| Variant ID | 16128 |
|---|---|
| Entrez Gene ID | 3709 |
| Gene | ITPR2 (GeneCards) |
| Location | hg19 12:26973523-26973523
hg38 12:26820590-26820590 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.26973523 A>G (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2855 |
| CADD Raw score (version 1.3) | -0.266096 (Deleterious) |
| FATHMM raw prediction score | 0.06296 (Tolerated) |
| Deleterious probability by DeFine | 0.3068 (Neutral) |
| Entrez Gene ID | 3709 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITPR2 (GeneCards) |
| Number of variants in ITPR2 in this database | 6 (view all the variants) |
| Full name | inositol 1,4,5-trisphosphate receptor type 2 |
| Band | 12p11.23 |
| Other IDs | Vega: OTTHUMG00000169181 OMIM: 600144 HGNC: HGNC:6181 Ensembl: ENSG00000123104 |
| Other names | ANHD, IP3R2, CFAP48, INSP3R2 |
| Summary | The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] |
| Individual ID | 29217584.03 (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; |