TADA2A

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

Basic information

Region (hg38): 17:37406886-37479725

Previous symbols: [ "TADA2L" ]

Links

ENSG00000276234 ∙ NCBI:6871 ∙ OMIM:602276 ∙ HGNC:11531 ∙ Uniprot:O75478 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TADA2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TADA2A gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in TADA2A

This is a list of pathogenic ClinVar variants found in the TADA2A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-37411373-G-A		not specified	Uncertain significance (Mar 31, 2023)
17-37423515-C-G		not specified	Uncertain significance (Nov 13, 2023)
17-37423556-A-G		not specified	Uncertain significance (Aug 02, 2021)
17-37423613-C-A		not specified	Uncertain significance (Aug 13, 2021)
17-37437804-G-A		not specified	Uncertain significance (Oct 02, 2023)
17-37440626-G-A		not specified	Uncertain significance (Dec 16, 2022)
17-37440658-T-G		not specified	Uncertain significance (Sep 29, 2023)
17-37442595-C-A		not specified	Uncertain significance (Dec 21, 2022)
17-37442596-T-G		not specified	Uncertain significance (May 05, 2023)
17-37442609-G-A		not specified	Uncertain significance (Feb 10, 2022)
17-37442620-G-A		not specified	Uncertain significance (Mar 21, 2024)
17-37444712-C-T		not specified	Uncertain significance (Feb 22, 2023)
17-37444722-C-G		not specified	Uncertain significance (Sep 29, 2022)
17-37458570-G-C		not specified	Uncertain significance (May 26, 2023)
17-37465440-G-A		not specified	Uncertain significance (Jan 29, 2024)
17-37465461-A-G		not specified	Uncertain significance (Oct 18, 2021)
17-37467518-T-G		not specified	Uncertain significance (May 31, 2023)
17-37470406-G-A		not specified	Uncertain significance (Jun 22, 2024)
17-37474586-C-G		not specified	Uncertain significance (May 15, 2024)
17-37474627-G-C		not specified	Uncertain significance (Jun 24, 2022)
17-37476972-C-G		not specified	Uncertain significance (May 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

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}.
• Pathway: Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

• pRec: 0.257

Intolerance Scores

• loftool: 0.887
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.06

Haploinsufficiency Scores

• pHI: 0.366
• hipred: N
• hipred_score: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tada2a

Gene ontology

• 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
• Cellular component: PCAF complex;nucleus;chromosome;SAGA-type complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;chromatin binding;transcription coactivator activity;histone acetyltransferase activity;protein binding