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HDAC4 |
Gene Facts External Data Attribution
- HGNC Symbol
- HDAC4 (HGNC:14063) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- histone deacetylase 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- BDMR
- Alias symbols
- KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4
- %HI
- 7.56(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.19(Read more about gnomAD LOEUF score)
- Cytoband
- 2q37.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:239969864-240323343 NCBI Ensembl UCSC GRCh38/hg38: chr2:239048168-239401649 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001378414.1 ENST00000543185.6 (Read more about MANE Select)
- Function
- Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17025
ClinGen Curation ID:
CCID:007274
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
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)
