| Variant ID | 24725 |
|---|---|
| Entrez Gene ID | 28951 |
| Gene | TRIB2 (GeneCards) |
| Location | hg19 2:13034630-13034630
hg38 2:12894504-12894504 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.13034630 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.4609 |
| CADD Raw score (version 1.3) | -0.388091 (Deleterious) |
| FATHMM raw prediction score | 0.06851 (Tolerated) |
| Deleterious probability by DeFine | 0.2537 (Neutral) |
| Entrez Gene ID | 28951 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRIB2 (GeneCards) |
| Number of variants in TRIB2 in this database | 3 (view all the variants) |
| Full name | tribbles pseudokinase 2 |
| Band | 2p24.3 |
| Other IDs | Vega: OTTHUMG00000090575 OMIM: 609462 HGNC: HGNC:30809 Ensembl: ENSG00000071575 |
| Other names | C5FW, TRB2, GS3955 |
| Summary | This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |