MAPK7

mitogen-activated protein kinase 7, the group of Mitogen-activated protein kinases|Armadillo like helical domain containing

Basic information

Region (hg38): 17:19377720-19383544

Previous symbols: [ "PRKM7" ]

Links

ENSG00000166484 ∙ NCBI:5598 ∙ OMIM:602521 ∙ HGNC:6880 ∙ Uniprot:Q13164 ∙ 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 MAPK7 gene.

• Inborn genetic diseases (32 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPK7 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				1		1
missense			32		1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	1	1

Variants in MAPK7

This is a list of pathogenic ClinVar variants found in the MAPK7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-19378992-C-T		not specified	Uncertain significance (Feb 05, 2024)
17-19379839-A-G		not specified	Uncertain significance (Sep 16, 2021)
17-19379911-T-C		not specified	Uncertain significance (Jun 09, 2022)
17-19379922-G-A		not specified	Uncertain significance (Dec 02, 2022)
17-19380687-C-T		not specified	Uncertain significance (Aug 02, 2022)
17-19380859-T-C		not specified	Uncertain significance (Aug 02, 2021)
17-19380949-C-G		not specified	Uncertain significance (Dec 16, 2023)
17-19381003-A-G		not specified	Uncertain significance (Jun 16, 2023)
17-19381062-G-A		not specified	Uncertain significance (Dec 28, 2022)
17-19381071-G-T		not specified	Uncertain significance (Jan 22, 2024)
17-19381093-G-A		not specified	Uncertain significance (Dec 16, 2022)
17-19381095-G-A		Scoliosis, isolated, susceptibility to, 1	Pathogenic (-)
17-19381186-G-A		not specified	Uncertain significance (Sep 16, 2021)
17-19381195-G-A		not specified	Uncertain significance (Aug 23, 2021)
17-19381209-G-A		not specified	Uncertain significance (Sep 22, 2022)
17-19381281-G-C		not specified	Uncertain significance (Nov 30, 2021)
17-19381288-C-T		not specified	Uncertain significance (Jun 29, 2023)
17-19381314-C-T		not specified	Uncertain significance (Nov 29, 2023)
17-19381315-G-A		not specified	Uncertain significance (Apr 26, 2023)
17-19381414-A-G		not specified	Uncertain significance (Aug 17, 2022)
17-19381428-C-T		not specified	Uncertain significance (Feb 15, 2023)
17-19381438-G-A		not specified	Uncertain significance (Dec 05, 2022)
17-19381438-G-T		not specified	Uncertain significance (Aug 08, 2023)
17-19381470-A-G		not specified	Uncertain significance (Aug 13, 2021)
17-19381510-C-T		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAPK7	protein_coding	protein_coding	ENST00000308406	6	5824

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00310	0.996	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	402	517	0.777	0.0000318	5195
Missense in Polyphen		36	57.051	0.63101		598
Synonymous	-1.61	242	212	1.14	0.0000126	1819
Loss of Function	3.07	9	25.8	0.349	0.00000133	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000584	0.0000584
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000630	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000383	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras- independent and MAP2K5-dependent pathway. May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/ERK1 or MEK2/ERK2 pathways. Phosphorylates SGK1 at Ser-78 and this is required for growth factor-induced cell cycle progression. Involved in the regulation of p53/TP53 by disrupting the PML-MDM2 interaction. {ECO:0000269|PubMed:11254654, ECO:0000269|PubMed:11278431, ECO:0000269|PubMed:22869143, ECO:0000269|PubMed:9384584, ECO:0000269|PubMed:9790194}.
• Pathway: Oxytocin signaling pathway - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Gap junction - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);VEGF Signaling Pathway;EGF-Core;MicroRNAs in cardiomyocyte hypertrophy;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Integrin-mediated Cell Adhesion;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Signal Transduction of S1P Receptor;Cardiac Hypertrophic Response;MAPK Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;ESC Pluripotency Pathways;EGF-EGFR Signaling Pathway;Insulin Signaling;Developmental Biology;Signaling by GPCR;RAGE;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signal Transduction;Signaling by Interleukins;role of erk5 in neuronal survival pathway;mapkinase signaling pathway;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;Toll-Like Receptors Cascades;Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Cellular responses to stress;TCR;Innate Immune System;Immune System;Fibroblast growth factor-1;Nuclear Events (kinase and transcription factor activation);TGF-beta super family signaling pathway canonical;Cellular responses to external stimuli;IL-7 signaling;ERKs are inactivated;Signaling by NTRK1 (TRKA);Signaling by NTRKs;ERK/MAPK targets;EGFR1;MAPK targets/ Nuclear events mediated by MAP kinases;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;ErbB1 downstream signaling;MyD88 dependent cascade initiated on endosome;JAK STAT pathway and regulation;EPO signaling;Signalling to ERK5;RET signaling;Axon guidance;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;Signaling by Receptor Tyrosine Kinases;VEGF;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;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;Trk receptor signaling mediated by the MAPK pathway (Consensus)

Recessive Scores

• pRec: 0.206

Intolerance Scores

• loftool: 0.504
• rvis_EVS: -1.31
• rvis_percentile_EVS: 4.89

Haploinsufficiency Scores

• pHI: 0.617
• hipred: Y
• hipred_score: 0.655
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.996

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mapk7
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; 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); 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); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; renal/urinary system phenotype

Zebrafish Information Network

• Gene name: mapk7
• Affected structure: vertebra
• Phenotype tag: abnormal
• Phenotype quality: decreased occurrence

Gene ontology

• Biological process: MAPK cascade;cell cycle;signal transduction;axon guidance;regulation of gene expression;peptidyl-serine phosphorylation;cAMP-mediated signaling;negative regulation of heterotypic cell-cell adhesion;intracellular signal transduction;positive regulation of transcription from RNA polymerase II promoter in response to stress;regulation of angiogenesis;positive regulation of transcription by RNA polymerase II;negative regulation of inflammatory response;positive regulation of protein metabolic process;negative regulation of cyclic-nucleotide phosphodiesterase activity;negative regulation of response to cytokine stimulus;cellular response to hydrogen peroxide;negative regulation of calcineurin-NFAT signaling cascade;cellular response to organic substance;cellular response to growth factor stimulus;cellular response to laminar fluid shear stress;cellular response to transforming growth factor beta stimulus;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;negative regulation of endothelial cell apoptotic process;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;PML body
• Molecular function: protein serine/threonine kinase activity;MAP kinase activity;protein binding;ATP binding;mitogen-activated protein kinase binding