MAPK7
mitogen-activated protein kinase 7, the group of Mitogen-activated protein kinases|Armadillo like helical domain containing
Basic information
Region (hg38): 17:19377721-19383544
Previous symbols: [ "PRKM7" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| missense | 46 | 47 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 46 | 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 |
|---|---|---|---|---|
| 17-19378934-G-A | not specified | Uncertain significance (May 14, 2024) | ||
| 17-19378992-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
| 17-19379112-C-T | not specified | Uncertain significance (Nov 08, 2024) | ||
| 17-19379120-C-T | not specified | Uncertain significance (Mar 21, 2024) | ||
| 17-19379839-A-G | not specified | Uncertain significance (Sep 16, 2021) | ||
| 17-19379911-T-C | not specified | Uncertain significance (Jun 09, 2022) | ||
| 17-19379914-G-T | not specified | Uncertain significance (Jul 23, 2024) | ||
| 17-19379922-G-A | not specified | Uncertain significance (Dec 02, 2022) | ||
| 17-19380675-C-A | not specified | Uncertain significance (Nov 14, 2024) | ||
| 17-19380687-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
| 17-19380859-T-C | not specified | Uncertain significance (Aug 02, 2021) | ||
| 17-19380928-C-T | not specified | Uncertain significance (Aug 21, 2024) | ||
| 17-19380949-C-G | not specified | Uncertain significance (Dec 16, 2023) | ||
| 17-19381003-A-G | not specified | Uncertain significance (Jun 16, 2023) | ||
| 17-19381009-A-G | not specified | Uncertain significance (Aug 20, 2024) | ||
| 17-19381057-C-T | not specified | Uncertain significance (Oct 19, 2024) | ||
| 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) | ||
| 17-19381251-G-T | not specified | Uncertain significance (Jul 17, 2024) | ||
| 17-19381281-G-C | not specified | Uncertain significance (Nov 30, 2021) |
GnomAD
Source:
| 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:
- 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