TADA2A

protein-coding

transcriptional adaptor 2A, the group of Myb/SANT domain containing|ATAC complex

Gene summary

Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]

Previous symbols:

TADA2L

MANE transcript

NM_001166105.3

Inheritance

—

ClinVar variants

U:63

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr17:37,406,886-37,479,725

External References & Databases

Ensembl (ENSG00000276234)

Transcript & Mutation Effects

hg38 • Region Span ~72.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TADA2A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 54

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001166105.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			56 clinvar			56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	63	0	0	63

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001166105.3	RefSeq	NP_001159577.2	15	MANE Select
ENST00000615182.5	Ensembl	ENSP00000481091.1	15	MANE Select
NM_001291918.2	RefSeq	NP_001278847.1	10	Standard
NM_001488.5	RefSeq	NP_001479.4	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Chromatin modifying enzymes
HATs acetylate histones
Chromatin organization

Biological Process

chromatin remodeling
regulation of transcription by RNA polymerase II
positive regulation of histone acetylation
histone H3 acetylation
positive regulation of nucleic acid-templated transcription

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
DNA binding
chromatin binding
transcription coactivator activity
histone acetyltransferase activity

Cellular Component

PCAF complex
nucleus
chromosome
SAGA-type complex

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double- stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity (PubMed:22644376). May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage (PubMed:22644376). {ECO:0000250|UniProtKB:Q8CHV6, ECO:0000269|PubMed:19103755, ECO:0000269|PubMed:22644376}.;

Recessive Scores

pRec: 0.257

Intolerance Scores

LoFtool: 0.887
RVIS EVS: 0.42
RVIS percentile EVS: 77.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

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