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Aliases for PCARE Gene

Aliases for PCARE Gene

  • Photoreceptor Cilium Actin Regulator 2 3
  • Chromosome 2 Open Reading Frame 71 2 5
  • C2orf71 3 5
  • Uncharacterized Protein C2orf71 3
  • RP54 3

External Ids for PCARE Gene

Previous HGNC Symbols for PCARE Gene

  • C2orf71

Summaries for PCARE Gene

Entrez Gene Summary for PCARE Gene

  • The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

GeneCards Summary for PCARE Gene

PCARE (Photoreceptor Cilium Actin Regulator) is a Protein Coding gene. Diseases associated with PCARE include Retinitis Pigmentosa 54 and Retinitis Pigmentosa.

UniProtKB/Swiss-Prot for PCARE Gene

  • May play an important role in the development of normal vision.

Additional gene information for PCARE Gene

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

Genomics for PCARE Gene

GeneHancer (GH) Regulatory Elements for PCARE Gene

Promoters and enhancers for PCARE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J029076 Enhancer 0.3 FANTOM5 650.7 -1.6 -1599 0.1 PCARE CLIP4 LOC105374386 TOGARAM2
GH02J029112 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6 -42.1 -42094 9.2 PKNOX1 SIN3A YY1 GLIS2 ZNF207 FOS RUNX3 SP3 JUNB REST CLIP4 TOGARAM2 PCARE GC02P029290
GH02J029063 Enhancer 0.9 Ensembl ENCODE dbSUPER 12.8 +9.4 9367 4.5 ATF4 HLF CEBPA CEBPB CEBPG LOC105374386 PCARE CLIP4 TOGARAM2 ENSG00000200283
GH02J029126 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -54.1 -54099 4.5 FOXA2 TAF9B SIN3A BATF IRF4 RFX5 YY1 FOS RUNX3 RXRA CLIP4 LOC105374386 PCARE GC02P029290
GH02J028593 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.2 +479.3 479279 3.8 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 ETS1 YY1 ZNF766 ZNF143 ATF7 ENSG00000230730 PPP1CB SPDYA LOC100505774 PLB1 PCARE SNRPGP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCARE on UCSC Golden Path with GeneCards custom track

Genomic Locations for PCARE Gene

Genomic Locations for PCARE Gene
chr2:29,060,976-29,074,838
(GRCh38/hg38)
Size:
13,863 bases
Orientation:
Minus strand
chr2:29,283,842-29,297,127
(GRCh37/hg19)
Size:
13,286 bases
Orientation:
Minus strand

Genomic View for PCARE Gene

Genes around PCARE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PCARE Gene

Proteins for PCARE Gene

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

    Protein Symbol:
    A6NGG8-CB071_HUMAN
    Recommended name:
    Uncharacterized protein C2orf71
    Protein Accession:
    A6NGG8

    Protein attributes for PCARE Gene

    Size:
    1288 amino acids
    Molecular mass:
    139655 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PCARE Gene

Post-translational modifications for PCARE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCARE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCARE Gene

Domains & Families for PCARE Gene

Gene Families for PCARE Gene

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

Protein Domains for PCARE Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for PCARE Gene

Function for PCARE Gene

Molecular function for PCARE Gene

UniProtKB/Swiss-Prot Function:
May play an important role in the development of normal vision.

Phenotypes From GWAS Catalog for PCARE Gene

genes like me logo Genes that share phenotypes with PCARE: view

Human Phenotype Ontology for PCARE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCARE Gene

MGI Knock Outs for PCARE:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PCARE Gene

Localization for PCARE Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCARE Gene

Cell projection, cilium, photoreceptor outer segment.

