Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



C5orf42 Gene

protein-coding   GIFtS: 46
GCID: GC05M037107

Chromosome 5 Open Reading Frame 42

  See C5orf42-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

TryGeneCards Plus

Aliases
Chromosome 5 Open Reading Frame 421 2
JBTS172 5
Transmembrane Protein ENSP000003825822
Uncharacterized Protein C5orf422
EC 2.3.18
EC 3.6.18

External Ids:    HGNC: 258011   Entrez Gene: 652502   Ensembl: ENSG000001976037   OMIM: 6145715   UniProtKB: Q9H7993   

Export aliases for C5orf42 gene to outside databases

Previous GC identifer: GC05M037144


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

TryGeneCards Plus

Entrez Gene summary for C5orf42 Gene:
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in
this gene are a cause of Joubert syndrome (JBTS). (provided by RefSeq, May 2012)

GeneCards Summary for C5orf42 Gene:
C5orf42 (chromosome 5 open reading frame 42) is a protein-coding gene. Diseases associated with C5orf42 include joubert syndrome 17, and c5orf42-related joubert syndrome.

Gene Wiki entry for C5orf42 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf42 gene promoter:
         ER-alpha   AML1a   HOXA3   Bach2   CUTL1   E47   AREB6   HFH-1   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C5orf42

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf42


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

Entrez Gene cytogenetic band: 5p13.2   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.2

C5orf42 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf42 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M037107:  view genomic region     (about GC identifiers)

Start:
37,106,330 bp from pter      End:
37,249,530 bp from pter
Size:
143,201 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CE042_HUMAN, Q9H799 (See protein sequence)
Recommended Name: Uncharacterized protein C5orf42  
Size: 3197 amino acids; 361746 Da
Sequence caution: Sequence=AAH28410.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence and intronic sequence in 5'; Sequence=AAI44070.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAI50595.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14513.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14513.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential intronic sequence in 5';
Sequence=BAB14999.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14999.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB15539.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04822.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: A8MUB7 B7ZLV7 Q4G174 Q6DK46 Q8N8L4 Q9H5T1 Q9H8T9
Alternative splicing: 2 isoforms:  Q9H799-1   Q9H799-5   (Variant in position: 2684:A->T (in JBTS17))

Explore the universe of human proteins at neXtProt for C5orf42: NX_Q9H799

Explore proteomics data for C5orf42 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for C5orf42 (Q9H799)
     SVAVATP  AAILTSL 


    See C5orf42 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_075561.3  
    ENSEMBL proteins: 
     ENSP00000421690   ENSP00000426337   ENSP00000424223   ENSP00000473657   ENSP00000389014  
     ENSP00000274258  

    C5orf42 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for C5orf42
    GenScript Custom Purified and Recombinant Proteins Services for C5orf42
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C5orf42

     
    Search eBioscience for Proteins for C5orf42 

    C5orf42 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for C5orf42
    Novus Biologicals C5orf42 Antibody
    Abcam antibodies for C5orf42
    Cloud-Clone Corp. Antibodies for C5orf42
    Search ThermoFisher Antibodies for C5orf42
    Search LSBio for Antibodies for C5orf42

    C5orf42 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for C5orf42
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for C5orf42
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for C5orf42
    Cloud-Clone Corp. CLIAs for C5orf42
    Search eBioscience for ELISAs for C5orf42 


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR017986 WD40_repeat_dom
     IPR028236 Joubert

    Graphical View of Domain Structure for InterPro Entry Q9H799

    ProtoNet protein and cluster: Q9H799


    Find genes that share domains with C5orf42           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 2.3.12

    Phenotypes:
         1 GenomeRNAi human phenotype for C5orf42:
     Increased cell number in G1, s 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C5orf42
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C5orf42

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C5orf42
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C5orf42

    miRNA
    Products:
        
    miRTarBase miRNAs that target C5orf42:
    hsa-mir-92a-3p (MIRT049741)

    Block miRNA regulation of human, mouse, rat C5orf42 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C5orf42 (see all 13):
    hsa-miR-125a-3p hsa-miR-539 hsa-miR-130a* hsa-miR-548o hsa-miR-488 hsa-miR-23c hsa-miR-373* hsa-miR-33a*
    SwitchGear 3'UTR luciferase reporter plasmidC5orf42 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C5orf42
    Predesigned siRNA for gene silencing in human, mouse, rat C5orf42

