Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PRCD Gene

Aliases for PRCD Gene

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

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 Prcd-Related Retinitis Pigmentosa.

UniProtKB/Swiss-Prot for PRCD Gene

  • Involved in vision.

Additional gene information for PRCD Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRCD Gene

Genomics for PRCD Gene

Regulatory Elements for PRCD Gene

Enhancers for PRCD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H076694 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +171.4 171430 8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 SLC30A9 UNK MXRA7 SRSF2 ENSG00000266980 METTL23 MFSD11 ENSG00000267546 SRP68 ENSG00000267342 RNU6-227P
GH17H076258 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -259.6 -259611 19 DMAP1 YY1 ZNF143 SP3 ZC3H11A NFYC MEF2D ZNF610 ZNF585B GLIS1 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000266980 ENSG00000267546 EXOC7 RNF157 MFSD11 PRPSAP1
GH17H077362 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +837.3 837345 5 HDGF PKNOX1 ARNT ZFP64 ARID4B ZNF2 ZNF766 FOS ZHX2 REST SNHG16 ENSG00000200651 SEPT9 PRCD ENSG00000267078 SPHK1 ST6GALNAC2 ENSG00000266998 LOC105371907
GH17H076505 1.5 Ensembl ENCODE dbSUPER 11.7 -21.1 -21146 1 HDGF ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 GLIS2 ZNF143 ATF7 SNHG16 SNORD1B AANAT UBE2O PRCD CYGB SPHK1 PRPSAP1 FBF1 RHBDF2
GH17H076542 1.6 Ensembl ENCODE dbSUPER 10.7 +17.5 17480 5 HDGF PKNOX1 FOXA2 ARNT ARID4B YBX1 ZNF2 ZNF207 ZNF143 FOS UNK SRSF2 ENSG00000267342 ENSG00000267543 ENSG00000266980 METTL23 SEPT9 TRIM65 SNHG16 PRPSAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRCD on UCSC Golden Path with GeneCards custom track

Genomic Location for PRCD Gene

Chromosome:
17
Start:
76,527,586 bp from pter
End:
76,553,580 bp from pter
Size:
25,995 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 StructureGene Density

RefSeq DNA sequence for PRCD Gene

Proteins for PRCD Gene

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

    Protein Symbol:
    Q00LT1-PRCD_HUMAN
    Recommended name:
    Progressive rod-cone degeneration protein
    Protein Accession:
    Q00LT1
    Secondary Accessions:
    • B9EJD4

    Protein attributes for PRCD Gene

    Size:
    54 amino acids
    Molecular mass:
    6007 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRCD Gene

Post-translational modifications for PRCD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRCD Gene

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 secreted proteins

Protein Domains for PRCD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRCD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRCD: view

No data available for UniProtKB/Swiss-Prot for PRCD Gene

Function for PRCD Gene

Molecular function for PRCD Gene

UniProtKB/Swiss-Prot Function:
Involved in vision.

Phenotypes From GWAS Catalog for PRCD Gene

Phenotypes for PRCD Gene

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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PRCD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Cytoplasm. Endoplasmic reticulum. Golgi apparatus. Secreted.

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
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 2
nucleus 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,IEA 24992209
GO:0005737 cytoplasm IDA,IEA 24992209
GO:0005783 endoplasmic reticulum IEA,IDA 24992209
GO:0005794 Golgi apparatus IDA,IEA 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

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

No Compound Related Data Available

Transcripts for PRCD Gene

mRNA/cDNA for PRCD Gene

(4) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRCD Gene

Progressive rod-cone degeneration:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PRCD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for PRCD Gene

GeneLoc Exon Structure for
PRCD
ECgene alternative splicing isoforms for
PRCD

Expression for PRCD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of PRCD Gene:

PRCD

SOURCE GeneReport for Unigene cluster for PRCD Gene:

Hs.634380

Evidence on tissue expression from TISSUES for PRCD Gene

  • Nervous system(4.2)
  • Eye(2.6)

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
Organs:
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

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 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia PRCD 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRCD 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11744 34
  • 74 (a)
OneToOne
Species where no ortholog for PRCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for PRCD Gene

No data available for Paralogs for PRCD Gene

Variants for PRCD Gene

Sequence variations from dbSNP and Humsavar for PRCD Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121918369 Pathogenic, Retinitis pigmentosa 36 (RP36) [MIM:610599] 76,540,146(+) CATGT(A/G)CACCA intron-variant, reference, missense
rs767439982 Retinitis pigmentosa 36 (RP36) [MIM:610599] 76,540,518(+) GCGAC(A/G)TGGAT intron-variant, nc-transcript-variant, reference, missense
VAR_078540 Retinitis pigmentosa 36 (RP36) [MIM:610599]
rs387907268 Pathogenic 76,540,205(+) CCAAC(C/T)GAGTC intron-variant, reference, stop-gained
rs527236092 Pathogenic 76,540,143(+) CGCCA(C/T)GTGCA intron-variant, reference, missense

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)

Relevant External Links for PRCD Gene

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

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

Disorders for PRCD Gene

MalaCards: The human disease database

(5) MalaCards diseases for PRCD Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 36
  • rp36
prcd-related retinitis pigmentosa
  • retinitis pigmentosa 36
rhyns syndrome
  • retinitis pigmentosa syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 17
  • rp17
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRCD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRCD
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 60
  2. 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 60
  3. 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 60
  4. Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. (PMID: 20507925) Nevet MJ … Ben-Yosef T (Journal of medical genetics 2010) 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 60

Products for PRCD Gene

Sources for PRCD Gene

Content
Loading form....