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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 Renal Cell Carcinoma, Papillary. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include receptor binding and extracellular matrix protein binding. An important paralog of this gene is ITGB6.

UniProtKB/Swiss-Prot for ITGB8 Gene

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

Gene Wiki entry for ITGB8 Gene

No data available for 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
GH07F020350 1.2 Ensembl ENCODE 18.3 +23.5 23542 5.8 TBP PKNOX1 INSM2 KLF17 FEZF1 BRCA1 RFX5 ZNF366 KLF7 FOS ITGB8 LOC101927811 ENSG00000200753 GC07P020377
GH07F020364 0.8 ENCODE 16.8 +35.8 35783 1.8 TBP SMARCC1 STAT1 TAF1 JUN CEBPB REST EP300 BRCA1 JUND ITGB8 LOC101927811 GC07P020377
GH07F020387 0.7 ENCODE 13.8 +58.2 58217 1.3 OSR2 FEZF1 ZNF843 WT1 ATF2 ZXDB ITGB8 ENSG00000200753 GC07P020414
GH07F020401 0.2 ENCODE 12.6 +73.1 73078 2.1 CTCF JUND SMARCA4 POLR2A ZFP64 SMC3 RAD21 ITGB8 LOC101927811 GC07P020414 ENSG00000200753
GH07F020177 0.3 FANTOM5 11.9 -151.9 -151892 0.3 ATF1 PKNOX1 ARNT CREB3L1 SIN3A ZNF766 ZNF143 FOS KLF13 TBX21 RPL23P8 ITGB8 TWISTNB MACC1 MACC1-AS1 LOC100506098
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ITGB8 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGB8 Gene

Chromosome:
7
Start:
20,329,803 bp from pter
End:
20,415,759 bp from pter
Size:
85,957 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. Beta-8 associates with alpha-V.

    Alternative splice isoforms for ITGB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB8 Gene

Post-translational modifications for ITGB8 Gene

  • Glycosylation at Asn 233, Asn 402, Asn 421, Asn 431, Asn 456, Asn 466, and Asn 648
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITGB8 Gene

Domains & Families for ITGB8 Gene

Gene Families for ITGB8 Gene

Suggested Antigen Peptide Sequences for ITGB8 Gene

Graphical View of Domain Structure for InterPro Entry

P26012

UniProtKB/Swiss-Prot:

ITB8_HUMAN :
  • Contains 1 VWFA domain.
  • Belongs to the integrin beta chain family.
Domain:
  • Contains 1 VWFA domain.
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.

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

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for ITGB8 Gene COMPARTMENTS Subcellular localization image for ITGB8 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 2

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

Activates:

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

Transcripts for ITGB8 Gene

Unigene Clusters for ITGB8 Gene

Integrin, beta 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - - -
SP3:
SP4:
SP5:

Relevant External Links for ITGB8 Gene

GeneLoc Exon Structure for
ITGB8
ECgene alternative splicing isoforms 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, 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:

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.
genes like me logo Genes that share expression patterns with ITGB8: view

Primer Products

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 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia ITGB8 34 35
  • 92.09 (n)
dog
(Canis familiaris)
Mammalia ITGB8 34 35
  • 91.79 (n)
rat
(Rattus norvegicus)
Mammalia Itgb8 34
  • 87.26 (n)
mouse
(Mus musculus)
Mammalia Itgb8 34 16 35
  • 86.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ITGB8 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB8 34 35
  • 72.35 (n)
lizard
(Anolis carolinensis)
Reptilia ITGB8 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb8 34
  • 65.08 (n)
zebrafish
(Danio rerio)
Actinopterygii itgb8 34 35
  • 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

ENSEMBL:
Gene Tree for ITGB8 (if available)
TreeFam:
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
rs1014038 -- 20,393,484(+) CCAGA(A/G)TGATC intron-variant
rs10215853 -- 20,376,621(+) CAAAC(C/T)AATGG intron-variant
rs10215885 -- 20,380,547(+) ATAAA(A/G)TTTCC intron-variant
rs10224046 -- 20,346,715(+) TTGAC(G/T)CCAGA intron-variant
rs10227329 -- 20,333,338(+) AAGTA(A/G)CATTC intron-variant, upstream-variant-2KB

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)

Relevant External Links for ITGB8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB8

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

Disorders for ITGB8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ITGB8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
renal cell carcinoma, papillary
  • renal cell carcinoma, papillary, 1
- 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)
ITGB8
Human Genome Epidemiology (HuGE) Navigator
ITGB8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB8
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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 Med Genomics 2008) 3 46 64
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64
  5. Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain. (PMID: 7525578) Nishimura S.L. … Pytela R. (J. Biol. Chem. 1994) 3 22 64

Products for ITGB8 Gene

Sources for ITGB8 Gene

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