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C5orf42

    Clone
    Products:
         
    OriGene clones in human, mouse for C5orf42 (see all 8)
    OriGene ORF clones in mouse, rat for C5orf42
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C5orf42 (NM_023073)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf42
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C5orf42

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for C5orf42
    Browse ESI BIO Cell Lines and PureStem Progenitors for C5orf42 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf42


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CE042_HUMAN, Q9H799: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with C5orf42           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C5orf42
    Interactions:

        Search GeneGlobe Interaction Network for C5orf42

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C5orf42 (ENSP000002742584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAK1ENSP000002785684STRING: ENSP00000278568
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C5orf42 (CE042)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for C5orf42 gene: 
    NM_023073.3  

    Unigene Cluster for C5orf42:

    Chromosome 5 open reading frame 42
    Hs.586199  [show with all ESTs]
    Unigene Representative Sequence: NM_023073
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508244(uc003jko.1 uc011cpb.1) ENST00000509849(uc003jkr.1)
    ENST00000514429 ENST00000512288 ENST00000509957 ENST00000504716 ENST00000505121
    ENST00000508405 ENST00000511824 ENST00000511210 ENST00000515380 ENST00000510830
    ENST00000511781 ENST00000505431 ENST00000425232(uc011cpa.1) ENST00000274258(uc003jkp.1 uc011coy.1 uc003jks.2 uc011coz.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C5orf42 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C5orf42 (see all 13):
    hsa-miR-125a-3p hsa-miR-539 hsa-miR-130a* hsa-miR-548o hsa-miR-488 hsa-miR-23c hsa-miR-373* hsa-miR-33a*
    SwitchGear 3'UTR luciferase reporter plasmidC5orf42 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C5orf42
    Predesigned siRNA for gene silencing in human, mouse, rat C5orf42
    Clone
    Products:
         
    OriGene clones in human, mouse for C5orf42 (see all 8)
    OriGene ORF clones in mouse, rat for C5orf42
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C5orf42 (NM_023073)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf42
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C5orf42
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for C5orf42
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C5orf42
      QuantiTect SYBR Green Assays in human, mouse, rat C5orf42
      QuantiFast Probe-based Assays in human, mouse, rat C5orf42

    Additional mRNA sequence: 

    AK023293.1 AK024779.1 AK026735.1 AK055192.1 AK096581.1 AL832176.1 AL833065.2 BC028410.1 
    BC074774.2 BC144069.1 BC144070.1 BC144072.1 BC150594.1 BX647602.1 BX649121.1 

    17 DOTS entries:

    DT.208169  DT.40206154  DT.97837723  DT.95340958  DT.91993381  DT.97826088  DT.100024825  DT.120836431 
    DT.120836438  DT.95257112  DT.100776375  DT.120808928  DT.120808929  DT.97771136  DT.120836410  DT.437718 
    DT.99985631 

    Selected AceView cDNA sequences (see all 77):

    AI591353 AI160931 BF942228 BQ678036 AI568062 BC028410 AA291293 AI865979 
    AA883329 BF942008 BU189724 AW450331 AK024779 AL832176 BX119100 BQ021365 
    CA425147 BQ010099 CB132948 AI581071 CA415468 BU685554 AA452174 AI436046 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C5orf42 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^
    SP1:                                            -                                                                                                               
    SP2:                                                                                                              -                                             
    SP3:                                                                                                                                                            
    SP4:                                            -                                                                                                               
    SP5:                                                                                                              -                 -                           

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27
    SP1:                                                                  
    SP2:                                                                  
    SP3:                          -           -                           
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for C5orf42

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    C5orf42 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C5orf42 Expression
    About this image


    C5orf42 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    C5orf42 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C5orf42 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.586199
        Custom PCR Arrays for C5orf42
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for C5orf42
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C5orf42
    QuantiTect SYBR Green Assays in human, mouse, rat C5orf42
    QuantiFast Probe-based Assays in human, mouse, rat C5orf42
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf42

