Testis (14.1), Brain (12.3), and Fetal Brain (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITGB8 Gene

Protein tissue co-expression partners for ITGB8 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITGB8 Gene:


SOURCE GeneReport for Unigene cluster for ITGB8 Gene:


mRNA Expression by UniProt/SwissProt for ITGB8 Gene:

Tissue specificity: Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells.

Evidence on tissue expression from TISSUES for ITGB8 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ITGB8: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB8 Gene

Orthologs for ITGB8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGB8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ITGB8 33 34
  • 99.44 (n)
(Bos Taurus)
Mammalia ITGB8 33 34
  • 92.09 (n)
(Canis familiaris)
Mammalia ITGB8 33 34
  • 91.79 (n)
(Rattus norvegicus)
Mammalia Itgb8 33
  • 87.26 (n)
(Mus musculus)
Mammalia Itgb8 33 16 34
  • 86.44 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
-- 34
  • 67 (a)
(Monodelphis domestica)
Mammalia ITGB8 34
  • 79 (a)
(Gallus gallus)
Aves ITGB8 33 34
  • 72.35 (n)
(Anolis carolinensis)
Reptilia ITGB8 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb8 33
  • 65.08 (n)
(Danio rerio)
Actinopterygii itgb8 33 34
  • 54.58 (n)
Species where no ortholog for ITGB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITGB8 Gene

Gene Tree for ITGB8 (if available)
Gene Tree for ITGB8 (if available)

Paralogs for ITGB8 Gene

(7) SIMAP similar genes for ITGB8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ITGB8: view

Variants for ITGB8 Gene

Sequence variations from dbSNP and Humsavar for ITGB8 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000024208 -- 20,354,226(+) ATAAA(G/T)AAAAT intron-variant
rs1000045034 -- 20,405,133(+) GATCT(C/T)GGACA intron-variant
rs1000054011 -- 20,365,044(+) TAACA(C/T)GTTAG intron-variant
rs1000098888 -- 20,358,806(+) GATCC(A/G/T)ATCTC intron-variant
rs1000122336 -- 20,366,292(+) TTTCA(A/C)AGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITGB8 Gene

Variant ID Type Subtype PubMed ID
nsv971192 CNV deletion 23825009
nsv606366 CNV loss 21841781
nsv523878 CNV loss 19592680
nsv365438 CNV deletion 16902084
esv3612488 CNV loss 21293372
esv3612487 CNV loss 21293372
dgv231n6 CNV deletion 16902084
dgv230n6 CNV deletion 16902084

Variation tolerance for ITGB8 Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB8 Gene

Disorders for ITGB8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ITGB8 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arteriovenous malformation
  • arteriovenous hemangioma
pulmonary valve disease
  • pulmonary valve disorder
renal cell carcinoma, papillary
  • renal cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search ITGB8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITGB8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ITGB8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGB8 Gene

Publications for ITGB8 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma. (PMID: 18549475) Blons H … Laurent-Puig P (BMC medical genomics 2008) 3 45 60
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60
  5. Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain. (PMID: 7525578) Nishimura SL … Pytela R (The Journal of biological chemistry 1994) 3 22 60

Products for ITGB8 Gene

Sources for ITGB8 Gene

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