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MTA3 |
Gene Facts External Data Attribution
- HGNC Symbol
- MTA3 (HGNC:23784) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- metastasis associated 1 family member 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA1266
- %HI
- 35.2(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.16(Read more about gnomAD pLI score)
- LOEUF
- 0.62(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:42721250-42984086 NCBI Ensembl UCSC GRCh38/hg38: chr2:42494110-42756946 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001330442.2 ENST00000405094.2 (Read more about MANE Select)
- Function
- Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:12705869, PubMed:28977666). Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent manner, and thus the regulation of E-cadherin levels (PubMed:12705869). Contributes to transcriptional repression by BCL6 (PubMed:15454082). {ECO:0000269|PubMed:12705869, ECO:0000269|PubMed:... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30893
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
