Gene
TAF4
TATA-box binding protein associated factor 4
- HGNC 11537↗(opens in a new tab)
- Ensembl gene ENSG00000130699↗(opens in a new tab)
- NCBI Gene 6874↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.33
- Coordinates
- Chromosome 20: 61,974,798–62,065,881 (GRCh38)
- Exons
- 15 exons across 91.1 kb
- Protein
- 1,085 amino acids
- Also known as
- TAFII130, TAFII135
- Previous symbols
- TAF4A, TAF2C1, TAF2C
- MANE Select transcript
- ENST00000252996.9NM_003185.4
- 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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Intellectual Disability
One of 233 genes linked to it
- 1 GenCC submitter rates it definitive or strong
How TAF4 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 4.7 kb of the gene's 91.1 kb; 3,258 of those bases code for the protein.
How a genome test reads TAF4
17
positions in TAF4 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 91.1 kb of TAF4, introns included, not only the 4.7 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 TAF4
The Human Phenotype Ontology lists these as features of the rare conditions TAF4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Beaked nose
- Broad opening between the eyelids
- Broad philtrum
- Carp-like mouth
- Cleft soft palate
- Deep bite
- Deep philtrum
Show 27 more traits
- Downward slanting of the opening between the eyelids
- Drooling
- Drooping lower lip
- Epiblepharon
- Full lips
- Full lower lip
- High palate
- Highly arched eyebrow
- Long nose
- Monobrow
- Narrow eyelid opening
- Nasal tip, upturned
- Prominent nasal bridge
- Prominent nose
- Receding chin
- Short chin
- Short columella
- Short opening between the eyelids
- Short philtrum
- Smooth philtrum
- Thick eyebrow
- Tongue tied
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Wide nose
- Widely spaced teeth
Abnormality of the musculoskeletal system
- Delayed bone maturation
- Double-Jointed
- Excessive inward curvature of lower spine
- Flexed joint that cannot be straightened
- Hunched back
- Involuntary muscle stiffness, contraction, or spasm
- Low muscle tone
- Narrow chest
Show 3 more traits
Abnormality of limbs
- Bilateral single transverse palmar creases
- Curvature of little finger
- Dropped arches
- External tibial torsion
- Inability to straighten knee
- Increased arm span
- Limited elbow extension
- Prominent hinge joints
Show 2 more traits
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.). TAF4 gene: TATA-box binding protein associated factor 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/taf4
Dante Labs. TAF4 gene: TATA-box binding protein associated factor 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/taf4
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