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 hum... See more...

Aliases for ITGB8 Gene

Aliases for ITGB8 Gene

  • Integrin Subunit Beta 8 2 3 5
  • Integrin Beta-8 3 4
  • Integrin, Beta 8 2
  • ITGB8 5

External Ids for ITGB8 Gene

Previous GeneCards Identifiers for ITGB8 Gene

  • GC07P020015
  • GC07P020115
  • GC07P020143
  • GC07P020337
  • GC07P020370

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 Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and extracellular matrix protein binding. An important paralog of this gene is ITGB5.

UniProtKB/Swiss-Prot Summary for ITGB8 Gene

  • Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity).

Gene Wiki entry for ITGB8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGB8 Gene

Genomics for ITGB8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITGB8 Gene
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
GH07J020328 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.7 +2.1 2113 6.9 CTCF PRDM10 ZNF629 ZNF692 JUND FOXA1 LARP7 RFX1 RELA ZIC2 ENSG00000271133 ITGB8 LOC101927811 lnc-ABCB5-7 POLR1F ABCB5
GH07J020350 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.3 +23.4 23411 6.1 PRDM10 ZNF629 BACH1 ZIC2 REST ZNF561 CEBPB SP1 ZNF639 JUND ENSG00000271133 ITGB8 ENSG00000200753 RF01061-155 lnc-ABCB5-7 ABCB5
GH07J020364 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.9 +35.8 35766 1.8 CREB1 REST SMARCC1 BRCA1 SMARCA4 CEBPB JUN JUND DEK EP300 ITGB8 ENSG00000271133 ENSG00000200753 RF01061-155 ABCB5
GH07J020229 Enhancer 0.9 Ensembl ENCODE 11.7 -99.8 -99818 2.8 ZNF629 IKZF1 ETV6 JUND FOXA1 HDAC1 RFX1 CEBPB ESR1 CTBP1 ITGB8 MACC1 lnc-TMEM196-3 lnc-ITGB8-6
GH07J020401 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 12.7 +73.4 73391 2.8 CTCF ARID3A CREB1 POLR2A RAD21 SMARCA4 ITGB8 ENSG00000271133 lnc-ITGB8-5 ENSG00000200753 ABCB5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGB8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGB8

Top Transcription factor binding sites by QIAGEN in the ITGB8 gene promoter:
  • FOXO4
  • HEN1
  • NF-kappaB
  • NF-kappaB1
  • POU6F1 (c2)
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • TBP
  • TFIID

Genomic Locations for ITGB8 Gene

Genomic Locations for ITGB8 Gene
chr7:20,329,819-20,415,754
(GRCh38/hg38)
Size:
85,936 bases
Orientation:
Plus strand
chr7:20,370,325-20,455,382
(GRCh37/hg19)
Size:
85,058 bases
Orientation:
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:
    P26012-ITB8_HUMAN
    Recommended name:
    Integrin beta-8
    Protein Accession:
    P26012
    Secondary Accessions:
    • A4D133
    • B4DHD4

    Protein attributes for ITGB8 Gene

    Size:
    769 amino acids
    Molecular mass:
    85632 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit (PubMed:1918072). Beta-8 (ITGB8) associates with alpha-V (ITGAV) to form ITGAV:ITGB8 (PubMed:1918072, PubMed:22278742). ITGAV:ITGB8 interacts with TGFB1 (PubMed:22278742).

    Three dimensional structures from OCA and Proteopedia for ITGB8 Gene

    Alternative splice isoforms for ITGB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB8 Gene

Post-translational modifications for ITGB8 Gene

  • Glycosylation at Asn233, Asn402, Asn421, Asn431, Asn456, Asn466, and Asn648
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGB8 Gene

Domains & Families for ITGB8 Gene

Gene Families for ITGB8 Gene

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

Protein Domains for ITGB8 Gene

InterPro:
Blocks:
  • Von Willebrand factor type A domain signature
  • Integrin beta, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for ITGB8 Gene

GenScript: Design optimal peptide antigens:
  • Integrin beta (B4DHD4_HUMAN)
  • Integrin beta-8 (ITB8_HUMAN)
  • Integrin beta (Q9BUG9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26012

UniProtKB/Swiss-Prot:

ITB8_HUMAN :
  • Belongs to the integrin beta chain family.
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

UniProtKB/Swiss-Prot Function:
Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity).
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

Phenotypes From GWAS Catalog for ITGB8 Gene

Gene Ontology (GO) - Molecular Function for ITGB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005178 integrin binding IBA 21873635
GO:0038023 signaling receptor activity 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

CRISPR Products

miRNA for ITGB8 Gene

miRTarBase miRNAs that target ITGB8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB8

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

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
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 4
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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:0005925 focal adhesion IBA 21873635
GO:0008305 integrin complex TAS 1918072
GO:0009986 cell surface IDA 1918072
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ITGB8: view

Pathways & Interactions for ITGB8 Gene

PathCards logo

SuperPathways for ITGB8 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
2 ERK Signaling
.61
.61
.58
.51
.49
3 Integrin Pathway
.67
.67
.56
.56
.38
4 Focal Adhesion
.33
5 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
.35
genes like me logo Genes that share pathways with ITGB8: view

Pathways by source for ITGB8 Gene

34 Qiagen pathways for ITGB8 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Akt Signaling
  • Calpain Protease Regulates Cellular Mechanics

SIGNOR curated interactions for ITGB8 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ITGB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IMP 12050137
GO:0001573 ganglioside metabolic process IEA --
GO:0007155 cell adhesion TAS 1918072
GO:0007160 NOT cell-matrix adhesion IEA,IMP 7525578
GO:0007229 integrin-mediated signaling pathway IBA 21873635
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

mRNA/cDNA for ITGB8 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGB8

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: - - -
SP3:
SP4:
SP5:

Relevant External Links for ITGB8 Gene

GeneLoc Exon Structure for
ITGB8

Expression for ITGB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ITGB8 Gene



Protein tissue co-expression partners for ITGB8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGB8

SOURCE GeneReport for Unigene cluster for ITGB8 Gene:

Hs.592171

mRNA Expression by UniProt/SwissProt for ITGB8 Gene:

P26012-ITB8_HUMAN
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(4.7)
  • Kidney(2.7)
  • Heart(2.5)
  • Blood(2.3)
  • Muscle(2.2)
  • Skin(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with ITGB8: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ITGB8 30 31
  • 99.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ITGB8 30 31
  • 92.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITGB8 30 31
  • 91.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itgb8 30
  • 87.26 (n)
Mouse
(Mus musculus)
Mammalia Itgb8 30 17 31
  • 86.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ITGB8 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ITGB8 30 31
  • 72.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITGB8 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itgb8 30
  • 65.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii itgb8 30 31
  • 54.58 (n)
OneToOne
Species where no ortholog for ITGB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for ITGB8 (if available)
TreeFam:
Gene Tree for ITGB8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITGB8: view image

Paralogs for ITGB8 Gene

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

  • ITB8_HUMAN
  • B4DHD4_HUMAN
  • Q9BUG9_HUMAN
genes like me logo Genes that share paralogs with ITGB8: view

Variants for ITGB8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGB8 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs5002476 - p.Ser552Phe

Additional dbSNP identifiers (rs#s) for ITGB8 Gene

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

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

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)

Additional Variant Information for ITGB8 Gene

Human Gene Mutation Database (HGMD)
ITGB8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB8

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITGB8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ITGB8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arteriovenous malformation
  • arteriovenous hemangioma
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search ITGB8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITGB8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 41
  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 41
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4
  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 23

Products for ITGB8 Gene

Sources for ITGB8 Gene