TAF9

TATA-box binding protein associated factor 9, the group of General transcription factor IID complex subunits

Basic information

Region (hg38): 5:69362026-69370013

Previous symbols: [ "TAF2G" ]

Links

ENSG00000273841 ∙ NCBI:6880 ∙ OMIM:600822 ∙ HGNC:11542 ∙ Uniprot:Q16594 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAF9 gene.

• not_specified (25 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003187.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			25			25
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription. {ECO:0000269|PubMed:15899866}.
• Pathway: Basal transcription factors - Homo sapiens (human);Eukaryotic Transcription Initiation;Disease;Gene expression (Transcription);Generic Transcription Pathway;Transcription of the HIV genome;Late Phase of HIV Life Cycle;HIV Life Cycle;HIV Infection;RNA Polymerase II HIV Promoter Escape;Metabolism of nucleotides;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Interconversion of nucleotide di- and triphosphates;HIV Transcription Initiation;RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription;Chromatin modifying enzymes;Infectious disease;Purine metabolism;Metabolism;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;HATs acetylate histones;Regulation of TP53 Activity through Phosphorylation;Chromatin organization;C-MYC pathway;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Direct p53 effectors;Validated targets of C-MYC transcriptional activation (Consensus)

Recessive Scores

• pRec: 0.388

Intolerance Scores

• loftool: 0.368
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

• pHI: 0.956
• hipred: Y
• hipred_score: 0.695

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Taf9

Gene ontology

• Biological process: box C/D snoRNP assembly;transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;cellular response to DNA damage stimulus;positive regulation of cell growth;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;snRNA transcription by RNA polymerase II;negative regulation of apoptotic process;histone H3 acetylation;positive regulation of transcription by RNA polymerase II;protein stabilization;positive regulation of response to cytokine stimulus;response to interleukin-1;regulation of signal transduction by p53 class mediator;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
• Cellular component: SAGA complex;PCAF complex;nucleus;nucleoplasm;transcription factor TFIID complex;STAGA complex;transcription factor TFTC complex;pre-snoRNP complex;MLL1 complex
• Molecular function: p53 binding;DNA binding;transcription coactivator activity;histone acetyltransferase activity;protein binding;transcription factor binding;activating transcription factor binding;transcription regulatory region DNA binding;protein heterodimerization activity;ATPase binding;C2H2 zinc finger domain binding