PRCD Gene (Protein Coding)

Photoreceptor Disc Component

GC17P076527
GIFtS:
28
This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] See more...

Aliases for PRCD Gene

Aliases for PRCD Gene

  • Photoreceptor Disc Component 2 3 5
  • Progressive Rod-Cone Degeneration Protein 3 4
  • Photoreceptor Disk Component PRCD 3 4
  • RP36 2 3
  • Progressive Rod-Cone Degeneration 2
  • PRCD 5

External Ids for PRCD Gene

Previous GeneCards Identifiers for PRCD Gene

  • GC17U900816
  • GC17P072046
  • GC17P074523
  • GC17P069951

Summaries for PRCD Gene

Entrez Gene Summary for PRCD Gene

  • This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for PRCD Gene

PRCD (Photoreceptor Disc Component) is a Protein Coding gene. Diseases associated with PRCD include Retinitis Pigmentosa 36 and Retinitis Pigmentosa.

UniProtKB/Swiss-Prot Summary for PRCD Gene

Additional gene information for PRCD Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRCD Gene

Genomics for PRCD Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PRCD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRCD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRCD

Top Transcription factor binding sites by QIAGEN in the PRCD gene promoter:
  • Egr-2
  • GATA-3
  • HNF-3beta
  • NF-kappaB
  • RelA
  • Sp1
  • XBP-1
  • ZIC2

Genomic Locations for PRCD Gene

Latest Assembly
chr17:76,527,586-76,555,339
(GRCh38/hg38)
Size:
27,754 bases
Orientation:
Plus strand

Previous Assembly
chr17:74,523,668-74,541,458
(GRCh37/hg19 by Entrez Gene)
Size:
17,791 bases
Orientation:
Plus strand

chr17:74,523,668-74,549,660
(GRCh37/hg19 by Ensembl)
Size:
25,993 bases
Orientation:
Plus strand

Genomic View for PRCD Gene

Genes around PRCD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRCD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRCD Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRCD Gene

Proteins for PRCD Gene

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  3. Assay products for research

  • Protein details for PRCD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00LT1-PRCD_HUMAN
    Recommended name:
    Photoreceptor disk component PRCD
    Protein Accession:
    Q00LT1
    Secondary Accessions:
    • B9EJD4

    Protein attributes for PRCD Gene

    Size:
    54 amino acids
    Molecular mass:
    6007 Da
    Quaternary structure:
    • Interacts with RHO/rhodopsin; the interaction promotes PRCD stability.

neXtProt entry for PRCD Gene

Post-translational modifications for PRCD Gene

  • Palmitoylated at Cys-2 (PubMed:27613864). Palmitoylation is essential for protein stability and trafficking to the photoreceptor outer segment, but does not appear to be essential for membrane localization (PubMed:27613864). Probably palmitoylated by ZDHHC3 (PubMed:27613864).
  • Phosphorylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRCD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRCD Gene

Domains & Families for PRCD Gene

Gene Families for PRCD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PRCD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRCD Gene

GenScript: Design optimal peptide antigens:
  • Progressive rod-cone degeneration protein (PRCD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00LT1

UniProtKB/Swiss-Prot:

PRCD_HUMAN :
  • Belongs to the PRCD family.
Family:
  • Belongs to the PRCD family.
genes like me logo Genes that share domains with PRCD: view

Function for PRCD Gene

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  1. Animal Models for research
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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for PRCD Gene

UniProtKB/Swiss-Prot Function:
Involved in vision.

Phenotypes From GWAS Catalog for PRCD Gene

Gene Ontology (GO) - Molecular Function for PRCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002046 opsin binding IBA 21873635
genes like me logo Genes that share ontologies with PRCD: view
genes like me logo Genes that share phenotypes with PRCD: view

Human Phenotype Ontology for PRCD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRCD

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRCD Gene

Localization for PRCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRCD Gene

Cell projection, cilium, photoreceptor outer segment. Membrane. Lipid-anchor. Cytoplasmic side. Endoplasmic reticulum. Golgi apparatus. Note=Localizes to photoreceptor disk membranes in the photoreceptor outer segment (PubMed:27613864). The secretion in media described in PubMed:24992209 is probably an experimental artifact (PubMed:24992209). {ECO:0000269 PubMed:24992209, ECO:0000269 PubMed:27613864}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRCD gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 2
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for PRCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005576 extracellular region IDA 24992209
GO:0005737 cytoplasm IDA 24992209
GO:0005783 endoplasmic reticulum IEA,IDA 24992209
GO:0005794 Golgi apparatus IEA,IDA 24992209
genes like me logo Genes that share ontologies with PRCD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRCD Gene

