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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2orf71 Gene

protein-coding   GIFtS: 41
GCID: GC02M029284

chromosome 2 open reading frame 71
 Explore 7 diseases affiliated with
C2orf71 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C2orf71    

Aliases
for C2orf71 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 2 Open Reading Frame 711 2
FLJ349311
Uncharacterized Protein C2orf712

External Ids:    HGNC: 343831   Entrez Gene: 3889392   Ensembl: ENSG000001792707   OMIM: 6134255   UniProtKB: A6NGG83   
ORGUL members:         
NONCODE:n338735    

Export aliases for C2orf71 gene to outside databases

Previous GC identifers: GC02M029139 GC02M029140 GC02M029025


Summaries
for C2orf71 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for C2orf71:
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)

UniProtKB/Swiss-Prot: CB071_HUMAN, A6NGG8
Function: May play an important role in the development of normal vision




Genomic Views
for C2orf71 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf71 gene promoter:
         Bach1   AhR   GR   AML1a   GR-beta   AP-2gamma   C/EBPalpha   Arnt   CHOP-10   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf71

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf71


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.2   Ensembl cytogenetic band:  2p23.2   HGNC cytogenetic band: 2p23.2

C2orf71 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf71 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M029284:  view genomic region     (about GC identifiers)

Start:
 29,284,556 bp from pter      End:
 29,297,127 bp from pter
Size:
 12,572 bases      Orientation:
 minus strand

Proteins
for C2orf71 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CB071_HUMAN, A6NGG8 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf71  
Size: 1288 amino acids; 139655 Da
Subcellular location: Cell projection, cilium, photoreceptor outer segment

Explore the universe of human proteins at neXtProt for C2orf71: NX_A6NGG8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NGG8

    • C2orf71 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001025054.1  
    ENSEMBL proteins: 
     ENSP00000332809  

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    Uscn Proteins for C2orf71

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--


    C2orf71 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for C2orf71 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: A6NGG8


    Function
    for C2orf71 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CB071_HUMAN, A6NGG8
    Function: May play an important role in the development of normal vision

    miRNA
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    In Situ Assay
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    Pathways & Interactions
    for C2orf71 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf71

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0050896response to stimulus IEA--


    C2orf71 for ontologies           About GeneDecksing



    Drugs & Compounds
    for C2orf71 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C2orf71
    Search CenterWatch for drugs/clinical trials and news about C2orf71 / CB071 

    Transcripts
    for C2orf71 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C2orf71 gene: 
    NM_001029883.2  

    Unigene Cluster for C2orf71:

    Chromosome 2 open reading frame 71
    Hs.354243  [show with all ESTs]
    Unigene Representative Sequence: NM_001029883
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000331664(uc002rmt.2)

    miRNA
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    hsa-miR-217 hsa-miR-3655 hsa-miR-631 hsa-miR-509-5p hsa-miR-4263 hsa-miR-134 hsa-miR-578 hsa-miR-3661
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C2orf71 (see all 4)
    OriGene shRNA RFP: C2orf71
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2orf71
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf71

    Additional cDNA sequence: AK092250.1 

    2 DOTS entries:

    DT.75154121  DT.97800417 

    24/26 AceView cDNA sequences (see all 26):

    BM701367 BM675245 BU740486 BM698795 BM717131 BM683942 CN478537 BM714060 
    BU738609 CD245267 BG394633 BM718811 BM721416 BM680702 BM719306 BM669582 
    BQ636237 AK092250 BM726732 BM683239 AX747432 BM931809 BM685732 BQ185778 

    GeneLoc Exon Structure


    Expression
    for C2orf71 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C2orf71 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAATTAGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C2orf71 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C2orf71 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf71

    SOURCE GeneReport for Unigene cluster: Hs.354243

    UniProtKB/Swiss-Prot: CB071_HUMAN, A6NGG8
    Tissue specificity: Specifically expressed in retina

        SABiosciences Custom PCR Arrays for C2orf71
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    In Situ
    Assay Products:     
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    Orthologs
    for C2orf71 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for C2orf71 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia BC0270721 , 5 cDNA sequence BC0270721, 5 73.11(n)1
    60.63(a)1    		   17 (42.67 cM)5
    2250041  NM_146082.31  NP_666194.21 
     717435575 
    chicken
    (Gallus gallus)    		 Aves C2orf716
    		 Uncharacterized protein
    		 35(a)
    		 1 ↔ 1
    		 3(8445165-8453229)
    lizard
    (Anolis carolinensis)    		 Reptilia C2orf716
    		 --
    		 36(a)
    		 1 ↔ 1
    		 1(248522056-248525739)
    zebrafish
    (Danio rerio)    		 Actinopterygii CU929269.16
    		 --
    		 31(a)
    		 1 ↔ 1
    		 17(47971671-47975998)


