| Variant ID | 14706 |
|---|---|
| Entrez Gene ID | 150 |
| Gene | ADRA2A (GeneCards) |
| Location | hg19 10:113246345-113246345
hg38 10:111486587-111486587 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.113246345 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0217 |
| CADD Raw score (version 1.3) | 0.383701 (Deleterious) |
| FATHMM raw prediction score | 0.12919 (Tolerated) |
| Deleterious probability by DeFine | 0.4736 (Neutral) |
| Entrez Gene ID | 150 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADRA2A (GeneCards) |
| Number of variants in ADRA2A in this database | 17 (view all the variants) |
| Full name | adrenoceptor alpha 2A |
| Band | 10q25.2 |
| Other IDs | Vega: OTTHUMG00000019050 OMIM: 104210 HGNC: HGNC:281 Ensembl: ENSG00000150594 |
| Other names | ADRA2, ADRAR, ZNF32, ADRA2R, ALPHA2AAR |
| Summary | Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] |
| 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; |