Gene Gene information from NCBI Gene database.
Entrez ID 6275
Gene name S100 calcium binding protein A4
Gene symbol S100A4
Synonyms (NCBI Gene)
18A242ACAPLFSP1MTS1P9KAPEL98
Chromosome 1
Chromosome location 1q21.3
Summary The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of ce
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
CIITA Repression 17143014
CREBBP Unknown 17143014
EP300 Unknown 17143014
PTTG1 Activation 19351864
STAT4 Activation 22740693
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001837 Process Epithelial to mesenchymal transition TAS 14679171
GO:0003723 Function RNA binding HDA 22658674
GO:0003779 Function Actin binding IEA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114210 10494 ENSG00000196154
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26447
Protein name Protein S100-A4 (Calvasculin) (Metastasin) (Placental calcium-binding protein) (Protein Mts1) (S100 calcium-binding protein A4)
Protein function Calcium-binding protein that plays a role in various cellular processes including motility, angiogenesis, cell differentiation, apoptosis, and autophagy (PubMed:16707441, PubMed:23752197, PubMed:30713770). Increases cell motility and invasivenes
PDB 1M31 , 2LNK , 2MRD , 2Q91 , 3C1V , 3CGA , 3KO0 , 3M0W , 3ZWH , 4CFQ , 4CFR , 4ETO , 4HSZ , 5LPU , 6T58 , 7PSP , 7PSQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01023 S_100 5 47 S-100/ICaBP type calcium binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
MACPLEKALDVMVSTFHKYSGKEGDKFKLNKSELKELLTRELPSFLGKRTDEAAFQKLMS
NLDSNRDNEVDFQEYCVFLSCIAMMCNEFFEGFPDKQPRKK
Sequence length 101
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROSCLEROSIS CTD, Disgenet
CTD, 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 7630190, 7630199, 7994022, 8547074, 8631023, 8637233, 8683987
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10601379, 11029520, 11106237, 11786397, 12239456, 12887505, 16685438, 17032501, 22761930, 24215488, 7845688, 7889533, 9759649, 9815629
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11786397, 12239456, 16367903, 16685438, 17032501
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 10091942, 10389988
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10952782, 12239456
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16367903, 27127879, 29449540
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 7726912, 8613012
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 17219414
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 17673926
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9815629
★☆☆☆☆
Found in Text Mining only