mutLBSgeneDB |
Gene summary for ITGA4 |
Gene summary |
Basic gene Info. | Gene symbol | ITGA4 |
Gene name | integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) | |
Synonyms | CD49D|IA4 | |
Cytomap | UCSC genome browser: 2q31.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000885.4, | |
Description | 269C wild typeCD49 antigen-like family member DVLA-4 subunit alphaantigen CD49D, alpha-4 subunit of VLA-4 receptorintegrin alpha 4integrin alpha-4integrin alpha-4 subunitintegrin alpha-IVvery late activation protein 4 receptor, alpha 4 subunit | |
Modification date | 20141207 | |
dbXrefs | MIM : 192975 | |
HGNC : HGNC | ||
HPRD : 01894 | ||
Protein | UniProt: P13612 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ITGA4 | |
BioGPS: 3676 | ||
Pathway | NCI Pathway Interaction Database: ITGA4 | |
KEGG: ITGA4 | ||
REACTOME: ITGA4 | ||
Pathway Commons: ITGA4 | ||
Context | iHOP: ITGA4 | |
ligand binding site mutation search in PubMed: ITGA4 | ||
UCL Cancer Institute: ITGA4 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0007159 | leukocyte cell-cell adhesion | 1715889 | GO:0090074 | negative regulation of protein homodimerization activity | 12869515 |
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Ligand binding site mutations for ITGA4 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D439 | D439N | BLCA | 1 | D314 | A312S | COAD | 1 | N404 | I402S | COAD | 1 | D318,N316 | A317S | LUAD | 1 | N404 | N404S | STAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for ITGA4 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | N404 | I402S | -1.6628071 | N316 | A317S | -1.1782468 | D318 | A317S | -1.1782468 | D439 | D439N | -0.54539028 | D314 | A312S | -0.54503161 | N404 | N404S | -0.29730439 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for ITGA4 from PDB |
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Differential gene expression and gene-gene network for ITGA4 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for ITGA4 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0023434 | Leukemia, Lymphocytic, Chronic, B-Cell | 14 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0004352 | Autistic Disorder | 4 | Biomarker, GeneticVariation |
umls:C0017639 | Gliosis | 1 | Biomarker |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ITGA4 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|investigational | DB00108 | Natalizumab | Biotech | |
Investigational | DB04997 | ATL1102 | Small molecule | |
Investigational | DB05092 | CDP323 | Small molecule | |
Investigational | DB05122 | R1295 | Small molecule | |
Investigational | DB05468 | R411 | Small molecule | |
Investigational | DB05802 | MLN-02 | Small molecule | |
Approved | DB06822 | Tinzaparin | Small molecule | |
Approved | DB09033 | Vedolizumab | Biotech |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ITGA4 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of ITGA4 |
Multiple alignments for P13612 in multiple species |
LBS | AA sequence | # species | Species |
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