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Aliases for ITGA8 Gene

Aliases for ITGA8 Gene

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

External Ids for ITGA8 Gene

Previous GeneCards Identifiers for ITGA8 Gene

  • GC10M015541
  • GC10M015709
  • GC10M015563
  • GC10M015599

Summaries for ITGA8 Gene

Entrez Gene Summary for ITGA8 Gene

  • 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]

GeneCards Summary for ITGA8 Gene

ITGA8 (Integrin Subunit Alpha 8) is a Protein Coding gene. Diseases associated with ITGA8 include Renal Hypodysplasia/Aplasia 1 and Renal Hypodysplasia. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and ECM proteoglycans. An important paralog of this gene is ITGAV.

UniProtKB/Swiss-Prot for ITGA8 Gene

  • 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.

Gene Wiki entry for ITGA8 Gene

Additional gene information for ITGA8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA8 Gene

Genomics for ITGA8 Gene

Regulatory Elements for ITGA8 Gene

Enhancers for ITGA8 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
GH10H015747 0.6 ENCODE dbSUPER 12.7 -27.8 -27838 1 SCRT2 ITGA8 LOC101928678 MINDY3
GH10H015751 0.5 dbSUPER 12.7 -31.1 -31077 0 CREB1 ATF2 ZNF18 ITGA8 LOC101928678 MINDY3
GH10H015533 0.3 FANTOM5 6.7 +186.6 186631 0 ITGA8 GC10M015473 GC10P015618
GH10H015718 0.9 ENCODE 0.7 +1.0 1032 2 ZNF76 KLF17 FEZF1 ZNF2 GLIS2 ZNF366 EGR2 ZEB2 ZNF398 ZNF843 HSPA14 RPP38 ITGA8 GC10P015618
GH10H015725 0.9 ENCODE 0.4 -5.5 -5532 0 HDAC1 ATF1 ZNF2 RAD21 GATA2 ZNF143 ATF7 EGR2 ZNF654 ZEB2 ITGA8 LOC101928678
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGA8 on UCSC Golden Path with GeneCards custom track

Promoters for ITGA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000024972 535 401 ZSCAN5A CTCF SUZ12 ZIC2 ZFHX2 GLIS2 ZBTB48 PATZ1 PRDM10 ZBTB20

Genomic Location for ITGA8 Gene

Chromosome:
10
Start:
15,513,949 bp from pter
End:
15,720,335 bp from pter
Size:
206,387 bases
Orientation:
Minus strand

Genomic View for ITGA8 Gene

Genes around ITGA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA8 Gene

Proteins for ITGA8 Gene

  • Protein details for ITGA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53708-ITA8_HUMAN
    Recommended name:
    Integrin alpha-8
    Protein Accession:
    P53708
    Secondary Accessions:
    • B0YJ31
    • Q5VX94

    Protein attributes for ITGA8 Gene

    Size:
    1063 amino acids
    Molecular mass:
    117474 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-8 associates with beta-1.

neXtProt entry for ITGA8 Gene

Post-translational modifications for ITGA8 Gene

  • Glycosylation at isoforms=81, isoforms=122, posLast=177177, isoforms=239, posLast=302302, isoforms=311, isoforms=504, posLast=601601, posLast=605605, isoforms=719, posLast=737737, isoforms=753, isoforms=780, posLast=896896, posLast=923923, and isoforms=1005
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITGA8 Gene

Domains & Families for ITGA8 Gene

Gene Families for ITGA8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ITGA8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53708

UniProtKB/Swiss-Prot:

ITA8_HUMAN :
  • Belongs to the integrin alpha chain family.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGA8: view

Function for ITGA8 Gene

Molecular function for ITGA8 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ITGA8 Gene

Gene Ontology (GO) - Molecular Function for ITGA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ITGA8: view
genes like me logo Genes that share phenotypes with ITGA8: view

Human Phenotype Ontology for ITGA8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGA8 Gene

MGI Knock Outs for ITGA8:

Animal Model Products

CRISPR Products

miRNA for ITGA8 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ITGA8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITGA8 Gene

Localization for ITGA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA8 Gene

Membrane; Single-pass type I membrane protein. Cell membrane.

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 ITGA8 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ITGA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 24439109
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0008305 integrin complex TAS 7768999
GO:0009986 cell surface IDA 24439109
genes like me logo Genes that share ontologies with ITGA8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGA8 Gene

Pathways & Interactions for ITGA8 Gene

genes like me logo Genes that share pathways with ITGA8: view

Gene Ontology (GO) - Biological Process for ITGA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001656 metanephros development IEA --
GO:0001822 kidney development IMP 24439109
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion NAS 7768999
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with ITGA8: view

No data available for SIGNOR curated interactions for ITGA8 Gene

Drugs & Compounds for ITGA8 Gene

No Compound Related Data Available

Transcripts for ITGA8 Gene

mRNA/cDNA for ITGA8 Gene

Unigene Clusters for ITGA8 Gene

Integrin, alpha 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ITGA8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA8 Gene

No ASD Table

Relevant External Links for ITGA8 Gene

GeneLoc Exon Structure for
ITGA8
ECgene alternative splicing isoforms for
ITGA8

Expression for ITGA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGA8 Gene

This gene is overexpressed in Artery - Aorta (x18.0), Artery - Coronary (x9.1), Artery - Tibial (x6.0), and Esophagus - Gastroesophageal Junction (x5.1).

