Gene
HDAC4
histone deacetylase 4
- HGNC 14063(opens in a new tab)
- Ensembl gene ENSG00000068024(opens in a new tab)
- NCBI Gene 9759(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.3
- Coordinates
- Chromosome 2: 239,048,168–239,401,020 (GRCh38)
- Exons
- 27 exons across 352.9 kb
- Protein
- 1,089 amino acids
- Also known as
- KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4
- Previous symbols
- BDMR
- MANE Select transcript
- ENST00000543185.6NM_001378414.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How HDAC4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.5 kb of the gene's 352.9 kb; 3,270 of those bases code for the protein.
How a genome test reads HDAC4
3
positions in HDAC4 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 352.9 kb of HDAC4, introns included, not only the 8.5 kb of exons.
Traits linked to HDAC4
The Human Phenotype Ontology lists these as features of the rare conditions HDAC4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad face
- Drooling
- Broad nasal tip
- Broad opening between the eyelids
- Full lower lip
- Midface retrusion
- Round face
- Widely spaced teeth
Show 22 more traits
- Zygomatic flattening
- Abnormally small head
- Broad columella
- Broad head shape
- Decreased volume of lip
- Delayed closure of the soft spot on the skull
- Delayed eruption of teeth
- Depressed nasal bridge
- Downturned corners of mouth
- Frontal bossing
- Highly arched eyebrow
- Nasal tip, upturned
- Sparse eyebrow
- Sparse scalp hair
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Big calvaria
- Short neck
- Coarse facial features
- Narrow eyelid opening
- Narrow opening between the eyelids
- Wide nose
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Repetitive movements
- Delayed ability to walk
- Intellectual disability
- Motor delay
- Absent speech development
- Aggressive behavior
Show 18 more traits
- Behavioral abnormality
- Difficulty sleeping
- Epilepsy
- Self-injurious behavior
- Skin-picking
- Ventriculomegaly
- Attention deficit
- Autism
- Autism spectrum disorder
- Degeneration of cerebellum
- Degeneration of cerebrum
- Infantile spasms
- Obsessive compulsive behavior
- Stereotypical hand wringing
- Thin corpus callosum
- Decreased reflex response
- More active than typical
- Pain insensitivity
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HDAC4 gene: histone deacetylase 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/hdac4
Dante Labs. HDAC4 gene: histone deacetylase 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hdac4
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