RD3 (RD3 regulator of GUCY2D)

2017-04-01  

Identity

HGNC
RD3
LOCATION
1q32.3
LOCUSID
343035
ALIAS
C1orf36,LCA12
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
324937722020Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.4
324937722020Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.4
305592912019Retinal degeneration 3 (RD3) protein, a retinal guanylyl cyclase regulator, forms a monomeric and elongated four-helix bundle.10
305592912019Retinal degeneration 3 (RD3) protein, a retinal guanylyl cyclase regulator, forms a monomeric and elongated four-helix bundle.10
290306142017Retinal Degeneration Protein 3 (RD3) in normal human tissues: Novel insights.5
290306142017Retinal Degeneration Protein 3 (RD3) in normal human tissues: Novel insights.5
263752492015RD3 loss dictates high-risk aggressive neuroblastoma and poor clinical outcomes.10
263752492015RD3 loss dictates high-risk aggressive neuroblastoma and poor clinical outcomes.10
233081012013Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.11
233081012013Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.11
225317062012Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.15
225317062012Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.15
219288302011Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.34
219288302011Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.34
171864642006Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.72

Citation

Dessen P

RD3 (RD3 regulator of GUCY2D)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

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