| Variant ID | 5679 |
|---|---|
| Entrez Gene ID | 7048 |
| Gene | TGFBR2 (GeneCards) |
| Location | hg19 3:30677313-30677313
hg38 3:30635821-30635821 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.30677313 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1489 |
| CADD Raw score (version 1.3) | 0.514621 (Deleterious) |
| FATHMM raw prediction score | 0.14281 (Tolerated) |
| Deleterious probability by DeFine | 0.6157 (Deleterious) |
| Entrez Gene ID | 7048 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TGFBR2 (GeneCards) |
| Number of variants in TGFBR2 in this database | 7 (view all the variants) |
| Full name | transforming growth factor beta receptor 2 |
| Band | 3p24.1 |
| Other IDs | Vega: OTTHUMG00000130569 OMIM: 190182 HGNC: HGNC:11773 Ensembl: ENSG00000163513 |
| Other names | AAT3, FAA3, LDS2, MFS2, RIIC, LDS1B, LDS2B, TAAD2, TBRII, TBR-ii, TGFR-2, TGFbeta-RII |
| Summary | The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.16 (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; |