| Variant ID | 16960 |
|---|---|
| Entrez Gene ID | 160335 |
| Gene | TMTC2 (GeneCards) |
| Location | hg19 12:84756394-84756394
hg38 12:84362615-84362615 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.84756394 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0607 |
| CADD Raw score (version 1.3) | 1.507847 (Deleterious) |
| FATHMM raw prediction score | 0.45848 (Tolerated) |
| Deleterious probability by DeFine | 0.0864 (Neutral) |
| Entrez Gene ID | 160335 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMTC2 (GeneCards) |
| Number of variants in TMTC2 in this database | 27 (view all the variants) |
| Full name | transmembrane and tetratricopeptide repeat containing 2 |
| Band | 12q21.31 |
| Other IDs | Vega: OTTHUMG00000169736 OMIM: 615856 HGNC: HGNC:25440 Ensembl: ENSG00000179104 |
| Other names | IBDBP1 |
| Summary | The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] |
| 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; |