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

External Links

NCBI Gene	UniProtKB
PDB	HGNC

Sequence Viewer

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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

Created on 2019-09-23 17:24:41, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-09-23 17:24:41	The IthaGenes Curation Team	Created

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