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 PCARE gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for PCARE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005929 cilium IDA 20398886
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with PCARE: view

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

Pathways & Interactions for PCARE Gene

SuperPathways for PCARE Gene

No Data Available

Interacting Proteins for PCARE Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000332809%0d%0a9606.ENSP00000245932%0d%0a9606.ENSP00000239878%0d%0a9606.ENSP00000228825%0d%0a9606.ENSP00000370377%0d%0a
Selected Interacting proteins: ENSP00000332809 for PCARE Gene via STRING

Gene Ontology (GO) - Biological Process for PCARE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0035845 photoreceptor cell outer segment organization IEA --
GO:0050896 response to stimulus IEA --
GO:1903546 protein localization to photoreceptor outer segment IEA --
genes like me logo Genes that share ontologies with PCARE: view

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

Drugs & Compounds for PCARE Gene

No Compound Related Data Available

Transcripts for PCARE Gene

mRNA/cDNA for PCARE Gene

(1) REFSEQ mRNAs :
(26) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

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

No ASD Table

Relevant External Links for PCARE Gene

GeneLoc Exon Structure for
PCARE
ECgene alternative splicing isoforms for
PCARE

Expression for PCARE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of PCARE Gene:

PCARE

mRNA Expression by UniProt/SwissProt for PCARE Gene:

A6NGG8-CB071_HUMAN
Tissue specificity: Specifically expressed in retina.

Evidence on tissue expression from TISSUES for PCARE Gene

  • Eye(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCARE 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 PCARE: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PCARE Gene

Orthologs for PCARE Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCARE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf71 33
  • 99.09 (n)
C2orf71 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H2orf71 33
  • 77.88 (n)
C2orf71 34
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C17H2orf71 33
  • 76.35 (n)
C17H2ORF71 34
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1304963 33
  • 72.76 (n)
mouse
(Mus musculus)
Mammalia BC027072 34 33
  • 72.57 (n)
OneToOne
Pcare 16
oppossum
(Monodelphis domestica)
Mammalia C2orf71 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf71 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H2orf71 33
  • 52.44 (n)
C2orf71 34
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf71 34
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732635 33
  • 46.82 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537793 33
  • 44.58 (n)
C20H2orf71 34
  • 24 (a)
OneToOne
Species where no ortholog for PCARE 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCARE Gene

ENSEMBL:
Gene Tree for PCARE (if available)
TreeFam:
Gene Tree for PCARE (if available)

Paralogs for PCARE Gene

No data available for Paralogs for PCARE Gene

Variants for PCARE Gene

Sequence variations from dbSNP and Humsavar for PCARE Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10084168 likely-benign, Retinitis Pigmentosa, Recessive 29,074,225(-) T/A coding_sequence_variant, missense_variant
rs10166913 likely-benign, benign, Retinitis Pigmentosa, Recessive, not specified 29,072,523(-) G/A/T coding_sequence_variant, missense_variant
rs10182566 likely-benign, Retinitis Pigmentosa, Recessive 29,064,842(-) C/A/T 3_prime_UTR_variant
rs10185075 benign, Retinitis Pigmentosa, Recessive 29,062,199(-) A/G 3_prime_UTR_variant
rs10187620 likely-benign, Retinitis Pigmentosa, Recessive 29,062,115(-) T/C 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2759035 CNV gain 17122850
esv34904 CNV gain 17911159
nsv1008490 CNV gain 25217958
nsv2657 CNV deletion 18451855

Variation tolerance for PCARE Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.13; 98.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCARE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCARE

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

Disorders for PCARE Gene

MalaCards: The human disease database

(3) MalaCards diseases for PCARE Gene - From: OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 54
  • rp54
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search PCARE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CB071_HUMAN
  • Retinitis pigmentosa 54 (RP54) [MIM:613428]: 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:20398884, ECO:0000269 PubMed:20398886, ECO:0000269 PubMed:21412943}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PCARE

genes like me logo Genes that share disorders with PCARE: view

No data available for Genatlas for PCARE Gene

Publications for PCARE Gene

  1. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. (PMID: 20398886) Nishimura DY … Sheffield VC (American journal of human genetics 2010) 2 3 4 58
  2. Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. (PMID: 21412943) Audo I … Zeitz C (Human mutation 2011) 3 4 58
  3. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. (PMID: 20398884) Collin RW … Ben-Yosef T (American journal of human genetics 2010) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. (PMID: 27029556) Liu YP … Cremers FP (Ophthalmic genetics 2017) 3 58

Products for PCARE Gene

Sources for PCARE Gene

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