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Aliases for C2orf71 Gene

Aliases for C2orf71 Gene

  • Chromosome 2 Open Reading Frame 71 2 3 5
  • Uncharacterized Protein C2orf71 3
  • RP54 3

External Ids for C2orf71 Gene

Previous GeneCards Identifiers for C2orf71 Gene

  • GC02M029139
  • GC02M029140
  • GC02M029284

Summaries for C2orf71 Gene

Entrez Gene Summary for C2orf71 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 C2orf71 Gene

C2orf71 (Chromosome 2 Open Reading Frame 71) is a Protein Coding gene. Diseases associated with C2orf71 include Retinitis Pigmentosa 54 and Retinitis Pigmentosa.

UniProtKB/Swiss-Prot for C2orf71 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2orf71 Gene

Genomics for C2orf71 Gene

Regulatory Elements for C2orf71 Gene

Enhancers for C2orf71 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
GH02F029063 0.8 Ensembl ENCODE 12.8 +9.5 9484 4.7 ATF3 SMARCA4 HLF CEBPA CEBPB CEBPG REST LOC105374386 C2orf71 CLIP4 FAM179A PPP1CB LOC105374385
GH02F029032 1 Ensembl ENCODE 6.4 +41.1 41053 1.6 TEAD4 CEBPB EP300 GATA3 SMC3 KDM1A RCOR1 MYC TCF7L2 DEK FAM179A C2orf71 LOC105374385 ENSG00000200283
GH02F029112 0.9 ENCODE 6 -42.1 -42094 9.2 PKNOX1 SIN3A GLIS2 FOS ZNF263 SP3 JUNB SREBF1 MAFF SMARCA4 FAM179A C2orf71 CLIP4 GC02P029290
GH02F029122 1.1 Ensembl ENCODE 5.8 -49.2 -49218 3.6 ELF3 ZFP64 THRB RARA CBX5 FOS CEBPB USF2 ZNF623 ZNF781 LOC105374386 CLIP4 C2orf71 GC02P029290
GH02F029165 0.2 ENCODE 5.8 -91.0 -90962 1.1 ELF3 TBP DNMT3B ZEB1 RARA GTF3C2 POLR3A ZNF366 FOS THAP11 WDR43 CLIP4 LOC105374386 FAM179A C2orf71 GC02P029290
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C2orf71 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2orf71 Gene

29,060,976 bp from pter
29,074,838 bp from pter
13,863 bases
Minus strand

Genomic View for C2orf71 Gene

Genes around C2orf71 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf71 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf71 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf71 Gene

Proteins for C2orf71 Gene

  • Protein details for C2orf71 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C2orf71
    Protein Accession:

    Protein attributes for C2orf71 Gene

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

neXtProt entry for C2orf71 Gene

Post-translational modifications for C2orf71 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf71 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2orf71 Gene

Domains & Families for C2orf71 Gene

Protein Domains for C2orf71 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf71: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf71 Gene

Function for C2orf71 Gene

Molecular function for C2orf71 Gene

UniProtKB/Swiss-Prot Function:
May play an important role in the development of normal vision.
genes like me logo Genes that share phenotypes with C2orf71: view

Human Phenotype Ontology for C2orf71 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C2orf71 Gene

MGI Knock Outs for C2orf71:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for C2orf71 Gene

Localization for C2orf71 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2orf71 Gene

Cell projection, cilium, photoreceptor outer segment.

Subcellular locations from

Jensen Localization Image for C2orf71 Gene COMPARTMENTS Subcellular localization image for C2orf71 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for C2orf71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005929 cilium IEA,IDA 20398886
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with C2orf71: view

Pathways & Interactions for C2orf71 Gene

SuperPathways for C2orf71 Gene

No Data Available

Interacting Proteins for C2orf71 Gene

Gene Ontology (GO) - Biological Process for C2orf71 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 C2orf71: view

No data available for Pathways by source and SIGNOR curated interactions for C2orf71 Gene

Transcripts for C2orf71 Gene

mRNA/cDNA for C2orf71 Gene

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

Unigene Clusters for C2orf71 Gene

Chromosome 2 open reading frame 71:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf71 Gene

No ASD Table

Relevant External Links for C2orf71 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C2orf71 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C2orf71 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2orf71 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.6) and Heart - Atrial Appendage (x4.7).

Protein differential expression in normal tissues from HIPED for C2orf71 Gene

This gene is overexpressed in Saliva (35.7) and Thyroid (31.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C2orf71 Gene

NURSA nuclear receptor signaling pathways regulating expression of C2orf71 Gene:


SOURCE GeneReport for Unigene cluster for C2orf71 Gene:


mRNA Expression by UniProt/SwissProt for C2orf71 Gene:

Tissue specificity: Specifically expressed in retina.
genes like me logo Genes that share expression patterns with C2orf71: view

Primer Products

No data available for Protein tissue co-expression partners for C2orf71 Gene

Orthologs for C2orf71 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf71 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C2AH2orf71 34
  • 99.09 (n)
C2orf71 35
  • 98 (a)
(Bos Taurus)
Mammalia C11H2orf71 34
  • 77.88 (n)
C2orf71 35
  • 64 (a)
(Canis familiaris)
Mammalia C17H2orf71 34
  • 76.35 (n)
C17H2ORF71 35
  • 64 (a)
(Rattus norvegicus)
Mammalia RGD1304963 34
  • 72.76 (n)
(Mus musculus)
Mammalia BC027072 34 16 35
  • 72.57 (n)
(Monodelphis domestica)
Mammalia C2orf71 35
  • 43 (a)
(Ornithorhynchus anatinus)
Mammalia C2orf71 35
  • 42 (a)
(Gallus gallus)
Aves C3H2orf71 34
  • 52.44 (n)
C2orf71 35
  • 35 (a)
(Anolis carolinensis)
Reptilia C2orf71 35
  • 35 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732635 34
  • 46.82 (n)
(Danio rerio)
Actinopterygii LOC100537793 34
  • 44.58 (n)
C20H2orf71 35
  • 24 (a)
Species where no ortholog for C2orf71 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 C2orf71 Gene

Gene Tree for C2orf71 (if available)
Gene Tree for C2orf71 (if available)

Paralogs for C2orf71 Gene

No data available for Paralogs for C2orf71 Gene

Variants for C2orf71 Gene

Sequence variations from dbSNP and Humsavar for C2orf71 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs140776870 Retinitis pigmentosa 54 (RP54) [MIM:613428] 29,072,418(+) TCTGG(A/T)CCCTT reference, missense
rs200758183 Retinitis pigmentosa 54 (RP54) [MIM:613428] 29,072,427(+) TTCGC(A/G)GCTCC reference, missense
rs201284350 Retinitis pigmentosa 54 (RP54) [MIM:613428] 29,073,148(+) AAGGT(C/T)CCAGC reference, missense
rs267606690 Retinitis pigmentosa 54 (RP54) [MIM:613428], Pathogenic 29,073,661(-) AAGCA(A/T)TTCTG reference, missense
rs267606691 Pathogenic 29,073,706(-) ACCAG(A/C/G/T)AGGCT reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for C2orf71 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 C2orf71 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)

Relevant External Links for C2orf71 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf71 Gene

Disorders for C2orf71 Gene

MalaCards: The human disease database

(10) MalaCards diseases for C2orf71 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 54
  • rp54
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy
  • cone-rod retinal dystrophy-2
cortisone reductase deficiency 1
  • retinitis pigmentosa
retinal degeneration, late-onset, autosomal dominant
  • late-onset retinal degeneration
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for C2orf71

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C2orf71: view

No data available for Genatlas for C2orf71 Gene

Publications for C2orf71 Gene

  1. Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71. (PMID: 20398886) Nishimura D.Y. … Sheffield V.C. (Am. J. Hum. Genet. 2010) 2 3 4 64
  2. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J. … Levinson D.F. (Mol. Psychiatry 2011) 3 46 64
  3. Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort. (PMID: 21412943) Audo I. … Zeitz C. (Hum. Mutat. 2011) 3 4 64
  4. Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa. (PMID: 20398884) Collin R.W.J. … Ben-Yosef T. (Am. J. Hum. Genet. 2010) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for C2orf71 Gene

Sources for C2orf71 Gene

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