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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TAF8
TATA-box binding protein associated factor 8
Chromosome 6 · 6p21.1
NCBI Gene: 129685Ensembl: ENSG00000137413.17HGNC: HGNC:17300UniProt: A0A8I5KXI2
53PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-templated transcription open complex formationregulation of fat cell differentiationprotein bindingpositive regulation of transcription initiation by RNA polymerase IIneurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyHIV infectionNeurodevelopmental disordermicrocephaly
✦AI Summary

TAF8 (TATA-box binding protein associated factor 8) is a critical component of the TFIID basal transcription factor complex, which plays a major role in RNA polymerase II-dependent transcription initiation 1. TAF8 functions within the TFIID-B module alongside TAF5, and forms a heterodimer with TAF10 through its histone fold and proline-rich domains 2. The protein is essential for integrating TAF10 into higher-order TFIID core complexes and mediates both basal and activator-dependent transcription 2. TAF8 participates in cytoplasmic assembly of TFIID subcomplexes, specifically forming a heterotrimeric complex with TAF2 and TAF10 that is subsequently imported into the nucleus for holo-TFIID assembly 3. Beyond transcription, TAF8 plays specialized roles in cellular differentiation, particularly in adipogenesis, and is required for embryonic stem cell survival 4. Clinically, TAF8 mutations cause a severe neurodevelopmental disorder characterized by profound psychomotor retardation, microcephaly, hypomyelination, and progressive brain atrophy 5. The protein also undergoes alternative splicing that affects cancer metastasis, with different isoforms (TAF8L and TAF8S) having opposing roles in pancreatic cancer progression 6. TAF8's essential role in transcription machinery makes it critical for cellular viability, particularly in neuronal tissues.

Sources cited
1
TAF8 is part of TFIID complex and forms TFIID-B module with TAF5
PMID: 33795473
2
TAF8 forms heterodimer with TAF10 and is essential for TAF10 integration into TFIID
PMID: 17375202
3
TAF8 forms cytoplasmic heterotrimeric complex with TAF2 and TAF10
PMID: 25586196
4
TAF8 regions are required for embryonic stem cell survival
PMID: 34634302
5
TAF8 mutations cause severe neurodevelopmental disorder with brain abnormalities
PMID: 35759269
6
TAF8 alternative splicing produces isoforms with opposing roles in cancer metastasis
PMID: 34271104
Disease Associationsⓘ21
neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyOpen Targets
0.67Moderate
HIV infectionOpen Targets
0.58Moderate
Neurodevelopmental disorderOpen Targets
0.47Moderate
microcephalyOpen Targets
0.34Weak
Partial agenesis of the corpus callosumOpen Targets
0.34Weak
Severe global developmental delayOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
asthmaOpen Targets
0.27Weak
male reproductive system diseaseOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
Phenotypic abnormalityOpen Targets
0.12Weak
alcohol drinkingOpen Targets
0.11Weak
Tietze syndromeOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
hyperpituitarismOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Pallister-Hall syndromeOpen Targets
0.03Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.02Suggestive
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyUniProt
Pathogenic Variants8
NM_138572.3(TAF8):c.781-1G>APathogenic
Microcephaly;Severe global developmental delay;Partial agenesis of the corpus callosum|Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy|TAF8-related disorder
★★☆☆2025
NM_138572.3(TAF8):c.400del (p.Leu134fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 134
NM_138572.3(TAF8):c.365-1G>TLikely pathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
★☆☆☆2024
NM_138572.3(TAF8):c.796G>T (p.Glu266Ter)Pathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
★☆☆☆2023→ Residue 266
NM_138572.3(TAF8):c.806_809del (p.Asn269fs)Pathogenic
Neurodevelopmental disorder
★☆☆☆2022→ Residue 269
NM_138572.3(TAF8):c.719_720del (p.Thr240fs)Pathogenic
Neurodevelopmental disorder
★☆☆☆2022→ Residue 240
NM_138572.3(TAF8):c.45+4A>GPathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
☆☆☆☆2022
NM_138572.3(TAF8):c.489G>A (p.Pro163=)Pathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy|Papillary renal cell carcinoma type 1|Nonpapillary renal cell carcinoma
☆☆☆☆2022→ Residue 163
View on ClinVar ↗
Related Genes
TAF6Protein interaction100%TAF9Protein interaction100%TAF12Protein interaction100%SUPT3HProtein interaction100%TBPL1Protein interaction100%TAF6LProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
69%
Liver
63%
Bone Marrow
55%
Ovary
50%
Brain
45%
Gene Interaction Network
Click a node to explore
TAF8TAF6TAF9TAF12SUPT3HTBPL1TAF6L
PROTEIN STRUCTURE
Preparing viewer…
PDB4WV6 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.66LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.27 [0.98–1.66]
RankingsWhere TAF8 stands among ~20K protein-coding genes
  • #8,503of 20,598
    Most Researched53
  • #3,087of 5,498
    Most Pathogenic Variants8
  • #15,942of 17,882
    Most Constrained (LOEUF)1.66
Genes detectedTAF8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Participation of the TBP-associated factors (TAFs) in cell differentiation.
PMID: 38126142
J Cell Physiol · 2024
1.00
2
Mutations in TAF8 cause a neurodegenerative disorder.
PMID: 35759269
Brain · 2022
0.90
3
TAF Family Proteins and MEF2C Are Essential for Epstein-Barr Virus Super-Enhancer Activity.
PMID: 31167905
J Virol · 2019
0.80
4
Identification of a small TAF complex and its role in the assembly of TAF-containing complexes.
PMID: 17375202
PLoS One · 2007
0.70
5
HNRNPC impedes m
PMID: 34271104
Cancer Lett · 2021
0.60