RD3 RD3 regulator of GUCY2D [Homo sapiens (human)] - Gene

Summary

Official Symbol: RD3provided by HGNC
Official Full Name: RD3 regulator of GUCY2Dprovided by HGNC
Primary source: HGNC:HGNC:19689
See related: Ensembl:ENSG00000198570 MIM:180040; AllianceGenome:HGNC:19689
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LCA12; C1orf36
Summary: This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (211476522..211492162, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (210722616..210738242, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (211649864..211665504, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.
Title: Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.
Study stratified expression of RD3 in different cell types and subcellular location of retina. We demonstrated extensive positive RD3 immunoreactivity in various normal tissues and particularly strong dot-like perinuclear staining in the lining epithelial cells, suggesting that RD3 may play an important role in the normal functioning of epithelial cells. RD3 expression is limited in the CNS.
Title: Retinal Degeneration Protein 3 (RD3) in normal human tissues: Novel insights.
The NMR structure of RD3 presented here provides a structural basis for elucidating RD3-RetGC interactions relevant for normal vision or blindness.
Title: Retinal degeneration 3 (RD3) protein, a retinal guanylyl cyclase regulator, forms a monomeric and elongated four-helix bundle.
Re-expressing RD3 in metastatic site-derived aggressive cells reverted their metastatic potential both in vitro and in vivo. Conversely muting RD3 in neuroblastoma cells not only heightened invasion/migration but also dictated aggressive disease with metastasis.
Title: RD3 loss dictates high-risk aggressive neuroblastoma and poor clinical outcomes.
This study reports the results of an international study aimed at delineating the clinical and molecular spectrum of RD3 mutations in retinal dystrophies.
Title: Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Mutations in RD3 are a very rare cause of Leber's congenital amaurosis (LCA) associated with an extremely severe form of retinal dystrophy.
Title: Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
RD3 suppresses the basal catalytic activity of guanylyl cyclase activating proteins (GCAP) in a noncompetitive manner.
Title: Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.
the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
Title: Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Identification and sequence analysis of C1orf36.
Title: Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis 12 MedGen: C1857743 OMIM: 610612 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of retinopathy in individuals without diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of guanylate cyclase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual perception	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cone photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info
located_in rod photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein RD3

Names: retinal degeneration 3, GUCY2D regulator; retinal degeneration protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.