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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... See more...
Aliases for ITGA8 Gene
Aliases for ITGA8 Gene
External Ids for ITGA8 Gene
- HGNC: 6144
- Entrez Gene: 8516
- Ensembl: ENSG00000077943
- OMIM: 604063
- UniProtKB: P53708
Previous GeneCards Identifiers for ITGA8 Gene
- GC10M015541
- GC10M015709
- GC10M015563
- GC10M015599
- GC10M015555
Summaries 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 Agenesis, Bilateral. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. An important paralog of this gene is ITGAV.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for ITGA8 Gene
- HGNC(6144)
- Entrez Gene(8516)
- Ensembl(ENSG00000077943)
- OMIM(604063)
- UniProtKB(P53708)
- Open Targets Platform(ENSG00000077943)
- Monarch Initiative
- Search for ITGA8 at DataMed
- Search for ITGA8 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGA8 Gene
Genomics for ITGA8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ITGA8 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J015718 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.2 | 1234 | 3 | CTCF TEAD4 PRDM10 ZNF692 ZIC2 ZSCAN4 PATZ1 EZH2 ZNF600 ZNF341 | ITGA8 HSPA14 RPP38 piR-59297-038 FAM171A1 | |
| GH10J015747 | Enhancer | 0.5 | ENCODE dbSUPER | 12.7 | -27.8 | -27837 | 1.5 | SCRT2 ATF4 | ITGA8 piR-50444-038 lnc-RPP38-6 MINDY3 | |
| GH10J015751 | Enhancer | 0.4 | dbSUPER | 12.7 | -31.1 | -31076 | 0.7 | CREB1 ATF2 ZNF18 SPI1 | piR-50444-038 ITGA8 lnc-RPP38-6 MINDY3 | |
| GH10J015695 | Enhancer | 0.4 | Ensembl | 12.1 | +24.3 | 24334 | 0.4 | ZBTB17 IKZF1 PKNOX1 | ITGA8 piR-59297-038 FAM171A1 | |
| GH10J015533 | Enhancer | 0.3 | FANTOM5 | 6.7 | +186.6 | 186630 | 0.3 | EZH2 | piR-31470-037 piR-58297-037 ITGA8 piR-57460-041 FAM171A1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ITGA8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGA8
- Top Transcription factor binding sites by QIAGEN in the ITGA8 gene promoter:
-
- aMEF-2
- AREB6
- ATF-2
- c-Myb
- CRE-BP1
- FOXD1
- GR
- GR-alpha
- MEF-2A
- RP58
Genomic Locations for ITGA8 Gene
Genomic Locations for ITGA8 Gene
- chr10:15,513,949-15,720,335
- (GRCh38/hg38)
- Size:
- 206,387 bases
- Orientation:
- Minus strand
- chr10:15,555,948-15,762,124
- (GRCh37/hg19)
- Size:
- 206,177 bases
- Orientation:
- Minus strand
Genomic View for ITGA8 Gene
Genes around ITGA8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p13 by HGNC
- 10p13 by Entrez Gene
- 10p13 by Ensembl
ITGA8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ITGA8 Gene
Post-translational modifications for ITGA8 Gene
Other Protein References for ITGA8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ITGA8 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ITGA8
- Novus Biologicals Antibodies for ITGA8
-
Abcam antibodies for ITGA8
- Invitrogen Antibodies for ITGA8 (AFLGC-ITGA8)
-
Boster Bio Antibodies for ITGA8
-
Santa Cruz Biotechnology (SCBT) Antibodies for ITGA8
Protein Products
-
OriGene Purified Proteins for ITGA8
- Search Origene for MassSpec and Protein Over-expression Lysates for ITGA8
- Origene Custom Protein Services for ITGA8
-
Abcam proteins for ITGA8
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
Protein Domains for ITGA8 Gene
- InterPro:
- Blocks:
-
- Integrins alpha chain
- Integrin alpha chain, C-terminal cytoplasmic region
- FG-GAP
- ProtoNet:
Suggested Antigen Peptide Sequences for ITGA8 Gene
- GenScript: Design optimal peptide antigens:
-
- Integrin alpha-8 (ITA8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P53708- Family:
-
- Belongs to the integrin alpha chain family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ITGA8 Gene
- MGI mutant phenotypes for ITGA8:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ITGA8:
Animal Models for ITGA8 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ITGA8 - Select products 50% OFF >
- * ITGA8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ITGA8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITGA8
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITGA8
miRNA for ITGA8 Gene
- miRTarBase miRNAs that target ITGA8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITGA8
- Browse OriGene Inhibitory RNA Products For ITGA8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA8
Clone Products
- Applied Biological Materials (abm): Clones for ITGA8 - Select products 50% OFF >
- * ITGA8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ITGA8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITGA8
Cell Line Products
-
Horizon Cell Lines for ITGA8
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA | 24439109 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005925 | focal adhesion | HDA | 21423176 |
| GO:0008305 | integrin complex | TAS | 7768999 |
| GO:0009986 | cell surface | IDA | 24439109 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGA8 Gene
Pathways & Interactions for ITGA8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | MAPK Erk Pathway |
.32
|
.32
|
| 2 | Apoptotic Pathways in Synovial Fibroblasts |
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
|
Actin-Based Motility by Rho Family GTPases
.62
Rap1 Pathway
.57
|
| 3 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
|
| 4 | Focal Adhesion |
.61
.61
|
HGF Pathway
.33
|
| 5 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
RhoA Pathway
.35
|
Pathways by source for ITGA8 Gene
9 Sino Biological pathways for ITGA8 Gene
3 BioSystems pathways for ITGA8 Gene
5 Reactome pathways for ITGA8 Gene
9 KEGG pathways for ITGA8 Gene
2 GeneGo (Thomson Reuters) pathways for ITGA8 Gene
- Cell adhesion PLAU signaling
- Cytoskeleton remodeling Integrin outside-in signaling
33 Qiagen pathways for ITGA8 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
Interacting Proteins for ITGA8 Gene
GPS-Prot Interaction Network for ITGA8
| 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 | -- |
No data available for SIGNOR curated interactions for ITGA8 Gene
Transcripts for ITGA8 Gene
mRNA/cDNA for ITGA8 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378076 6547 nts (view in UCSC)
- ENST00000468882 349 nts (view in UCSC)
- ENST00000477064 850 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ITGA8 - Select products 50% OFF >
- * ITGA8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ITGA8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITGA8
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITGA8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITGA8
- Browse OriGene Inhibitory RNA Products For ITGA8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA8
Clone Products
- Applied Biological Materials (abm): Clones for ITGA8 - Select products 50% OFF >
- * ITGA8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ITGA8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITGA8
Relevant External Links for ITGA8 Gene
- GeneLoc Exon Structure for
- ITGA8
Expression for ITGA8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- NULL (Uncategorized)
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Testis (Reproductive System)
- Testicular Interstitial Cells Testis Interstitium
- Spleen (Hematopoietic System)
- Blood (Cardiovascular System)
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
- Head Mesenchyme (Muscoskeletal System)
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).
