Overview

Variant ID 8381
Entrez Gene ID 5601
Gene MAPK9 (GeneCards)
Location hg19 5:179693835-179693835
hg38 5:180266835-180266835
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000005.9:g.179693835 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1656
CADD Raw score (version 1.3) 0.150667 (Deleterious)
FATHMM raw prediction score 0.07413 (Tolerated)
Deleterious probability by DeFine 0.4617 (Neutral)
Entrez Gene ID 5601 (NCBI Gene)
Official Gene Symbol MAPK9 (GeneCards)
Number of variants in MAPK9 in this database 3 (view all the variants)
Full name mitogen-activated protein kinase 9
Band 5q35.3
Other IDs Vega: OTTHUMG00000130934
OMIM: 602896
HGNC: HGNC:6886
Ensembl: ENSG00000050748
Other names JNK2, SAPK, p54a, JNK2A, JNK2B, PRKM9, JNK-55, SAPK1a, JNK2BETA, p54aSAPK, JNK2ALPHA
Summary The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]

Individual #1

Individual ID 29217584.13 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;