| Entrez Gene ID | 653247 |
|---|---|
| Official Gene Symbol | PRB2 (GeneCards) |
| Full name | proline rich protein BstNI subfamily 2 |
| Location | 12p13.2 |
| Other ids | Vega : OTTHUMG00000156975 MIM : 168810 HGNC : HGNC:9338 Ensembl : ENSG00000121335 |
| Other names | Ps, cP7, IB-9, PRPPRB1 |
| Summary | This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16077 | 653247 | PRB2 | 12 | 11606447 | 11606447 | Asymptomatic | HiSeq X Ten |
| 17000 | 653247 | PRB2 | 12 | 11651728 | 11651728 | Cockayne syndrome | HiSeq X Ten |
| 23643 | 653247 | PRB2 | 12 | 11609526 | 11609526 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27429 | 653247 | PRB2 | 12 | 11608108 | 11608108 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27585 | 653247 | PRB2 | 12 | 11664471 | 11664471 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29387 | 653247 | PRB2 | 12 | 11546454 | 11546454 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |