Gene Gene information from NCBI Gene database.
Entrez ID 57504
Gene name Metastasis associated 1 family member 3
Gene symbol MTA3
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p21
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1558553140 G>A Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
506
miRTarBase ID miRNA Experiments Reference
MIRT038438 hsa-miR-296-3p CLASH 23622248
MIRT052935 hsa-miR-495-3p 5.0 24293376
MIRT539909 hsa-miR-8485 HITS-CLIP 19536157
MIRT539908 hsa-miR-603 HITS-CLIP 19536157
MIRT539907 hsa-miR-4639-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ESR1 Unknown 15169784
MTA1 Repression 18719363
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:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IEA
GO:0003713 Function Transcription coactivator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609050 23784 ENSG00000057935
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BTC8
Protein name Metastasis-associated protein MTA3
Protein function Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:12705869, PubMed:16428440, PubMed:28977666). Plays a role in maintenance of the normal epithelial architecture through the repr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01426 BAH 4 147 BAH domain Domain
PF01448 ELM2 150 202 ELM2 domain Family
PF00249 Myb_DNA-binding 268 314 Myb-like DNA-binding domain Domain
PF00320 GATA 379 416 GATA zinc finger Domain
PF17226 MTA_R1 461 537 MTA R1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in germinal centers of lymphoid tissues. No expression in nonepithelial cells. {ECO:0000269|PubMed:12705869}.
Sequence
Sequence length 594
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling   HDACs deacetylate histones
RNA Polymerase I Transcription Initiation
Regulation of PTEN gene transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Short stature Likely pathogenic rs1558553140 RCV000736212
★★★★☆
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 23671646
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 23612572
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 12705869, 23510993, 23671646
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 28351306
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 31698564
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 23840517
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 28351306
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Inhibit 28418887
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Stimulate 23840517
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 24107548
★☆☆☆☆
Found in Text Mining only