| Variant ID | 20130 |
|---|---|
| Entrez Gene ID | 6416 |
| Gene | MAP2K4 (GeneCards) |
| Location | hg19 17:12365940-12365940
hg38 17:12462623-12462623 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.12365940 C>T (Genome Assembly: GRCh37) |
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0826 |
| CADD Raw score (version 1.3) | 0.224026 (Deleterious) |
| FATHMM raw prediction score | 0.12452 (Tolerated) |
| Deleterious probability by DeFine | 0.4536 (Neutral) |
| 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 ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |