TANK

TRAF family member associated NFKB activator

Basic information

Region (hg38): 2:161136908-161236230

Previous symbols: [ "TRAF2" ]

Links

ENSG00000136560 ∙ NCBI:10010 ∙ OMIM:603893 ∙ HGNC:11562 ∙ Uniprot:Q92844 ∙ 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 TANK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TANK 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					1	1
missense			23		2	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	23	0	3

Variants in TANK

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

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

Position	Type	Phenotype	Significance	ClinVar
2-161203511-C-T		not specified	Uncertain significance (Feb 16, 2023)
2-161204726-A-G		not specified	Uncertain significance (Jan 23, 2024)
2-161204747-C-A		not specified	Uncertain significance (Mar 05, 2024)
2-161204762-T-C		not specified	Uncertain significance (Mar 25, 2024)
2-161204791-A-G		not specified	Uncertain significance (Jul 08, 2022)
2-161223924-C-G			Benign (Dec 01, 2022)
2-161230995-A-C		not specified	Uncertain significance (Apr 07, 2023)
2-161231017-A-T		not specified	Uncertain significance (Aug 11, 2022)
2-161231044-T-C			Benign (Mar 29, 2018)
2-161231061-G-C		not specified	Uncertain significance (Jun 24, 2022)
2-161231121-C-T		not specified	Uncertain significance (Jan 02, 2024)
2-161231150-G-T		not specified	Uncertain significance (Mar 06, 2023)
2-161231167-G-A		not specified	Uncertain significance (Aug 16, 2022)
2-161231178-C-T		not specified	Uncertain significance (Jul 29, 2022)
2-161231196-C-T		not specified	Uncertain significance (Nov 09, 2022)
2-161231268-T-C		not specified	Uncertain significance (Feb 06, 2023)
2-161231315-G-A		not specified	Uncertain significance (Jun 21, 2022)
2-161231332-C-A		not specified	Uncertain significance (May 11, 2022)
2-161231348-A-G		not specified	Uncertain significance (Sep 27, 2022)
2-161231356-C-G		not specified	Uncertain significance (Jun 22, 2021)
2-161231364-C-A		not specified	Uncertain significance (May 28, 2023)
2-161231370-A-G		not specified	Uncertain significance (Sep 17, 2021)
2-161231406-T-G		not specified	Uncertain significance (Jul 08, 2022)
2-161231430-C-T		not specified	Uncertain significance (Mar 02, 2023)
2-161231468-A-C		not specified	Uncertain significance (Nov 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TANK	protein_coding	protein_coding	ENST00000392749	7	99314

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.838	0.162	125739	0	5	125744	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	162	217	0.748	0.0000106	2797
Missense in Polyphen		42	60.837	0.69037		774
Synonymous	0.379	77	81.4	0.946	0.00000442	805
Loss of Function	3.42	3	19.2	0.156	9.70e-7	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. Acts as a regulator of TRAF function by maintaining them in a latent state. Blocks TRAF2 binding to LMP1 and inhibits LMP1-mediated NF-kappa-B activation. Negatively regulates NF-kappaB signaling and cell survival upon DNA damage (PubMed:25861989). Plays a role as an adapter to assemble ZC3H12A, USP10 in a deubiquitination complex which plays a negative feedback response to attenuate NF-kappaB activation through the deubiquitination of IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Promotes UBP10-induced deubiquitination of TRAF6 in response to DNA damage (PubMed:25861989). May control negatively TRAF2-mediated NF-kappa-B activation signaled by CD40, TNFR1 and TNFR2. {ECO:0000269|PubMed:12133833, ECO:0000269|PubMed:21931631, ECO:0000269|PubMed:25861989}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);TNF alpha Signaling Pathway;Structural Pathway of Interleukin 1 (IL-1);RIG-I-like Receptor Signaling;tnfr2 signaling pathway;tnf/stress related signaling;TICAM1-dependent activation of IRF3/IRF7;Toll Like Receptor 3 (TLR3) Cascade;Toll-Like Receptors Cascades;TRAF6 mediated IRF7 activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Innate Immune System;Immune System;TNFalpha;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade (Consensus)

Recessive Scores

• pRec: 0.183

Intolerance Scores

• loftool: 0.328
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.25

Haploinsufficiency Scores

• pHI: 0.324
• hipred: Y
• hipred_score: 0.701
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.849

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tank
• Phenotype: renal/urinary system phenotype; liver/biliary system phenotype; respiratory system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype

Gene ontology

• Biological process: proteolysis;cellular response to DNA damage stimulus;signal transduction;I-kappaB kinase/NF-kappaB signaling;viral process;TRIF-dependent toll-like receptor signaling pathway;negative regulation of I-kappaB kinase/NF-kappaB signaling;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to ionizing radiation;positive regulation of protein deubiquitination;positive regulation of ubiquitin-specific protease activity
• Cellular component: cytosol;protein-containing complex
• Molecular function: thiol-dependent ubiquitin-specific protease activity;protein binding;ubiquitin protein ligase binding;deubiquitinase activator activity;metal ion binding