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

C8orf37 Gene

protein-coding   GIFtS: 44
GCID: GC08M096257

Chromosome 8 Open Reading Frame 37

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 8 Open Reading Frame 371 2
CORD162
RP642
Protein C8orf372
smalltalk2

External Ids:    HGNC: 272321   Entrez Gene: 1576572   Ensembl: ENSG000001561727   OMIM: 6144775   UniProtKB: Q96NL83   

Export aliases for C8orf37 gene to outside databases

Previous GC identifers: GC08M096327 GC08M091465


(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 C8orf37 Gene:
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in
the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the
primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with
autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). (provided by RefSeq, Mar 2012)

GeneCards Summary for C8orf37 Gene: 
C8orf37 (chromosome 8 open reading frame 37) is a protein-coding gene. Diseases associated with C8orf37 include c8orf37-related retinitis pigmentosa, and cone-rod dystrophy 16.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C8orf37 gene promoter:
         C/EBPbeta   GCNF   CUTL1   HNF-3beta   E2F-1   E2F   FOXC1   GCNF-1   Zic1   GCNF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C8orf37

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf37


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

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

C8orf37 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf37 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M096257:  view genomic region     (about GC identifiers)

Start:
96,257,141 bp from pter      End:
96,281,462 bp from pter
Size:
24,322 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CH037_HUMAN, Q96NL8 (See protein sequence)
Recommended Name: Protein C8orf37  
Size: 207 amino acids; 23381 Da
Subcellular location: Cytoplasm. Note=In the retina, located at the base of the primary cilium

Explore the universe of human proteins at neXtProt for C8orf37: NX_Q96NL8

Explore proteomics data for C8orf37 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NL8

  • C8orf37 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C8orf37 Protein Expression
    REFSEQ proteins: NP_808880.1  
    ENSEMBL proteins: 
     ENSP00000286688  

    Human Recombinant Protein Products for C8orf37: 
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    Cloud-Clone Corp. Proteins for C8orf37 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    C8orf37 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q96NL8


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for C8orf37:
     Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C8orf37 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C8orf37 
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    SwitchGear 3'UTR luciferase reporter plasmidC8orf37 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C8orf37

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C8orf37 (CH037)

    Search CenterWatch for drugs/clinical trials and news about C8orf37 / CH037

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C8orf37 gene: 
    NM_177965.3  

    Unigene Cluster for C8orf37:

    Chromosome 8 open reading frame 37
    Hs.548157  [show with all ESTs]
    Unigene Representative Sequence: NM_177965
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000286688(uc003yho.2)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC8orf37 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C8orf37
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8orf37
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C8orf37

    Additional mRNA sequence: 

    AK055162.1 BC036855.2 BC150301.1 GQ240139.1 

    4 DOTS entries:

    DT.40127304  DT.100748146  DT.97809873  DT.102821088 

    23 AceView cDNA sequences:

    BX089757 AA018056 BC036855 AA972183 AI911357 BX100102 AA399492 NM_177965 
    BM543014 N92755 AL134492 AI885321 BU679782 AK055162 BI088674 AA782091 
    BE220870 AI142618 BE670614 AI473651 AA897574 AA018237 R93855 

    GeneLoc Exon Structure


    (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

    C8orf37 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTGGCA
    C8orf37 Expression
    About this image


    See C8orf37 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C8orf37

    SOURCE GeneReport for Unigene cluster: Hs.548157

    UniProtKB/Swiss-Prot: CH037_HUMAN, Q96NL8
    Tissue specificity: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at
    protein level)

        SABiosciences Custom PCR Arrays for C8orf37
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf37

    (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 C8orf37 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2610301B20Rik1 , 5 RIKEN cDNA 2610301B20 gene1, 5 85.19(n)1
    78.74(a)1
      4 (4.85 cM)5
    671571  NM_026005.31  NP_080281.31 
     108745255 
    chicken
    (Gallus gallus)
    Aves C2H8orf371 chromosome 2 open reading frame, human C8orf37 70.09(n)
    61.54(a)
      420235  XM_418346.3  XP_418346.3 
    lizard
    (Anolis carolinensis)
    Reptilia C8ORF376
    Uncharacterized protein
    50(a)
    1 ↔ 1
    4(19506964-19516780)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.68652 Transcribed sequences 74.91(n)    BX715445.1 


    ENSEMBL Gene Tree for C8orf37 (if available)
    TreeFam Gene Tree for C8orf37 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/598 SNPs in C8orf37 are shown (see all 598)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673054
    Cone-rod dystrophy 16 (CORD16)4--see VAR_0673052 R W mis40--------
    VAR_0673064
    Retinitis pigmentosa 64 (RP64)4--see VAR_0673062 Q R mis40--------
    rs25145541,2
    C,F,A,H--91464306(+) ACACAT/CCAGAG 1 -- int117Minor allele frequency- C:0.44NS EA NA CSA 2079
    rs625243941,2
    C,F--91488518(+) AAGAGG/ATGCCA 1 -- int12Minor allele frequency- A:0.13WA NA 238
    rs556935491,2
    C--96261145(+) AAACT-/GTACGAA 1 -- int11Minor allele frequency- GT:0.00NA 2
    rs736954331,2
    C,F--96413807(+) CTAAGA/GAAAAA 1 -- int12Minor allele frequency- G:0.07WA 120
    rs351205481,2
    C,F--96413808(+) TAAGAA/GAAAAA 1 -- int13Minor allele frequency- G:0.08NA 124
    rs1909972201,2
    C--96413814(+) AAAAAA/GGTACT 1 -- int10--------
    rs1435470341,2
    --96413837(+) ATCAAC/TGAACA 1 -- int10--------
    rs1146100471,2
    C,F--96413838(+) TCAACG/CAACAG 1 -- int11Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for C8orf37 (96257141 - 96281462 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C8orf37:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6315CNV Loss18451855
    nsv819165CNV Loss19587683
    nsv525440CNV Loss19592680


    Human Gene Mutation Database (HGMD): C8orf37
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C8orf37
    DNA2.0 Custom Variant and Variant Library Synthesis for C8orf37

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614477    OMIM disorders: --

    UniProtKB/Swiss-Prot: CH037_HUMAN, Q96NL8
  • Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited retinal dystrophy characterized by retinal
    pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone
    photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central
    visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis
    pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Retinitis pigmentosa 64 (RP64) [MIM:614500]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for C8orf37:    About MalaCards
    c8orf37-related retinitis pigmentosa    cone-rod dystrophy 16    cone-rod dystrophy    fundus dystrophy
    rhyns syndrome    polydactyly    retinitis pigmentosa    pigmentary retinopathy
    retinitis    blindness

    1 disease from the University of Copenhagen DISEASES database for C8orf37:
    cone-rod dystrophy

    C8orf37 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C8orf37
    Human Genome Epidemiology (HuGE) Navigator: C8orf37 (1 document)

    Export disorders for C8orf37 gene to outside databases

    (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 C8orf37 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with C8orf37)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular inv olvement. (PubMed id 22177090)1, 2, 3 Estrada-Cuzcano A....Cremers F.P. (2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. (PubMed id 23788369)1 van Huet R.A....Klevering B.J. (2013)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    8. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    9. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (2007)
    10. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 157657 HGNC: 27232 AceView: LOC157657 Ensembl:ENSG00000156172 euGenes: HUgn157657
    ECgene: C8orf37 H-InvDB: C8orf37

    (According to HUGE)
    About This Section
      --

    (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 C8orf37 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C8orf37 gene:
    Search GeneIP for patents involving C8orf37

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



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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