TAOK3

TAO kinase 3, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): 12:118149800-118372907

Links

ENSG00000135090 ∙ NCBI:51347 ∙ OMIM:616711 ∙ HGNC:18133 ∙ Uniprot:Q9H2K8 ∙ 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 TAOK3 gene.

• Inborn genetic diseases (23 variants)
• not provided (5 variants)
• Neurodevelopmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAOK3 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
missense			23			23
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				3		3
non coding						0
Total	0	0	24	0	2

Variants in TAOK3

This is a list of pathogenic ClinVar variants found in the TAOK3 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-118151058-C-T		not specified	Uncertain significance (Jun 26, 2023)
12-118151125-G-A		not specified	Uncertain significance (Jan 26, 2022)
12-118152332-G-A			Benign (Mar 29, 2018)
12-118160353-C-T		not specified	Uncertain significance (Oct 13, 2023)
12-118160365-A-G			Likely benign (Aug 16, 2018)
12-118161927-A-G		not specified	Uncertain significance (Feb 07, 2023)
12-118172483-C-T		not specified	Uncertain significance (Mar 21, 2023)
12-118172524-T-C		not specified	Uncertain significance (Mar 23, 2023)
12-118172552-T-A		not specified	Uncertain significance (Dec 30, 2023)
12-118172559-G-C		not specified	Uncertain significance (Dec 30, 2023)
12-118172617-T-C		not specified	Uncertain significance (Jul 12, 2022)
12-118177217-T-G		not specified	Uncertain significance (Jun 29, 2022)
12-118177274-T-C		not specified	Uncertain significance (Jan 23, 2023)
12-118177322-A-G		not specified	Uncertain significance (May 27, 2022)
12-118181441-G-A		not specified	Uncertain significance (Dec 21, 2023)
12-118181535-G-A		not specified	Uncertain significance (May 04, 2022)
12-118181610-G-A			Likely benign (Dec 31, 2019)
12-118189826-G-A		not specified	Uncertain significance (Jun 21, 2021)
12-118199098-C-T		not specified	Uncertain significance (Mar 28, 2023)
12-118199223-A-G		not specified	Uncertain significance (Feb 05, 2024)
12-118199235-AG-A		Neurodevelopmental disorder	Uncertain significance (Jun 28, 2021)
12-118201313-A-G		not specified	Uncertain significance (May 25, 2022)
12-118201359-C-A		not specified	Uncertain significance (Apr 07, 2022)
12-118201391-G-T		not specified	Uncertain significance (Aug 16, 2021)
12-118214029-T-G		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAOK3	protein_coding	protein_coding	ENST00000392533	19	223145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000254	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.03	313	505	0.620	0.0000293	6009
Missense in Polyphen		47	119.48	0.39339		1425
Synonymous	0.767	169	182	0.928	0.0000106	1566
Loss of Function	5.97	7	54.6	0.128	0.00000302	623

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000391	0.0000391
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000979	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress- activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF). {ECO:0000269|PubMed:10559204, ECO:0000269|PubMed:10924369, ECO:0000269|PubMed:17396146}.
• Pathway: MAPK signaling pathway - Homo sapiens (human);EGF-Core;MAPK Signaling Pathway;p38 MAPK signaling pathway (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.177
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.46

Haploinsufficiency Scores

• pHI: 0.400
• hipred: Y
• hipred_score: 0.825
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taok3

Gene ontology

• Biological process: MAPK cascade;activation of MAPKK activity;DNA repair;protein phosphorylation;negative regulation of protein kinase activity;cellular response to DNA damage stimulus;mitotic G2 DNA damage checkpoint;signal transduction by protein phosphorylation;stress-activated protein kinase signaling cascade;activation of protein kinase activity;positive regulation of stress-activated MAPK cascade;positive regulation of JUN kinase activity;negative regulation of JNK cascade;positive regulation of JNK cascade;protein autophosphorylation
• Cellular component: nucleus;cytoplasm;plasma membrane
• Molecular function: protein serine/threonine kinase activity;MAP kinase kinase kinase activity;protein kinase inhibitor activity;protein binding;ATP binding;transferase activity