TAF8 (TATA-box binding protein associated factor 8)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 129685
Gene name TATA-box binding protein associated factor 8
Gene symbol TAF8
Synonyms (NCBI Gene)
IINEDMLHBTAFTAF(II)43TAFII-43TAFII43TBN
Chromosome 6
Chromosome location 6p21.1
Summary This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcri
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs371261267 G>A Pathogenic Splice acceptor variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1298
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1298)
miRTarBase ID miRNA Experiments Reference
MIRT017151 hsa-miR-335-5p Microarray 18185580
MIRT048755 hsa-miR-93-5p CLASH 23622248
MIRT692735 hsa-miR-188-5p HITS-CLIP 23313552
MIRT692733 hsa-miR-6866-3p HITS-CLIP 23313552
MIRT692734 hsa-miR-4780 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0001112 Process DNA-templated transcription open complex formation IDA 14580349
GO:0001833 Process Inner cell mass cell proliferation IEA
GO:0005515 Function Protein binding IPI 15870280, 23292512, 24705354, 28514442, 32814053, 33961781
GO:0005634 Component Nucleus EXP 23332750
GO:0005634 Component Nucleus IDA 15870280
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609514 17300 ENSG00000137413
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z7C8
Protein name Transcription initiation factor TFIID subunit 8 (Protein taube nuss) (TBP-associated factor 43 kDa) (TBP-associated factor 8) (Transcription initiation factor TFIID 43 kDa subunit) (TAFII-43) (TAFII43) (hTAFII43)
Protein function The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TAT
PDB 4WV4 , 4WV6 , 5FUR , 6MZC , 6MZL , 6MZM , 7EDX , 7EG7 , 7EG8 , 7EG9 , 7EGA , 7EGB , 7EGC , 7EGD , 7EGE , 7EGG , 7EGH , 7EGI , 7EGJ , 7ENA , 7ENC , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07524 Bromo_TP 29 → 106 Bromodomain associated Domain
PF10406 TAF8_C 145 → 193 Transcription factor TFIID complex subunit 8 C-term Domain
Sequence 
MADAAATAGAGGSGTRSGSKQSTNPADNYHLARRRTLQVVVSSLLTEAGFESAEKASVET
LTEMLQSYISEIGRSAKSYCEHTARTQPTLSDIVVTLVEMGFNVDTLPAYAKRSQRMVIT
APPVTNQPVTPKALTAGQNRPHPPHIPSHFPEFPDPHTYIKTPTYREPVSDYQVLREKAA
SQRRDVERALTRFMAKTGETQSLFKDDVSTFPLIAARPFTIPYLTALLPSELEMQQMEET
DSSEQDEQTDTENLALHISMEDSGAEKENTSVLQQNPSLSGSRNGEENIIDNPYLRPVKK
PKIRRKKSLS
Sequence length 310
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Basal transcription factors   RNA polymerase II transcribes snRNA genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcephaly Pathogenic rs371261267 RCV000791326
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Pathogenic rs2127459499, rs2127464524 RCV002246759
RCV002246760
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy Pathogenic; Likely pathogenic rs2127446222, rs554917914, rs1384148842, rs371261267 RCV002271729
RCV002271730
RCV003993641
RCV002271585
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma Pathogenic rs554917914 RCV005930196
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERPITUITARISM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARTIAL AGENESIS OF CORPUS CALLOSUM — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colonic Neoplasms Associate 18567809
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 21682879
★★★★★
★☆☆☆☆
Found in Text Mining only