Protein differential expression in normal tissues from HIPED for ITGA8 Gene

This gene is overexpressed in Liver (24.6), Urinary Bladder (9.3), Fetal gut (7.8), and Prostate (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITGA8 Gene



NURSA nuclear receptor signaling pathways regulating expression of ITGA8 Gene:

ITGA8

SOURCE GeneReport for Unigene cluster for ITGA8 Gene:

Hs.171311

mRNA Expression by UniProt/SwissProt for ITGA8 Gene:

P53708-ITA8_HUMAN
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).

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • placenta
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • foot
  • lower limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with ITGA8: view

Primer Products

No data available for Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for ITGA8 Gene

Orthologs for ITGA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA8 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia ITGA8 33 34
  • 89.36 (n)
dog
(Canis familiaris)
Mammalia ITGA8 33 34
  • 88.97 (n)
mouse
(Mus musculus)
Mammalia Itga8 33 16 34
  • 86.03 (n)
rat
(Rattus norvegicus)
Mammalia Itga8 33
  • 85.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGA8 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA8 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGA8 33 34
  • 76.16 (n)
lizard
(Anolis carolinensis)
Reptilia ITGA8 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga8 33
  • 70.86 (n)
zebrafish
(Danio rerio)
Actinopterygii itga8 34
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta if 33 34
  • 45.31 (n)
scb 35
  • 27 (a)
alphaPS4 35
  • 26 (a)
alphaPS5 35
  • 26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000032 33
  • 45.09 (n)
worm
(Caenorhabditis elegans)
Secernentea pat-2 33 34
  • 45.93 (n)
Species where no ortholog for ITGA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for ITGA8 Gene

ENSEMBL:
Gene Tree for ITGA8 (if available)
TreeFam:
Gene Tree for ITGA8 (if available)

Paralogs for ITGA8 Gene

(3) SIMAP similar genes for ITGA8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ITGA8: view

Variants for ITGA8 Gene

Sequence variations from dbSNP and Humsavar for ITGA8 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs374664941 Pathogenic, Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830] 15,644,210(+) CACTC(C/T)GATGG reference, missense
rs587777281 Uncertain significance, Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830] 15,672,662(+) CTTCC(A/G)TCTGC reference, missense
rs587777279 Pathogenic 15,531,048(+) TACTC(A/G)CTACT splice-donor-variant
rs587777280 Pathogenic 15,607,815(+) AATTG(-/CACCT)CTGCC reference, frameshift-variant
rs1000041388 -- 15,609,818(+) CCTAT(A/T)TGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITGA8 Gene

Variant ID Type Subtype PubMed ID
dgv38n21 CNV gain 19592680
dgv679n100 CNV gain 25217958
dgv680n100 CNV gain 25217958
dgv98e214 CNV gain 21293372
esv2498205 CNV deletion 19546169
esv2656916 CNV deletion 23128226
esv2760135 CNV loss 21179565
esv32914 CNV gain 17666407
esv3622450 CNV loss 21293372
nsv1069025 CNV deletion 25765185
nsv516700 CNV loss 19592680
nsv523569 CNV gain 19592680
nsv524808 CNV gain 19592680
nsv831795 CNV gain 17160897

Variation tolerance for ITGA8 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGA8 Gene

Human Gene Mutation Database (HGMD)
ITGA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA8 Gene

Disorders for ITGA8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ITGA8 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
renal hypodysplasia/aplasia 1
  • renal agenesis
renal hypodysplasia
  • renal hypoplasia, isolated
fraser syndrome 1
  • fraser syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ITGA8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITA8_HUMAN
  • Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830]: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. {ECO:0000269 PubMed:24439109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITGA8

Genetic Association Database (GAD)
ITGA8
Human Genome Epidemiology (HuGE) Navigator
ITGA8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGA8
genes like me logo Genes that share disorders with ITGA8: view

No data available for Genatlas for ITGA8 Gene

Publications for ITGA8 Gene

  1. Sequence and tissue distribution of the human integrin alpha 8 subunit: a beta 1-associated alpha subunit expressed in smooth muscle cells. (PMID: 7768999) Schnapp LM … Pytela R (Journal of cell science 1995) 2 3 4 22 60
  2. A promoter polymorphism of the alpha 8 integrin gene and the progression of autosomal-dominant polycystic kidney disease. (PMID: 18277079) Zeltner R … Hartner A (Nephron. Clinical practice 2008) 3 22 45 60
  3. Genomic organization and sequence variation of the human integrin subunit alpha8 gene (ITGA8). (PMID: 15579315) Ekwa-Ekoka C … Schnapp LM (Matrix biology : journal of the International Society for Matrix Biology 2004) 3 4 22 60
  4. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. (PMID: 24439109) Humbert C … Jeanpierre C (American journal of human genetics 2014) 3 4 60
  5. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 45 60

Products for ITGA8 Gene

Sources for ITGA8 Gene

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