Gene
BRD4
bromodomain containing 4
- HGNC 13575↗(opens in a new tab)
- Ensembl gene ENSG00000141867↗(opens in a new tab)
- NCBI Gene 23476↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.12
- Coordinates
- Chromosome 19: 15,235,519–15,332,539 (GRCh38)
- Exons
- 20 exons across 97 kb
- Protein
- 1,362 amino acids
- Also known as
- HUNKI, MCAP, CAP, HUNK1, FSHRG4
- MANE Select transcript
- ENST00000679869.1NM_001379291.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Cornelia de Lange Syndrome
A developmental disorder caused by variants in NIPBL, SMC1A, SMC3, RAD21, HDAC8 or BRD4, with a wide range of severity.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis guides monitoring for associated problems such as reflux, heart defects, hearing and vision issues.
Broader groupings
Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
How BRD4 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 7.2 kb of the gene's 97 kb; 4,089 of those bases code for the protein.
How a genome test reads BRD4
14
positions in BRD4 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 97 kb of BRD4, introns included, not only the 7.2 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to BRD4
The Human Phenotype Ontology lists these as features of the rare conditions BRD4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cleft lip
- Corners of eye widely separated
- Macrodontia of permanent maxillary central incisor
- Abnormally small head
- Broad head shape
- Curly eyelashes
- Decreased volume of lip
- Delayed eruption of teeth
Show 21 more traits
- Depressed nasal bridge
- Downturned corners of mouth
- High palate
- Highly arched eyebrow
- Little lower jaw
- Long eyelashes
- Long philtrum
- Low frontal hairline
- Low hairline at back of neck
- Monobrow
- Nasal tip, upturned
- Short neck
- Short nose
- Sparse eyebrow
- Thick eyebrow
- Widely spaced teeth
- Downward slanting of the opening between the eyelids
- Inflammation of eyelids
- Blockage of the rear opening of the nasal cavity
- Cleft palate
- Increased nuchal translucency
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Hair-pulling
- Abnormally low-pitched voice
- Intellectual disability
- Intellectual disability, severe
- Abnormal speech pattern
- Anxiety
Show 12 more traits
- Attention deficit
- Cancer of early nerve cells
- Difficulty sleeping
- Obsessive compulsive behavior
- Absent/small cerebellum
- Autism
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Epilepsy
- Peripheral neuropathy
- Psychosis
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
Abnormality of the musculoskeletal system
- Abnormal formation of the hip
- Delayed bone maturation
- Pigeon chest
- Posterior rib fusion
- Rounded shoulders
- Scoliosis
- Spasticity and rigidity of muscles
- Joint stiffness
Show 3 more traits
Abnormality of the eye
- Wide-set eyes
- Close sighted
- Cornea of eye less than 10mm in diameter
- Cross-eyed
- Drooping upper eyelid
- Phthisis bulbi
- Clouding of the lens of the eye
- Glaucoma
Show 1 more trait
Abnormality of the genitourinary system
- Hypospadias
- Multicystic kidney dysplasia
- Small labia majora
- Underdeveloped penis
- Undescended testes
- Vesicoureteral reflux
- Abnormality of the uterus
- Primary amenorrhea
Show 1 more trait
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). BRD4 gene: bromodomain containing 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/brd4
Dante Labs. BRD4 gene: bromodomain containing 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/brd4
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