RD3 (RD3 regulator of GUCY2D)

2017-04-01  

Identity

HGNC
LOCATION
1q32.3
LOCUSID
ALIAS
C1orf36,LCA12
FUSION GENES

Other Information

Locus ID:

NCBI: 343035
MIM: 180040
HGNC: 19689
Ensembl: ENSG00000198570

Variants:

dbSNP: 343035
ClinVar: 343035
TCGA: ENSG00000198570
COSMIC: RD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198570ENST00000367002Q7Z3Z2

Expression (GTEx)

0
1
2

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
219288302011Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.24
129147642003Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.0
171864642006Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.0
225317062012Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.0
233081012013Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.0
263752492015RD3 loss dictates high-risk aggressive neuroblastoma and poor clinical outcomes.0
290306142017Retinal Degeneration Protein 3 (RD3) in normal human tissues: Novel insights.0
305592912019Retinal degeneration 3 (RD3) protein, a retinal guanylyl cyclase regulator, forms a monomeric and elongated four-helix bundle.0

Citation

Dessen P

RD3 (RD3 regulator of GUCY2D)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56744/rd3