GeneBe

TAOK2

protein-coding

TAO kinase 2, the group of Mitogen-activated protein kinase kinase kinases

Gene summary

Enables mitogen-activated protein kinase kinase binding activity; neuropilin binding activity; and protein serine/threonine kinase activity. Involved in several processes, including focal adhesion assembly; intracellular signal transduction; and positive regulation of MAPK cascade. Located in cytoplasmic vesicle; nucleolus; and nucleoplasm. Part of signaling receptor complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_016151.4

Inheritance

AR, AD

ClinVar variants

U:512B:297

Top phenotype

neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr16:29,973,868-29,992,261

External References & Databases

Ensembl (ENSG00000149930)NCBI Gene (9344)OMIM (613199)HGNC:16835GenCCUniProt (Q9UL54)AlphaFoldClinVar (TAOK2)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~18.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

immunodeficiency diseaseLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0021094

Submitter: Ambry Genetics

neurodevelopmental disorderSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

autism spectrum disorderLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0005258

Submitter: Ambry Genetics

inborn error of immunityLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0003778

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TAOK2 variants in ClinVar

7 Conditions Cataloged
not providedTotal: 866
not specifiedTotal: 158
TAOK2-related disorderTotal: 32
See casesTotal: 2
Neurodevelopmental disorderTotal: 1
AutismTotal: 1
TAOK2-associated neurodevelopmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016151.4. 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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
255
clinvar
13
clinvar
 271
missense
488
clinvar
24
clinvar
4
clinvar
 516
nonsense
4
clinvar
 4
start loss
0
frameshift
10
clinvar
 10
splice donor/acceptor (+/-2bp)
7
clinvar
1
clinvar
 8
Total0051228017809
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_016151.4RefSeqNP_057235.215MANE Select
ENST00000308893.9EnsemblENSP00000310094.415MANE Select
NM_001252043.2RefSeqNP_001238972.116Standard
NM_004783.4RefSeqNP_004774.118Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
taok2bDanio rerio

Structure: ventricular system

Quality: decreased size

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • MAPK signaling pathway - Homo sapiens (human)
  • EGF-Core
  • MAPK Signaling Pathway
  • p38 MAPK signaling pathway

Biological Process

  • activation of MAPKK activity
  • activation of MAPK activity
  • regulation of cell growth
  • protein targeting to membrane
  • apoptotic process

Molecular Function

  • protein serine/threonine kinase activity
  • MAP kinase kinase kinase activity
  • ATP binding
  • mitogen-activated protein kinase kinase binding
  • neuropilin binding

Cellular Component

  • nucleus
  • nucleolus
  • cytoplasm
  • cytosol
  • actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000308893
Coding exons
15
Length
18621
Individuals with no LoFs
125703
Homozygous LoFs
0
Heterozygous LoFs
42
Defined
125745
p
0.000167
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense3.215187680.6740.00005117825
Missense (PolyPhen)146281.250.519112859
Synonymous-1.093313071.080.00001762673
Loss of Function5.97754.70.1280.00000294576

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000130.00012rare
Latino/Admixed American0.000260.00020rare
Ashkenazi Jewish00.0absent
East Asian0.0000540.000054rare
Finnish0.000740.00074rare
European (Non-Finnish)0.000130.00013rare
South Asian0.0000330.000033rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. 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. Isoform 1, but not isoform 2, plays a role in apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation. This function, which requires the activation of MAPK8/JNK and nuclear localization of C-terminally truncated isoform 1, may be linked to the mitochondrial CASP9-associated death pathway. Isoform 1 binds to microtubules and affects their organization and stability independently of its kinase activity. Prevents MAP3K7-mediated activation of CHUK, and thus NF-kappa-B activation, but not that of MAPK8/JNK. May play a role in the osmotic stress-MAPK8 pathway. Isoform 2, but not isoform 1, is required for PCDH8 endocytosis. Following homophilic interactions between PCDH8 extracellular domains, isoform 2 phosphorylates and activates MAPK14/p38 MAPK which in turn phosphorylates isoform 2. This process leads to PCDH8 endocytosis and CDH2 cointernalization. Both isoforms are involved in MAPK14 phosphorylation. {ECO:0000269|PubMed:10660600, ECO:0000269|PubMed:11279118, ECO:0000269|PubMed:12639963, ECO:0000269|PubMed:12665513, ECO:0000269|PubMed:13679851, ECO:0000269|PubMed:16893890, ECO:0000269|PubMed:17158878, ECO:0000269|PubMed:17396146}.;

Recessive Scores

pRec
0.185

Intolerance Scores

LoFtool
0.267
RVIS EVS
-2.85
RVIS percentile EVS
0.6

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.992

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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