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 and MOPED for ITGA8 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGA8
SOURCE GeneReport for Unigene cluster for ITGA8 Gene:
Hs.171311mRNA 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).
Evidence on tissue expression from TISSUES for ITGA8 Gene
- Heart(2.9)
- Kidney(2.5)
- Lung(2.3)
- Spleen(2.3)
- Muscle(2.2)
- Nervous system(2.2)
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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for ITGA8
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for ITGA8 Gene
Orthologs for ITGA8 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ITGA8 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ITGA8 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ITGA8 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Itga8 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Itga8 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ITGA8 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ITGA8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ITGA8 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ITGA8 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itga8 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | itga8 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | if 30 31 |
|
OneToMany | |
| scb 32 |
|
|
|||
| alphaPS4 32 |
|
|
|||
| alphaPS5 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000032 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | pat-2 30 31 |
|
OneToMany |
- Species where no ortholog for ITGA8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 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)
Evolution for ITGA8 Gene
- ENSEMBL:
- Gene Tree for ITGA8 (if available)
- TreeFam:
- Gene Tree for ITGA8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ITGA8: view image
Paralogs for ITGA8 Gene
Paralogs for ITGA8 Gene
Variants for ITGA8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGA8 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708079 | Benign: not provided | 15,659,046(-) | T/A | MISSENSE_VARIANT | |
| 709267 | Likely Benign: not provided | 15,660,882(-) | T/G | SYNONYMOUS_VARIANT | |
| 709564 | Benign: not provided | 15,586,604(-) | T/C | SYNONYMOUS_VARIANT | |
| 709864 | Benign: not provided | 15,592,273(-) | C/T | MISSENSE_VARIANT | |
| 709865 | Benign: not provided | 15,718,779(-) | C/T | SYNONYMOUS_VARIANT |
| 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 |
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)
Additional Variant Information for ITGA8 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA8 Gene
Disorders for ITGA8 Gene
(10) MalaCards diseases for ITGA8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| renal hypodysplasia/aplasia 1 |
|
|
| renal agenesis, bilateral |
|
|
| bilateral renal aplasia |
|
|
| juxtacortical chondrosarcoma |
|
|
| nephrotic syndrome, type 5, with or without ocular abnormalities |
|
|
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.
Additional Disease Information for ITGA8
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ITGA8 Gene
Publications for ITGA8 Gene
- 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 23
- 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 23 41
- 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 23
- 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
- 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 41
ExternalLinks
Products for ITGA8 Gene
- Custom Antibody ServicesOriGene Antibodies for ITGA8
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ITGA8
- Search Origene for MassSpec and Protein Over-expression Lysates for ITGA8
- Origene Custom Protein Services for ITGA8
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITGA8
- Browse OriGene Inhibitory RNA Products For ITGA8
- OriGene qPCR primer pairs for ITGA8
- OriGene CRISPR knockouts for ITGA8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ITGA8
- Sino Biological Human cDNA Clone for ITGA8
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ITGA8
- Novus Biologicals proteins and lysates for ITGA8
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ITGA8
- Abcam proteins for ITGA8
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for ITGA8 (AFLGC-ITGA8)
- VectorBuilder Custom and pre-made DNA vectors for ITGA8 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ITGA8 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ITGA8 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ITGA8 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ITGA8
- antibodies-online: Show 18 available Integrin alpha-8 / ITGA8 Antibodies ranked by validation data
- antibodies-online: Search results for available Integrin alpha-8 / ITGA8 related products ranked by validation data
- antibodies-online: Search results for available Integrin alpha-8 / ITGA8 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for ITGA8
- Search Santa Cruz Biotechnology (SCBT) for ITGA8 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ITGA8
- Horizon Cell Lines for ITGA8
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITGA8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITGA8
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ITGA8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA8
- Boster Bio Antibodies for ITGA8
- Browse Boster Bio ELISA Kits
Sources for ITGA8 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB