Gene Gene information from NCBI Gene database.
Entrez ID 7431
Gene name Vimentin
Gene symbol VIM
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10p13
Summary This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, a
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1588736025 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
160
miRTarBase ID miRNA Experiments Reference
MIRT004724 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT004724 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT004724 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT004724 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT005028 hsa-miR-17-3p qRT-PCRWestern blot 19771525
Transcription factors Transcription factors information provided by TRRUST V2 database.
17
Transcription factor Regulation Reference
AR Repression 18535113
CTNNB1 Activation 12750294
ERG Activation 8895512
ETV4 Activation 8895512
HDGF Activation 22247069
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0003725 Function Double-stranded RNA binding IDA 21266579
GO:0005200 Function Structural constituent of cytoskeleton IBA
GO:0005200 Function Structural constituent of cytoskeleton IDA 11889032
GO:0005200 Function Structural constituent of cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
193060 12692 ENSG00000026025
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08670
Protein name Vimentin
Protein function Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally. Plays a role in cel
PDB 1GK4 , 1GK6 , 1GK7 , 3G1E , 3KLT , 3S4R , 3SSU , 3SWK , 3TRT , 3UF1 , 4MCY , 4MCZ , 4MD0 , 4MD5 , 4MDI , 4MDJ , 4YPC , 4YV3 , 5WHF , 6ATF , 6ATI , 6BIR , 6YXK , 8RVE , 8TRQ , 8TRR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04732 Filament_head 6 101 Intermediate filament head (DNA binding) region Family
PF00038 Filament 102 410 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fibroblasts, some expression in T- and B-lymphocytes, and little or no expression in Burkitt's lymphoma cell lines. Expressed in many hormone-independent mammary carcinoma cell lines. {ECO:0000269|PubMed:2472876, EC
Sequence
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells
Epstein-Barr virus infection
MicroRNAs in cancer
  Caspase-mediated cleavage of cytoskeletal proteins
Striated Muscle Contraction
Interleukin-4 and Interleukin-13 signaling
Aggrephagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cataract 30 Likely pathogenic; Pathogenic rs864309690, rs121917775 RCV000488584
RCV000012983
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract Likely pathogenic; Pathogenic rs864309690 RCV000203397
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
syndrome with premature-aging Likely pathogenic rs1588736025 RCV000853405
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 26594799
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 25149531, 28106537
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 2697560
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12046609, 17018615, 18327651, 21656704, 22315367, 22419022, 22761930, 23264213, 23318908, 23362007, 24092501, 24410722, 27069130, 28592120, 31704155
View all (1 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 22315367
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23049725, 25591736, 29208669, 30031128, 30923946, 30988707, 31042721, 31043817, 31103348
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 29464030
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 29596469
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18086775, 18327651, 23425390, 25307863, 30024936, 7678935
★☆☆☆☆
Found in Text Mining only