Overview

Variant ID 23903
Entrez Gene ID 6416
Gene MAP2K4 (GeneCards)
Location hg19 17:12259781-12259781
hg38 17:12356464-12356464
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000017.10:g.12259781 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 81195210

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.0006
SNP ID (dbSNP ID version 137) rs113029462
EIGEN score 0.0038
CADD Raw score (version 1.3) -0.069232 (Deleterious)
FATHMM raw prediction score 0.15187 (Tolerated)
Deleterious probability by DeFine 0.8643 (Deleterious)
Entrez Gene ID 6416 (NCBI Gene)
Official Gene Symbol MAP2K4 (GeneCards)
Number of variants in MAP2K4 in this database 9 (view all the variants)
Full name mitogen-activated protein kinase kinase 4
Band 17p12
Other IDs Vega: OTTHUMG00000178267
OMIM: 601335
HGNC: HGNC:6844
Ensembl: ENSG00000065559
Other names JNKK, MEK4, MKK4, SEK1, SKK1, JNKK1, SERK1, MAPKK4, PRKMK4, SAPKK1, SAPKK-1
Summary This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family 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. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;