GeneID: 266
Names
| Common Name: | RNF113B | Type: | Gene |
|---|---|---|---|
| Chromosome: | 13 (NC_000013.11) | Locus: | NM_178861.5 (RNF113B) |
| HUGO Symbol: | RNF113B | Full Name: | ring finger protein 113B |
| Exons: | 2 | Introns: | 1 |
Description:
RNF113B is a retrogene, which gained an intron during evolution as the result of mutations and emergence of new splice sites. It encodes a ring finger protein with unknown functions and exhibits tissue-specific splicing. The spliced form is predominantly expressed in testis. A variation in RNF113B was associated with Hb F response to hydroxyurea in sickle cell disease cohorts.
Synonyms: ZNF183L1
Comments:
N/A
Number of entries/variants: 1
Sequence Viewer
Publications / Origin
- Szcześniak MW, Ciomborowska J, Nowak W, Rogozin IB, Makałowska I, Primate and rodent specific intron gains and the origin of retrogenes with splice variants., Mol. Biol. Evol., 28(1), 33-7, 2011 PubMed
- Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed