The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with... See more...

Aliases for ITGA4 Gene

Aliases for ITGA4 Gene

  • Integrin Subunit Alpha 4 2 3 5
  • Alpha 4 Subunit Of VLA-4 Receptor 2 3
  • CD49 Antigen-Like Family Member D 3 4
  • VLA-4 Subunit Alpha 3 4
  • Integrin Alpha-IV 3 4
  • Integrin Alpha-4 3 4
  • CD49D 3 4
  • Integrin, Alpha 4 (Antigen CD49D, Alpha 4 Subunit Of VLA-4 Receptor) 2
  • Very Late Activation Protein 4 Receptor, Alpha 4 Subunit 3
  • Antigen CD49D, Alpha-4 Subunit Of VLA-4 Receptor 3
  • 269C Wild Type 3
  • CD49d Antigen 4
  • Antigen CD49D 2
  • IA4 3

External Ids for ITGA4 Gene

Previous HGNC Symbols for ITGA4 Gene

  • CD49D

Previous GeneCards Identifiers for ITGA4 Gene

  • GC02P180528
  • GC02P181004
  • GC02P182285
  • GC02P182524
  • GC02P182525
  • GC02P182146
  • GC02P182029
  • GC02P174178

Summaries for ITGA4 Gene

Entrez Gene Summary for ITGA4 Gene

  • The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for ITGA4 Gene

ITGA4 (Integrin Subunit Alpha 4) is a Protein Coding gene. Diseases associated with ITGA4 include Progressive Multifocal Leukoencephalopathy and Breast Sarcoma. Among its related pathways are MAPK-Erk Pathway and Paxillin-dependent events mediated by a4b1. Gene Ontology (GO) annotations related to this gene include cell adhesion molecule binding and fibronectin binding. An important paralog of this gene is ITGA9.

UniProtKB/Swiss-Prot Summary for ITGA4 Gene

  • Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions with target cells. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGA4:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877).

Tocris Summary for ITGA4 Gene

  • Integrins are ubiquitously expressed adhesion molecules. They are cell-surface receptors that exist as heterodimers of alpha and beta subunits. Under physiological conditions, integrins are highly glycosylated and contain a Ca2+ or Mg2+ ion, which is essential for ligand binding.

Gene Wiki entry for ITGA4 Gene

Additional gene information for ITGA4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGA4 Gene

Genomics for ITGA4 Gene

GeneHancer (GH) Regulatory Elements for ITGA4 Gene

Promoters and enhancers for ITGA4 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
GH02J181454 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 761.3 +4.8 4835 13.7 ZNF24 SP1 CTCF HDAC2 ZNF362 MYC ETV6 MAX RAD21 NKRF ITGA4 CERKL NONHSAG029997.2 HSALNG0020792
GH02J181498 Promoter 0.4 EPDnew 761.3 +41.8 41751 0.1 SCRT2 ITGA4 HSALNG0020792 NONHSAG029997.2
GH02J181303 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.1 -147.2 -147226 11.6 ZNF24 SP1 LCORL MLX RBPJ NR2F1 ATF1 NR2F6 CREB1 ZNF362 ITGA4 UBE2E3 MIR4437 piR-31292-100 LINC01934
GH02J181392 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 19.8 -62.4 -62419 3 HLF MAX MLLT1 PRDM10 IRF2 JUN ATF7 ZNF217 ITGA4 CERKL piR-31292-100 MIR4437 LINC01934
GH02J181374 Enhancer 0.9 UCNEbase Ensembl 16.6 -80.9 -80891 2.8 ETV6 ZBED1 IKZF1 POLR2A IKZF2 EED BCL11A RUNX3 JUNB RCOR1 ITGA4 CERKL UBE2E3 piR-31292-100 MIR4437 LINC01934
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITGA4 gene promoter:
  • CREB
  • deltaCREB
  • Ik-2
  • IRF-2
  • Pax-4a
  • POU2F1
  • RSRFC4
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for ITGA4 Gene

Genomic Locations for ITGA4 Gene
chr2:181,456,892-181,538,940
(GRCh38/hg38)
Size:
82,049 bases
Orientation:
Plus strand
chr2:182,321,619-182,402,474
(GRCh37/hg19)
Size:
80,856 bases
Orientation:
Plus strand

Genomic View for ITGA4 Gene

Genes around ITGA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA4 Gene

Proteins for ITGA4 Gene

  • Protein details for ITGA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13612-ITA4_HUMAN
    Recommended name:
    Integrin alpha-4
    Protein Accession:
    P13612
    Secondary Accessions:
    • D3DPG4
    • Q7Z4L6

    Protein attributes for ITGA4 Gene

    Size:
    1032 amino acids
    Molecular mass:
    114900 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit can sometimes be cleaved into two non-covalently associated fragments. Alpha-4 associates with either beta-1 or beta-7. Alpha-4 interacts with PXN, LPXN, and TGFB1I1/HIC5. Interacts with CSPG4 through CSPG4 chondroitin sulfate glycosaminoglycan. Interacts with JAML; integrin alpha-4/beta-1 may regulate leukocyte to endothelial cells adhesion by controlling JAML homodimerization. ITGA4:ITGB1 is found in a ternary complex with CX3CR1 and CX3CL1 (PubMed:23125415). Interacts with MDK (PubMed:15466886). ITGA4:ITGB1 interacts with MDK; this interaction mediates MDK-induced osteoblast cells migration through PXN phosphorylation (PubMed:15466886).
    SequenceCaution:
    • Sequence=AAB59613.1; Type=Frameshift; Positions=13; Evidence={ECO:0000305}; Sequence=CAA34852.1; Type=Frameshift; Positions=13; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ITGA4 Gene

    Alternative splice isoforms for ITGA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGA4 Gene

Post-translational modifications for ITGA4 Gene

  • Phosphorylation on Ser-1027 inhibits PXN binding.
  • Glycosylation at Asn79, Asn138, Asn229, Asn480, Asn518, Asn538, Asn626, Asn645, Asn660, Asn806, and Asn821
  • Ubiquitination at Lys95, Lys116, Lys149, Lys190, Lys241, Lys280, Lys289, Lys363, Lys590, Lys614, Lys760, Lys771, Lys867, Lys892, and Lys1028
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA4 Gene

Antibody Products

No data available for DME Specific Peptides for ITGA4 Gene

Domains & Families for ITGA4 Gene

Gene Families for ITGA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ITGA4 Gene

GenScript: Design optimal peptide antigens:
  • VLA-4 subunit alpha (ITA4_HUMAN)
  • Alpha-4 integrin (Q13682_HUMAN)
  • ITGA4 protein (Q68EM9_HUMAN)
  • ITGA4 protein (Q6PJE7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13612

UniProtKB/Swiss-Prot:

ITA4_HUMAN :
  • The SG1 motif is involved in binding to chondroitin sulfate glycosaminoglycan and cell adhesion.
  • Belongs to the integrin alpha chain family.
Domain:
  • The SG1 motif is involved in binding to chondroitin sulfate glycosaminoglycan and cell adhesion.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGA4: view

Function for ITGA4 Gene

Molecular function for ITGA4 Gene

UniProtKB/Swiss-Prot Function:
Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions with target cells. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGA4:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877).
GENATLAS Biochemistry:
integrin,alpha 4,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,component of VLA-4 receptor,dimerizing with ITGB1 or ITGB7 in fibronectin,VCAM1 receptors

Phenotypes From GWAS Catalog for ITGA4 Gene

Gene Ontology (GO) - Molecular Function for ITGA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IEA --
GO:0003823 antigen binding IEA --
GO:0005515 protein binding IPI 1542691
GO:0015026 coreceptor activity TAS 23125415
GO:0019960 contributes_to C-X3-C chemokine binding IDA 23125415
genes like me logo Genes that share ontologies with ITGA4: view
genes like me logo Genes that share phenotypes with ITGA4: view

Animal Models for ITGA4 Gene

MGI Knock Outs for ITGA4:

Animal Model Products

CRISPR Products

miRNA for ITGA4 Gene

miRTarBase miRNAs that target ITGA4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA4

Clone Products

  • Addgene plasmids for ITGA4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITGA4 Gene

Localization for ITGA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA4 Gene

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 ITGA4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ITGA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005925 focal adhesion HDA 21423176
GO:0008305 integrin complex IEA --
GO:0009986 cell surface IEA,IDA 1715889
GO:0016020 membrane HDA,IEA 19946888
genes like me logo Genes that share ontologies with ITGA4: view

Pathways & Interactions for ITGA4 Gene

PathCards logo

SuperPathways for ITGA4 Gene

SuperPathway Contained pathways
1 MAPK-Erk Pathway
2 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
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 ITGA4: view

Pathways by source for ITGA4 Gene

2 Tocris pathways for ITGA4 Gene
33 Qiagen pathways for ITGA4 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
1 Cell Signaling Technology pathway for ITGA4 Gene

SIGNOR curated interactions for ITGA4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002687 positive regulation of leukocyte migration IEA --
GO:0003366 cell-matrix adhesion involved in ameboidal cell migration IMP 23986478
GO:0007155 cell adhesion IEA --
GO:0007159 leukocyte cell-cell adhesion IDA 1715889
GO:0007160 cell-matrix adhesion IMP 18308860
genes like me logo Genes that share ontologies with ITGA4: view

Drugs & Compounds for ITGA4 Gene

(38) Drugs for ITGA4 Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Natalizumab Approved, Investigational Pharma Target, antibody 112
Vedolizumab Approved Pharma Target, antibody 98
Tinzaparin Approved Pharma Target, inhibitor 45
ATL1102 Investigational Pharma Target, antisense 0
R1295 Investigational Pharma Target, antagonist 0

(28) Additional Compounds for ITGA4 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Echistatin, alpha1 isoform
154303-05-6

(5) Tocris Compounds for ITGA4 Gene

Compound Action Cas Number
A 205804 Selective inhibitor of E-selectin and ICAM-1 expression 251992-66-2
Echistatin, alpha1 isoform alphaVbeta3 and glycoprotein IIb/IIIa (integrin alphaIIbbeta3) inhibitor 154303-05-6
GR 144053 trihydrochloride Glycoprotein IIb/IIIa (integrin alphaIIbbeta3) receptor antagonist. Antithrombotic 1215333-48-4
Obtustatin Potent and selective alpha1beta1 inhibitor
P11 Potent antagonist of alphavbeta3-vitronectin interaction; antiangiogenic 848644-86-0

(5) ApexBio Compounds for ITGA4 Gene

Compound Action Cas Number
BIO 1211 α4β1 inhibitor,selective and high affinity 187735-94-0
BIO 5192 Integrin α4β1 inhibitor 327613-57-0
Firategrast α4β1/α4β7 integrin antagonist 402567-16-2
RGD (Arg-Gly-Asp) Peptides Inhibits integrin binding to RGD motifs 99896-85-2
TR-14035 α4β7 and α4β1 integrins antagonist 232271-19-1
genes like me logo Genes that share compounds with ITGA4: view

Transcripts for ITGA4 Gene

mRNA/cDNA for ITGA4 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGA4

Clone Products

  • Addgene plasmids for ITGA4

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^
SP1: - - - - -
SP2:
SP3: -
SP4: - - -
SP5:
SP6: - - -
SP7:
SP8:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ITGA4 Gene

GeneLoc Exon Structure for
ITGA4
ECgene alternative splicing isoforms for
ITGA4

Expression for ITGA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGA4 Gene

This gene is overexpressed in Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for ITGA4 Gene

This gene is overexpressed in Lymph node (17.2), CD8 Tcells (13.8), Peripheral blood mononuclear cells (9.3), and Spleen (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ITGA4 Gene



Protein tissue co-expression partners for ITGA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITGA4 Gene:

ITGA4

SOURCE GeneReport for Unigene cluster for ITGA4 Gene:

Hs.440955

Evidence on tissue expression from TISSUES for ITGA4 Gene

  • Liver(4.2)
  • Bone marrow(3)
  • Blood(2.9)
  • Spleen(2.9)
  • Lymph node(2.8)
  • Intestine(2.2)
  • Heart(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with ITGA4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA4 Gene

Orthologs for ITGA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA4 33 32
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ITGA4 33 32
  • 87.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ITGA4 33 32
  • 87.47 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itga4 32
  • 84.5 (n)
mouse
(Mus musculus)
Mammalia Itga4 17 33 32
  • 84.21 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGA4 33
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA4 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGA4 33 32
  • 69.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGA4 33
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga4 32
  • 63.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397839 32
zebrafish
(Danio rerio)
Actinopterygii itga4 33 32
  • 60.02 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alphaPS5 33 34
  • 23 (a)
ManyToMany
scb 33 34
  • 22 (a)
ManyToMany
alphaPS4 33 34
  • 21 (a)
ManyToMany
Species where no ortholog for ITGA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ITGA4 Gene

ENSEMBL:
Gene Tree for ITGA4 (if available)
TreeFam:
Gene Tree for ITGA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITGA4: view image

Paralogs for ITGA4 Gene

(8) SIMAP similar genes for ITGA4 Gene using alignment to 6 proteins:

  • ITA4_HUMAN
  • E7EP60_HUMAN
  • Q13682_HUMAN
  • Q68EM9_HUMAN
  • Q6PJE7_HUMAN
  • Q7Z4L6_HUMAN
genes like me logo Genes that share paralogs with ITGA4: view

Variants for ITGA4 Gene

Sequence variations from dbSNP and Humsavar for ITGA4 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10180793 benign, not specified, Retinitis Pigmentosa, Recessive 181,539,124(+) G/A downstream_transcript_variant
rs1037623 benign, Retinitis Pigmentosa, Recessive 181,537,304(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1047307 likely-benign, Retinitis Pigmentosa, Recessive 181,537,025(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10490690 uncertain-significance, Retinitis Pigmentosa, Recessive 181,537,617(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1143675 uncertain-significance, not specified, - 181,529,581(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ITGA4 Gene

Variant ID Type Subtype PubMed ID
dgv2105n106 CNV deletion 24896259
esv1005604 CNV deletion 20482838
esv1571329 CNV deletion 17803354
esv1979132 CNV deletion 18987734
esv2517753 CNV deletion 19546169
esv2620400 CNV deletion 19546169
esv2721204 CNV deletion 23290073
esv2840458 CNV deletion 24192839
esv3344 CNV loss 18987735
esv3560634 CNV deletion 23714750
esv3893514 CNV gain 25118596
esv6797 CNV loss 19470904
nsv1072054 CNV deletion 25765185
nsv1151355 CNV deletion 26484159
nsv3063 CNV insertion 18451855
nsv819063 CNV loss 19587683
nsv819894 CNV loss 19587683
nsv834476 CNV gain 17160897
nsv954442 CNV duplication 24416366
nsv954708 CNV deletion 24416366

Variation tolerance for ITGA4 Gene

Residual Variation Intolerance Score: 5.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.87; 59.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGA4 Gene

Human Gene Mutation Database (HGMD)
ITGA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA4 Gene

Disorders for ITGA4 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ITGA4 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ITGA4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITGA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITGA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGA4 Gene

Publications for ITGA4 Gene

  1. Association of the alpha4 integrin subunit gene (ITGA4) with autism. (PMID: 19259978) Correia C … Vicente AM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 43 56
  2. ITGA4 polymorphisms and susceptibility to multiple sclerosis. (PMID: 17689671) O'Doherty C … Vandenbroeck K (Journal of neuroimmunology 2007) 3 23 43 56
  3. Proinflammatory secreted phospholipase A2 type IIA (sPLA-IIA) induces integrin activation through direct binding to a newly identified binding site (site 2) in integrins αvβ3, α4β1, and α5β1. (PMID: 25398877) Fujita M … Takada Y (The Journal of biological chemistry 2015) 3 4 56
  4. Integrins αvβ3 and α4β1 act as coreceptors for fractalkine, and the integrin-binding defective mutant of fractalkine is an antagonist of CX3CR1. (PMID: 23125415) Fujita M … Takada Y (Journal of immunology (Baltimore, Md. : 1950) 2012) 3 4 56
  5. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. (PMID: 21738478) Okada Y … Kamatani N (PLoS genetics 2011) 3 43 56

Products for ITGA4 Gene

  • Addgene plasmids for ITGA4

Sources for ITGA4 Gene