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Aliases for C2orf71 Gene

Aliases for C2orf71 Gene

  • Chromosome 2 Open Reading Frame 71 2 3 5
  • 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C2orf71 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2orf71 Gene

Chromosome:
2
Start:
29,060,976 bp from pter
End:
29,074,838 bp from pter
Size:
13,863 bases
Orientation:
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:
    A6NGG8-CB071_HUMAN
    Recommended name:
    Uncharacterized protein C2orf71
    Protein Accession:
    A6NGG8

    Protein attributes for C2orf71 Gene

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

neXtProt entry for C2orf71 Gene

Proteomics data for C2orf71 Gene at MOPED

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

InterPro:
ProtoNet:

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

CRISPR 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

COMPARTMENTS
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 --
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 --
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

Drugs & Compounds for C2orf71 Gene

No Compound Related Data Available

Transcripts for C2orf71 Gene

mRNA/cDNA for C2orf71 Gene

(2) 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:

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

No ASD Table

Relevant External Links for C2orf71 Gene

GeneLoc Exon Structure for
C2orf71
ECgene alternative splicing isoforms for
C2orf71

Expression for C2orf71 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for C2orf71 Gene Hs.354243

mRNA Expression by UniProt/SwissProt for C2orf71 Gene

A6NGG8-CB071_HUMAN
Tissue specificity: Specifically expressed in retina.
genes like me logo Genes that share expression patterns with C2orf71: view

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia C11H2orf71 35
  • 77.88 (n)
  • 66.59 (a)
C2orf71 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C17H2orf71 35
  • 76.35 (n)
  • 66.56 (a)
C17H2ORF71 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC027072 35
  • 72.57 (n)
  • 60.14 (a)
BC027072 16
BC027072 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf71 35
  • 99.09 (n)
  • 98.37 (a)
C2orf71 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1304963 35
  • 72.76 (n)
  • 59.98 (a)
oppossum
(Monodelphis domestica)
Mammalia C2orf71 36
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf71 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H2orf71 35
  • 52.44 (n)
  • 40.37 (a)
C2orf71 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf71 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732635 35
  • 46.82 (n)
  • 36.81 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100537793 35
  • 44.58 (n)
  • 36.34 (a)
C20H2orf71 36
  • 24 (a)
OneToOne
Species with no ortholog for C2orf71:
  • 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

ENSEMBL:
Gene Tree for C2orf71 (if available)
TreeFam:
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
VAR_042646 -
VAR_042647 -
VAR_042648 -
VAR_042649 -
VAR_042650 -

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

Variant ID Type Subtype PubMed ID
dgv1163e1 CNV Complex 17122850
esv34904 CNV Gain 17911159
nsv2657 CNV Loss 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

HapMap Linkage Disequilibrium report
C2orf71
Human Gene Mutation Database (HGMD)
C2orf71

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

Disorders for C2orf71 Gene

MalaCards: The human disease database

(3) 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
c2orf71-related retinitis pigmentosa
  • retinitis pigmentosa 54
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for C2orf71

Genetic Association Database (GAD)
C2orf71
Human Genome Epidemiology (HuGE) Navigator
C2orf71
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf71
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 67
  2. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. (PMID: 24780881) Khateb S. … Sharon D. (J. Med. Genet. 2014) 3
  3. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J. … Levinson D.F. (Mol. Psychiatry 2011) 3
  4. A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. (PMID: 20811058) Sergouniotis P.I. … Webster A.R. (Invest. Ophthalmol. Vis. Sci. 2011) 3
  5. 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

Products for C2orf71 Gene

Sources for C2orf71 Gene

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