Pathways & Interactions for PRCD Gene

PathCards logo

SuperPathways for PRCD Gene

No Data Available

Interacting Proteins for PRCD Gene

Gene Ontology (GO) - Biological Process for PRCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with PRCD: view

No data available for Pathways by source and SIGNOR curated interactions for PRCD Gene

Drugs & Compounds for PRCD Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for PRCD Gene

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mRNA/cDNA for PRCD Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRCD

Alternative Splicing Database (ASD) splice patterns (SP) for PRCD Gene

No ASD Table

Relevant External Links for PRCD Gene

GeneLoc Exon Structure for
PRCD

Expression for PRCD Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRCD Gene

mRNA expression in normal human tissues for PRCD Gene
mRNA expression by GTEx for PRCD Gene

mRNA differential expression in normal tissues according to GTEx for PRCD Gene

This gene is overexpressed in Brain - Cerebellum (x4.8) and Brain - Cerebellar Hemisphere (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRCD

SOURCE GeneReport for Unigene cluster for PRCD Gene:

Hs.634380

Evidence on tissue expression from TISSUES for PRCD Gene

  • Nervous system(4.4)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRCD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PRCD: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PRCD Gene

Orthologs for PRCD Gene

This gene was present in the common ancestor of mammals.

Orthologs for PRCD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PRCD 30 31
  • 99.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PRCD 31
  • 87 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PRCD 31
  • 80 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gm11744 31
  • 74 (a)
 OneToOne
Species where no ortholog for PRCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PRCD Gene

ENSEMBL:
Gene Tree for PRCD (if available)
TreeFam:
Gene Tree for PRCD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRCD: view image

Paralogs for PRCD Gene

No data available for Paralogs for PRCD Gene

Variants for PRCD Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRCD Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
813201 Pathogenic: Retinitis pigmentosa 76,540,214(+) C/A
NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr) 		MISSENSE
848892 Uncertain Significance: not provided 76,540,206(+) G/A
NM_001077620.3(PRCD):c.65G>A (p.Arg22Gln) 		MISSENSE
849356 Uncertain Significance: not provided 76,540,576(+) A/G
NM_001077620.3(PRCD):c.143+3A>G 		INTRON
866216 Pathogenic: Retinal dystrophy 76,540,199(+) GCCAA/G
NM_001077620.3(PRCD):c.61_64del (p.Asn21fs) 		FRAMESHIFT
888920 Uncertain Significance: Retinitis pigmentosa 76,544,337(+) G/A
NM_001077620.3(PRCD):c.*687G>A 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRCD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PRCD Gene

Variant ID Type Subtype PubMed ID
nsv1058263 CNV gain 25217958
nsv833549 CNV gain 17160897
nsv952370 CNV deletion 24416366

Variation tolerance for PRCD Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRCD Gene

Human Gene Mutation Database (HGMD)
PRCD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRCD

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRCD Gene

Disorders for PRCD Gene

MalaCards: The human disease database

(15) MalaCards diseases for PRCD Gene - From: OMI, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PRCD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRCD_HUMAN
  • Retinitis pigmentosa 36 (RP36) [MIM:610599]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:16938425, ECO:0000269 PubMed:24992209, ECO:0000269 PubMed:27613864}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PRCD

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PRCD: view

No data available for Genatlas for PRCD Gene

Publications for PRCD Gene

  1. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. (PMID: 16938425) Zangerl B … Aguirre GD (Genomics 2006) 2 3 4
  2. Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization. (PMID: 27613864) Murphy J … Kolandaivelu S (The Journal of biological chemistry 2016) 3 4
  3. The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway. (PMID: 24992209) Remez L … Ben-Yosef T (Experimental eye research 2014) 3 4
  4. The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex. (PMID: 30585266) Zhang W … Wang K (International journal of biological sciences 2018) 3
  5. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. (PMID: 23805042) Pach J … Zobor D (Molecular vision 2013) 3

ExternalLinks

View latest publications for PRCD gene in Mastermind

Products for PRCD Gene

Sources for PRCD Gene