GeneBe

MAP2K5

mitogen-activated protein kinase kinase 5, the group of Mitogen-activated protein kinase kinases

Basic information

Region (hg38): 15:67542703-67807117

Previous symbols: [ "PRKMK5" ]

Links

ENSG00000137764 ∙ NCBI:5607 ∙ OMIM:602520 ∙ HGNC:6845 ∙ Uniprot:Q13163 ∙ 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 MAP2K5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP2K5 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
0
missense
12
clinvar
 12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
splice region
3
 3
non coding
0
Total 0 0 13 0 0

Variants in MAP2K5

This is a list of pathogenic ClinVar variants found in the MAP2K5 region.

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

Position Type Phenotype Significance ClinVar
15-67543355-G-T not specified Uncertain significance (Jan 31, 2024)3122785
15-67550089-C-T Benign (Aug 16, 2018)733231
15-67563296-T-G not specified Uncertain significance (Dec 27, 2023)3122784
15-67580796-A-G not specified Uncertain significance (Feb 21, 2024)3122786
15-67585907-G-A not specified Uncertain significance (Mar 30, 2024)3292975
15-67586855-C-T not specified Uncertain significance (Feb 27, 2024)2370341
15-67592963-G-A not specified Uncertain significance (Jun 06, 2023)2510964
15-67600746-A-G not specified Uncertain significance (May 07, 2024)3292977
15-67646223-A-G Benign (Jan 19, 2018)776918
15-67646403-A-G not specified Uncertain significance (Jun 12, 2023)2508055
15-67646431-T-C not specified Uncertain significance (Mar 07, 2024)3122787
15-67658571-A-G not specified Uncertain significance (Aug 12, 2022)2306794
15-67658613-C-T not specified Uncertain significance (Nov 10, 2022)2325653
15-67692480-C-T Benign (Jul 31, 2018)708695
15-67703401-T-C not specified Uncertain significance (Apr 11, 2023)2535958
15-67727946-G-A Uncertain significance (Mar 01, 2024)3027374
15-67748246-G-C not specified Uncertain significance (Jun 17, 2024)3292978
15-67806709-C-T not specified Uncertain significance (Dec 20, 2023)3122783
15-67806710-G-A not specified Uncertain significance (Apr 08, 2024)3292974
15-67806710-G-T not specified Uncertain significance (Mar 31, 2024)3292976
15-67806734-A-G not specified Uncertain significance (Nov 19, 2022)2328258

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAP2K5protein_codingprotein_codingENST00000178640 22264415
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.004770.9951257280201257480.0000795
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.021612510.6410.00001342916
Missense in Polyphen4188.8820.461291057
Synonymous0.05338989.60.9930.00000519829
Loss of Function3.841135.80.3080.00000177421

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001850.000185
Ashkenazi Jewish0.000.00
East Asian0.00005450.0000544
Finnish0.000.00
European (Non-Finnish)0.00008820.0000879
Middle Eastern0.00005450.0000544
South Asian0.0001340.000131
Other0.0003290.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and angiogenesis. {ECO:0000269|PubMed:7759517, ECO:0000269|PubMed:9384584}.;
Pathway
Oxytocin signaling pathway - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Gap junction - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);VEGF Signaling Pathway;EGF-Core;MicroRNAs in cardiomyocyte hypertrophy;Integrin-mediated Cell Adhesion;Signaling Pathways in Glioblastoma;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Cardiac Hypertrophic Response;MAPK Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;ESC Pluripotency Pathways;EGF-EGFR Signaling Pathway;Insulin Signaling;Signal Transduction;role of erk5 in neuronal survival pathway;mapkinase signaling pathway;IL-1 p38;IL-1 JNK;TLR p38;IL-7 signaling;Signaling by NTRK1 (TRKA);Signaling by NTRKs;EGFR1;ErbB1 downstream signaling;JAK STAT pathway and regulation;EPO signaling;Signalling to ERK5;TLR ECSIT MEKK1 JNK;TLR ECSIT MEKK1 p38;TNFalpha;TLR JNK;Signaling by Receptor Tyrosine Kinases;VEGF;Trk receptor signaling mediated by the MAPK pathway (Consensus)

Recessive Scores

pRec
0.219

Intolerance Scores

loftool
0.775
rvis_EVS
-0.69
rvis_percentile_EVS
14.97

Haploinsufficiency Scores

pHI
0.384
hipred
Y
hipred_score
0.651
ghis
0.621

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.999

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Map2k5
Phenotype
embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal 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); growth/size/body region phenotype; muscle phenotype; cellular phenotype;

Zebrafish Information Network

Gene name
map2k5
Affected structure
optic tectum
Phenotype tag
abnormal
Phenotype quality
decreased size

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;activation of MAPK activity;signal transduction;heart development;peptidyl-tyrosine phosphorylation;signal transduction by protein phosphorylation;positive regulation of cell growth;stress-activated protein kinase signaling cascade;negative regulation of NF-kappaB transcription factor activity;activation of protein kinase activity;negative regulation of heterotypic cell-cell adhesion;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;negative regulation of interleukin-8 biosynthetic process;positive regulation of transcription by RNA polymerase II;positive regulation of epithelial cell proliferation;positive regulation of protein metabolic process;negative regulation of response to cytokine stimulus;ERK5 cascade;cellular response to growth factor stimulus;cellular response to laminar fluid shear stress;negative regulation of cell migration involved in sprouting angiogenesis;negative regulation of chemokine (C-X-C motif) ligand 2 production;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular component
nucleus;cytoplasm;spindle;cytosol
Molecular function
protein kinase activity;protein serine/threonine kinase activity;MAP kinase kinase activity;protein tyrosine kinase activity;protein binding;ATP binding;metal ion binding