| Variant ID | 3237 |
|---|---|
| Entrez Gene ID | 9448 |
| Gene | MAP4K4 (GeneCards) |
| Location | hg19 2:102430640-102430640
hg38 2:101814178-101814178 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.102430640 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2433 |
| CADD Raw score (version 1.3) | 0.145327 (Deleterious) |
| FATHMM raw prediction score | 0.08839 (Tolerated) |
| Deleterious probability by DeFine | 0.313 (Neutral) |
| Entrez Gene ID | 9448 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP4K4 (GeneCards) |
| Number of variants in MAP4K4 in this database | 4 (view all the variants) |
| Full name | mitogen-activated protein kinase kinase kinase kinase 4 |
| Band | 2q11.2 |
| Other IDs | Vega: OTTHUMG00000155394 OMIM: 604666 HGNC: HGNC:6866 Ensembl: ENSG00000071054 |
| Other names | HGK, NIK, MEKKK4, FLH21957, HEL-S-31 |
| Summary | The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |