Gene Gene information from NCBI Gene database.
Entrez ID 6873
Gene name TATA-box binding protein associated factor 2
Gene symbol TAF2
Synonyms (NCBI Gene)
CIF150MRT40TAF2BTAFII150
Chromosome 8
Chromosome location 8q24.12
Summary Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly,
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs398124645 A>G Pathogenic Coding sequence variant, missense variant
rs750451843 G>A,C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
180
miRTarBase ID miRNA Experiments Reference
MIRT025140 hsa-miR-181a-5p Microarray 17612493
MIRT224088 hsa-miR-4803 HITS-CLIP 19536157
MIRT722012 hsa-miR-651-3p HITS-CLIP 19536157
MIRT722011 hsa-miR-3148 HITS-CLIP 19536157
MIRT722010 hsa-miR-1206 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IMP 10409744
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding IMP 10409744
GO:0003682 Function Chromatin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604912 11536 ENSG00000064313
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1X5
Protein name Transcription initiation factor TFIID subunit 2 (150 kDa cofactor of initiator function) (RNA polymerase II TBP-associated factor subunit B) (TBP-associated factor 150 kDa) (Transcription initiation factor TFIID 150 kDa subunit) (TAF(II)150) (TAFII-150) (
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 5FUR , 6MZC , 6MZL , 6MZM , 7EDX , 7EG7 , 7EG8 , 7EG9 , 7EGA , 7EGB , 7EGC , 7EGD , 7EGE , 7EGH , 7EGI , 7EGJ , 7ENA , 7ENC , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested. {ECO:0000269|PubMed:9774672}.
Sequence
MPLTGVEPARMNRKKGDKGFESPRPYKLTHQVVCINNINFQRKSVVGFVELTIFPTVANL
NRIKLNSKQCRIYRVRINDLEAAFIYNDPTLEVCHSESKQRNLNYFSNAYAAAVSAVDPD
AGNGELCIKVPSELWKHVDELKVLKIHINFSLDQPKGGLHFVVPSVEGSMAERGAHVFSC
GYQNSTRFWFPCVDSYSELCTWKLEFTVDAAMVAVSNGDLVETVYTHDMRKKTFHYMLTI
PTAASNISLAIGPFEILVDPYMHEVTHFCLPQLLPLLKHTTSYLHEVFEFYEEILTCRYP
YSCFKTVFIDEAYVEVAAYASMSIFSTNLLHSAMIIDETPLTRRCLAQSLAQQFFGCFIS
RMSWSDEWVLKGISGYIYGLWMKKTFGVNEYRHWIKEELDKIVAYELKTGGVLLHPIFGG
GKEKDNPASHLHFSIKHPHTLSWEYYSMFQCKAHLVMRLIENRISMEFMLQVFNKLLSLA
STASSQKFQSHMWSQMLVSTSGFLKSISNVSGKDIQPLIKQWVDQSGVVKFYGSFAFNRK
RNVLELEIKQDYTSPGTQKYVGPLKVTVQELDGSFNHTLQIEENSLKHDIPCHSKSRRNK
KKKIPLMNGEEVDMDLSAMDADSPLLWIRIDPDMSVLRKVEFEQADFMWQYQLRYERDVV
AQQESILALEKFPTPASRLALTDILEQEQCFYRVRMSACFCLAKIANSMVSTWTGPPAMK
SLFTRMFCCKSCPNIVKTNNFMSFQSYFLQKTMPVAMALLRDVHNLCPKEVLTFILDLIK
YNDNRKNKFSDNYYRAEMIDALANSVTPAVSVNNEVRTLDNLNPDVRLILEEITRFLNME
KLLPSYRHTITVSCLRAIRVLQKNGHVPSDPALFKSYAEYGHFVDIRIAALEAVVDYTKV
DRSYEELQWLLNMIQNDPVPYVRHKILNMLTKNPPFTKNMESPLCNEALVDQLWKLMNSG
TSHDWRLRCGAVDLYFTLFGLSRPSCLPLPELGLVLNLKEKKAVLNPTIIPESVAGNQEA
ANNPSSHPQLVGFQNPFSSSQDEEEIDMDTVHDSQAFISHHLNMLERPSTPGLSKYRPAS
SRSALIPQHSAGCDSTPTTKPQWSLELARKGTGKEQAPLEMSMHPAASAPLSVFTKESTA
SKHSDHHHHHHHEHKKKKKKHKHKHKHKHKHDSKEKDKEPFTFSSPASGRSIRSPSLSD
Sequence length 1199
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Basal transcription factors   RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Initiation And Promoter Clearance
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly-thin corpus callosum-intellectual disability syndrome Likely pathogenic; Pathogenic rs2131063622, rs398124645 RCV001374390
RCV000077872
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs61753749, rs542084457 RCV005921060
RCV005939240
Cervical cancer Benign rs61753749 RCV005921062
Colon adenocarcinoma Benign rs61753749 RCV005921059
Colorectal cancer Benign rs61753749 RCV005921064