GeneBe

MAPK15

protein-coding

mitogen-activated protein kinase 15, the group of Mitogen-activated protein kinases

Gene summary

Enables MAP kinase activity and chromatin binding activity. Involved in several processes, including dopamine uptake; protein localization to ciliary transition zone; and regulation of COPII vesicle coating. Located in several cellular components, including Golgi apparatus; autophagosome; and microtubule organizing center. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_139021.3

Inheritance

—

ClinVar variants

U:128B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.11

Max pathogenic AF

—

Genomic locus

chr8:143,716,340-143,722,458

External References & Databases

Ensembl (ENSG00000181085)NCBI Gene (225689)OMIM (618616)HGNC:24667GenCCUniProt (Q8TD08)AlphaFoldClinVar (MAPK15)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~6.1 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MAPK15 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 119
not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_139021.3. 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
2
clinvar
1
clinvar
 3
missense
118
clinvar
7
clinvar
1
clinvar
 126
nonsense
1
clinvar
 1
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
7
clinvar
 7
Total0012891138
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 47 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_139021.3RefSeqNP_620590.214MANE Select
ENST00000338033.9EnsemblENSP00000337691.414MANE Select
ENST00000395107.8EnsemblENSP00000378539.48Standard
ENST00000395108.2EnsemblENSP00000378540.28Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • IL-17 signaling pathway - Homo sapiens (human)

Biological Process

  • MAPK cascade
  • regulation of COPII vesicle coating
  • cellular response to DNA damage stimulus
  • endoplasmic reticulum organization
  • positive regulation of cell population proliferation

Molecular Function

  • chromatin binding
  • protein kinase activity
  • MAP kinase activity
  • protein binding
  • ATP binding

Cellular Component

  • extracellular region
  • nucleus
  • cytoplasm
  • autophagosome
  • Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000338033
Coding exons
14
Length
6200
Individuals with no LoFs
125518
Homozygous LoFs
0
Heterozygous LoFs
224
Defined
125742
p
0.000891
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-1.354153451.200.00002263415
Missense (PolyPhen)149131.661.13171398
Synonymous-0.1701561531.020.00001041194
Loss of Function-0.5343027.01.110.00000157271

Population LoF Frequency

PopulationCAFp-valueStatus
African0.00330.0032notable
Latino/Admixed American0.000770.00075rare
Ashkenazi Jewish00.0absent
East Asian0.00170.0016notable
Finnish0.0000970.000092rare
European (Non-Finnish)0.000750.00072rare
South Asian0.000760.00075rare
Other0.00160.0015notable

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Atypical MAPK protein that regulates several process such as autophagy, ciliogenesis, protein trafficking/secretion and genome integrity, in a kinase activity-dependent manner (PubMed:22948227, PubMed:24618899, PubMed:29021280, PubMed:21847093, PubMed:20733054). Controls both, basal and starvation-induced autophagy throught its interaction with GABARAP, MAP1LC3B and GABARAPL1 leading to autophagosome formation, SQSTM1 degradation and reduced MAP1LC3B inhibitory phosphorylation (PubMed:22948227). Regulates primary cilium formation and the localization of ciliary proteins involved in cilium structure, transport, and signaling (PubMed:29021280). Prevents the relocation of the sugar-adding enzymes from the Golgi to the endoplasmic reticulum, thereby restricting the production of sugar-coated proteins (PubMed:24618899). Upon amino-acid starvation, mediates transitional endoplasmic reticulum site disassembly and inhibition of secretion (PubMed:21847093). Binds to chromatin leading to MAPK15 activation and interaction with PCNA, that which protects genomic integrity by inhibiting MDM2- mediated degradation of PCNA (PubMed:20733054). Regulates DA transporter (DAT) activity and protein expression via activation of RhoA (PubMed:28842414). In response to H(2)O(2) treatment phosphorylates ELAVL1, thus preventing it from binding to the PDCD4 3'UTR and rendering the PDCD4 mRNA accessible to miR-21 and leading to its degradation and loss of protein expression (PubMed:26595526). Also functions in a kinase activity-independent manner as a negative regulator of growth (By similarity). Phosphorylates in vitro FOS and MBP (PubMed:11875070, PubMed:16484222, PubMed:20638370, PubMed:19166846). During oocyte maturation, plays a key role in the microtubule organization and meiotic cell cycle progression in oocytes, fertilized eggs, and early embryos (By similarity). Interacts with ESRRA promoting its re-localization from the nucleus to the cytoplasm and then prevents its transcriptional activity (PubMed:21190936). {ECO:0000250|UniProtKB:Q80Y86, ECO:0000250|UniProtKB:Q9Z2A6, ECO:0000269|PubMed:11875070, ECO:0000269|PubMed:16484222, ECO:0000269|PubMed:19166846, ECO:0000269|PubMed:20638370, ECO:0000269|PubMed:20733054, ECO:0000269|PubMed:21190936, ECO:0000269|PubMed:21847093, ECO:0000269|PubMed:22948227, ECO:0000269|PubMed:24618899, ECO:0000269|PubMed:26595526, ECO:0000269|PubMed:28842414, ECO:0000269|PubMed:29021280}.;

Recessive Scores

pRec
0.178

Intolerance Scores

LoFtool
0.938
RVIS EVS
0.57
RVIS percentile EVS
81.73

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.940

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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