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

    Paralogs
    for C2orf71 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for C2orf71 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/394 NCBI SNPs in C2orf71 are shown (see all 394)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1995807201,2
    		C,other29036875(+) TGCTTC/TGTCCT 2 K E mis10--------
    rs116841091,2
    		C,H,--29025128(+) TACGAT/CGTGAG 1 -- ds50014Minor allele frequency- C:0.00NS EA 420
    rs1160608711,2
    		C,F,--29025149(+) AGATAC/TGGCTT 1 -- ds50011Minor allele frequency- T:0.02NA 120
    rs728610141,2
    		C,--29025700(+) TACCAC/TTCTTG 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs170075221,2
    		C,F,H,--29025722(+) GATGGT/CGGGCG 1 -- ut31 ese311Minor allele frequency- C:0.06NA NS EA WA 1330
    rs749929081,2
    		--29026114(+) CAATGG/ATGTCA 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs1165296281,2
    		C,F,--29026134(+) TGTCCC/TGGCTG 1 -- ut311Minor allele frequency- T:0.06WA 118
    rs799613091,2
    		F,--29026179(+) ATCGTG/ATGTGG 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs176928991,2
    		C,F,H,--29026282(+) ATCTCC/TACAGC 1 -- ut31 ese324Minor allele frequency- T:0.09NA NS EA 2472
    rs1139500921,2
    		--29026428(+) CTCACG/AGAAAG 1 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for C2orf71 (29284556 - 29297127 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for C2orf71
         2 CNVs: 2374 8366
    Human Gene Mutation Database (HGMD): C2orf71

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    DNA2.0 Custom Variant and Variant Library Synthesis for C2orf71

    Disorders / Diseases
    for C2orf71 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    C2orf71 for disorders           About GeneDecksing

    OMIM gene information: 613425   
    OMIM disorders: 613428  
    UniProtKB/Swiss-Prot: CB071_HUMAN, A6NGG8
  • Defects in C2orf71 are the cause of retinitis pigmentosa type 54 (RP54) [MIM:613428]. A retinal dystrophy
    • belonging to the group of pigmentary retinopathies. RP 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

    7 diseases for C2orf71:    About MalaCards
    retinitis pigmentosa    retinitis pigmentosa 54    retinitis    major depressive disorder
    pigmentary retinopathy    retinal degeneration    blindness

    1 disease from the University of Copenhagen DISEASES database for C2orf71:
    Retinitis pigmentosa
    Human Genome Epidemiology (HuGE) Navigator: C2orf71 (1 document)

    Export disorders for C2orf71 gene to outside databases

    Publications
    for C2orf71 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C2orf71 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2orf71)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71. (PubMed id 20398886)1, 2, 3 Nishimura D.Y....Sheffield V.C. (2010)
    2. Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort. (PubMed id 21412943)1, 2 Audo I.... Zeitz C. (2011)
    3. Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa. (PubMed id 20398884)1, 2 Collin R.W.J.... Ben-Yosef T. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. (PubMed id 20811058)1 Sergouniotis P.I....Webster A.R. (2010)
    6. Genome-wide association study of recurrent early-onse t major depressive disorder. (PubMed id 20125088)1 Shi J....Levinson D.F. (2010)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
    9. Retinitis Pigmentosa Overvi ew (PubMed id 20301590)1 Pagon R.A. and Daiger S.P. (1993)

    External Searches for C2orf71 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing C2orf71 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 388939 HGNC: 34383 AceView: LOC388939 Ensembl:ENSG00000179270 euGenes: HUgn388939
    ECgene: C2orf71 H-InvDB: C2orf71

    Other Databases showing C2orf71 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C2orf71 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C2orf71 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C2orf71 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C2orf71 gene:
    Search GeneIP for patents involving C2orf71

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for C2orf71 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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     Browse OriGene Antibodies   OriGene shRNA RFP for C2orf71  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C2orf71   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C2orf71  
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     OriGene Custom Antibody Services for C2orf71   OriGene Custom Protein Services for C2orf71  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C2orf71
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     GenScript Custom Purified and Recombinant Proteins Services for C2orf71 GenScript cDNA clones with any tag delivered in your preferred vector for C2orf71
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     Regulatory tfbs in C2orf71 promoter
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     Browse Sino Biological Proteins and Antibodies
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Biologicals
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     Search for Antibodies for C2orf71 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for C2orf71
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     C2orf71 Proteins, Antibodies, CLIAs, and ELISAs
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf71
     Browse SwitchGear 3'UTR luciferase reporter plasmids for C2orf71
     Browse SwitchGear Promoter luciferase reporter plasmids for C2orf71
     Search ThermoFisher Antibodies for C2orf71
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C2orf71
           
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