TAB3

TGF-beta activated kinase 1 (MAP3K7) binding protein 3, the group of Zinc fingers RANBP2-type

Basic information

Region (hg38): X:30827441-30975084

Previous symbols: [ "MAP3K7IP3" ]

Links

ENSG00000157625 ∙ NCBI:257397 ∙ OMIM:300480 ∙ HGNC:30681 ∙ Uniprot:Q8N5C8 ∙ 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 TAB3 gene.

• Inborn genetic diseases (14 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAB3 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				2	2	4
missense			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	3	2

Variants in TAB3

This is a list of pathogenic ClinVar variants found in the TAB3 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-30831434-T-C		not specified	Uncertain significance (Sep 29, 2023)
X-30831461-C-T		not specified	Uncertain significance (Feb 15, 2023)
X-30831546-G-A		not specified	Uncertain significance (Sep 14, 2022)
X-30831560-G-A		not specified	Uncertain significance (May 25, 2022)
X-30834092-A-C		not specified	Uncertain significance (Dec 28, 2023)
X-30834092-A-T		not specified	Uncertain significance (Oct 12, 2021)
X-30834130-A-C		not specified	Uncertain significance (Dec 03, 2021)
X-30834146-G-A		not specified	Uncertain significance (Jul 06, 2021)
X-30842988-T-C			Benign (May 14, 2018)
X-30852787-C-T			Likely benign (Oct 01, 2022)
X-30852842-C-T		not specified	Uncertain significance (Oct 14, 2023)
X-30852863-C-T		not specified	Uncertain significance (Oct 10, 2023)
X-30854239-G-A		not specified	Uncertain significance (Feb 27, 2024)
X-30854311-T-C		not specified	Uncertain significance (Sep 12, 2023)
X-30854498-A-T		not specified	Uncertain significance (May 31, 2023)
X-30854583-C-A		not specified	Uncertain significance (Dec 14, 2022)
X-30854677-G-A		not specified	Uncertain significance (Feb 28, 2024)
X-30854679-G-A		not specified	Uncertain significance (Jan 24, 2024)
X-30854776-G-A		not specified	Uncertain significance (Sep 28, 2022)
X-30854918-C-T			Likely benign (Jul 01, 2022)
X-30854949-G-A			Likely benign (Mar 28, 2018)
X-30854952-C-T		not specified	Uncertain significance (Dec 20, 2023)
X-30854998-G-A		not specified	Uncertain significance (Mar 28, 2023)
X-30855128-C-T			Benign (Apr 03, 2018)
X-30855235-C-T		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAB3	protein_coding	protein_coding	ENST00000378933	7	147643

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.617	0.383	125731	4	5	125740	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	189	270	0.699	0.0000201	4626
Missense in Polyphen		48	95.359	0.50336		1788
Synonymous	1.28	78	93.7	0.832	0.00000691	1438
Loss of Function	3.69	5	24.9	0.201	0.00000215	360

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000816	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000986	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter linking MAP3K7/TAK1 and TRAF6 or TRAF2. Mediator of MAP3K7 activation, respectively in the IL1 and TNF signaling pathways. Plays a role in activation of NF-kappa-B and AP1 transcription factor. Isoform 2 may be an oncogenic factor. {ECO:0000269|PubMed:14633987, ECO:0000269|PubMed:14766965}.
• Pathway: TNF signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;IL-1 signaling pathway;TNF alpha Signaling Pathway;Structural Pathway of Interleukin 1 (IL-1);Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signal Transduction;Signaling by Interleukins;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;B cell receptor signaling;Toll-Like Receptors Cascades;NOD1/2 Signaling Pathway;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Interleukin-1 signaling;CLEC7A (Dectin-1) signaling;C-type lectin receptors (CLRs);Fc epsilon receptor (FCERI) signaling;Innate Immune System;Immune System;IL1;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;activated TAK1 mediates p38 MAPK activation;TNFR1-induced NFkappaB signaling pathway;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;TNF signaling;MyD88 dependent cascade initiated on endosome;Death Receptor Signalling;FCERI mediated NF-kB activation;TNFalpha;TRAF6-mediated induction of TAK1 complex within TLR4 complex;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;IRAK2 mediated activation of TAK1 complex;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Interleukin-1 family signaling;CD4 T cell receptor signaling-NFkB cascade;TICAM1,TRAF6-dependent induction of TAK1 complex;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.403
• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.62

Haploinsufficiency Scores

• pHI: 0.384
• hipred: Y
• hipred_score: 0.783
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.860

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tab3
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; immune system phenotype; hematopoietic system phenotype; normal phenotype

Gene ontology

• Biological process: activation of MAPK activity;stimulatory C-type lectin receptor signaling pathway;MyD88-dependent toll-like receptor signaling pathway;I-kappaB kinase/NF-kappaB signaling;JNK cascade;negative regulation of autophagy;Fc-epsilon receptor signaling pathway;positive regulation of NF-kappaB transcription factor activity;nucleotide-binding oligomerization domain containing signaling pathway;interleukin-1-mediated signaling pathway
• Cellular component: cytosol;plasma membrane;endosome membrane;extracellular exosome
• Molecular function: protein binding;metal ion binding