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Aliases for PRCD Gene

Aliases for PRCD Gene

  • Progressive Rod-Cone Degeneration 2 3 5
  • Progressive Rod-Cone Degeneration Protein 3
  • 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 (Progressive Rod-Cone Degeneration) is a Protein Coding gene. Diseases associated with PRCD include Retinitis Pigmentosa 36 and Retinitis Pigmentosa.

UniProtKB/Swiss-Prot for PRCD Gene

  • Involved in vision.

No data available for 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
GH17F076564 1.1 Ensembl ENCODE 12.2 +40.0 40006 6.1 PKNOX1 MLX ARID4B FEZF1 DMAP1 YBX1 ZNF2 ZNF143 ZNF207 PAF1 ENSG00000267543 ST6GALNAC2 CDK3 SNHG16 PRCD UNK TEN1 ENSG00000267078 PIR42434
GH17F076577 0.8 Ensembl ENCODE 12 +53.0 53020 6.5 CTCF TAL1 ZFHX2 GATA3 NCOR1 SCRT2 NFE2 ZNF600 EGR2 ZNF687 ST6GALNAC2 PRCD CYGB RNU6-227P UBE2O AANAT ENSG00000267543 ENSG00000267078
GH17F076465 0.5 Ensembl ENCODE 11.9 -61.2 -61186 1.2 PKNOX1 CREB3L1 ARID4B DMAP1 ZSCAN9 RAD21 RARA SLC30A9 ZNF766 GLIS2 PRCD CYGB QRICH2 GC17M076452 GC17P076469
GH17F076458 0.2 ENCODE 11.8 -68.8 -68813 0.2 ATF1 ARID4B RAD21 ZNF48 YY1 ZNF335 GATA2 EGR2 KLF11 ZNF654 PRCD SPHK1 GC17M076452 UBE2O
GH17F076460 0.7 ENCODE 11.8 -66.8 -66843 0.1 CTCF ZNF654 ZFP64 ZBTB8A REST RAD21 PPARGC1A HSF1 ZNF143 ZNF580 MFSD11 PRCD CYGB ENSG00000266980 METTL23 GC17M076452 UBE2O
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PRCD on UCSC Golden Path with GeneCards custom track

Promoters for PRCD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001810060 614 401 HDGF RNF2 ZNF511 ARID4B EBF1 DNMT3B KAT8 JUND ZGPAT IKZF1

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

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 Gene Families and UniProtKB/Swiss-Prot for PRCD Gene

Function for PRCD Gene

Molecular function for PRCD Gene

UniProtKB/Swiss-Prot Function:
Involved in vision.

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Membrane; Single-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRCD Gene COMPARTMENTS Subcellular localization image for PRCD gene
Compartment Confidence
extracellular 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for PRCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PRCD: view

Pathways & Interactions for PRCD Gene

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
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 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia PRCD 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRCD 35
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11744 35
  • 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 Retinitis pigmentosa 36 (RP36) [MIM:610599], Pathogenic 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
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
rs1047541 -- 76,553,394(-) aggct(C/T)cgttc intron-variant, utr-variant-3-prime

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

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 36
  • rp36
retinitis pigmentosa
  • retinitis pigmentosa 1
chylomicron retention disease
  • retinitis pigmentosa
refsum disease
  • heredopathia atactica polyneuritiformis
rhyns syndrome
  • retinitis pigmentosa syndrome
- 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}. 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 G.D. (Genomics 2006) 2 3 4 64
  2. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. (PMID: 23805042) Pach J. … Zobor D. (Mol. Vis. 2013) 3 64
  3. 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 M.J. … Ben-Yosef T. (J. Med. Genet. 2010) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for PRCD Gene

Sources for PRCD Gene

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