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RD3 retinal degeneration 3 [ Homo sapiens (human) ]

Gene ID: 343035, updated on 5-Nov-2017
Official Symbol
RD3provided by HGNC
Official Full Name
retinal degeneration 3provided by HGNC
Primary source
HGNC:HGNC:19689
See related
Ensembl:ENSG00000198570 MIM:180040; Vega:OTTHUMG00000037002
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
Location:
1q32.3
Exon count:
3
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (211476522..211492917, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (211649864..211666259, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 467 Neighboring gene sorting nexin 25 pseudogene 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 2 Neighboring gene uncharacterized LOC107985261 Neighboring gene uncharacterized LOC107985260 Neighboring gene solute carrier family 30 member 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leber congenital amaurosis 12
MedGen: C1857743 OMIM: 610612 GeneReviews: Leber Congenital Amaurosis
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NHGRI GWAS Catalog

Description
Genome-wide association study of retinopathy in individuals without diabetes.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein RD3
Names
retinal degeneration protein 3

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.

Genomic

  1. NG_013042.1 RefSeqGene

    Range
    5001..21396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164688.1NP_001158160.1  protein RD3

    See identical proteins and their annotated locations for NP_001158160.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AY191519, BC035651, BX647803
    Consensus CDS
    CCDS1498.1
    UniProtKB/Swiss-Prot
    Q7Z3Z2
    Conserved Domains (1) summary
    pfam14473
    Location:19131
    RD3; RD3 protein
  2. NM_183059.2NP_898882.1  protein RD3

    See identical proteins and their annotated locations for NP_898882.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AY191519, BC035651
    Consensus CDS
    CCDS1498.1
    UniProtKB/Swiss-Prot
    Q7Z3Z2
    Related
    ENSP00000355969.4, OTTHUMP00000035058, ENST00000367002.4, OTTHUMT00000089837
    Conserved Domains (1) summary
    pfam14473
    Location:19131
    RD3; RD3 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    211476522..211492917 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001151.1XP_016856640.1  protein RD3 isoform X1

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    212922299..212938679 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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