• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TAF2 (HGNC:11536) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
TATA-box binding protein associated factor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TAF2B
Alias symbols
TAFII150, CIF150
%HI
15.82(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.42(Read more about gnomAD LOEUF score)
Cytoband
8q24.12
Genomic Coordinates
GRCh37/hg19: chr8:120743014-120845081 NCBI Ensembl UCSC
GRCh38/hg38: chr8:119730774-119832841 NCBI Ensembl UCSC
MANE Select Transcript
NM_003184.4 ENST00000378164.7 (Read more about MANE Select)
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 TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 an... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6904
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • microcephaly-thin corpus callosum-intellectual disability syndrome Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)