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for C5orf42 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2410089E03Rik1 , 5 RIKEN cDNA 2410089E03 gene1, 5 77.59(n)1
    68.8(a)1
      15 (3.82 cM)5
    736921  NM_001162906.11  NP_001156378.11 
     81691065 
    chicken
    (Gallus gallus)
    Aves CZH5ORF421 chromosome Z open reading frame, human C5orf42 60.03(n)
    49.01(a)
      427440  XM_001234076.3  XP_001234077.3 
    lizard
    (Anolis carolinensis)
    Reptilia C5orf426
    chromosome 5 open reading frame 42
    39(a)
    1 ↔ 1
    GL343241.1(1005930-1050749)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480228012   -- 73.21(n)    48022801 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-209l12.11 si:ch73-209l12.1 47.45(n)
    39.22(a)
      792625  XM_005169146.1  XP_005169203.1 


    ENSEMBL Gene Tree for C5orf42 (if available)
    TreeFam Gene Tree for C5orf42 (if available)

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

    TryGeneCards Plus
      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for C5orf42 (see all 2591)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0681654
    Joubert syndrome 17 (JBTS17)4--see VAR_0681652 R W mis40--------
    rs1112948551,2
    C,Fpathogenic137101689(+) GCCTGC/TTCTCA 1 -- int11Minor allele frequency- T:0.00EU 585
    rs1396755961,2
    Cpathogenic137109965(+) TGGTCG/AAAAAG 2 /R /* stg11Minor allele frequency- A:0.00NA 4534
    rs1929422311,2
    --37050088(+) AAGGAC/TTAATA 1 -- int10--------
    rs1840238451,2
    --37050187(+) AAAGAC/TGACAT 1 -- int10--------
    rs1886045651,2
    --37050252(+) AAAGGA/GAGTCA 1 -- int10--------
    rs1813583861,2
    --37050264(+) TACCAC/TAATGA 1 -- int10--------
    rs1853073981,2
    --37050275(+) GGTATC/GGCTGC 1 -- int10--------
    rs1161973791,2
    F--37050543(+) AAAGAG/TATATC 1 -- ut311Minor allele frequency- T:0.01NA 120
    rs730957051,2
    C,F--37050551(+) ATCTGG/CACTCC 1 -- ut311Minor allele frequency- C:0.00WA 2

    HapMap Linkage Disequilibrium report for C5orf42 (37106330 - 37249530 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for C5orf42:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667122CNV Deletion23128226
    esv2674155CNV Deletion23128226
    nsv830265CNV Loss17160897
    nsv525478CNV Loss19592680
    nsv880406CNV Gain21882294
    nsv881511CNV Gain21882294
    nsv881512CNV Gain21882294
    dgv6037n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): C5orf42
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C5orf42
    DNA2.0 Custom Variant and Variant Library Synthesis for C5orf42

    (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

    TryGeneCards Plus
    OMIM gene information: 614571   
    OMIM disorders: 614615  
    UniProtKB/Swiss-Prot: CE042_HUMAN, Q9H799
  • Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 6 diseases for C5orf42:    
    About MalaCards
    joubert syndrome 17    c5orf42-related joubert syndrome    monomelic amyotrophy    joubert syndrome 21
    joubert syndrome 22    joubert syndrome and related disorders


    Find genes that share disorders with C5orf42           About GenesLikeMe


    Export disorders for C5orf42 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

    TryGeneCards Plus

    PubMed articles for C5orf42 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with C5orf42)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. (PubMed id 22264561)1, 2, 3 Lim Y.M.... Kim K.K. (Neuromuscul. Disord. 2012)
    2. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PubMed id 22425360)1, 2 Srour M....Michaud J.L. (Am. J. Hum. Genet. 2012)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (Nature 2004)
    5. C5orf42 is the major gene responsible for OFD syndrome type VI. (PubMed id 24178751)1 Lopez E....AttiAc-Bitach T. (Hum. Genet. 2014)
    6. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. (PubMed id 23169490)1 Shaheen R....Alkuraya F.S. (Eur. J. Hum. Genet. 2013)
    7. Mutations in TMEM231 cause Joubert syndrome in French Canadians. (PubMed id 23012439)2 Srour M.... Michaud J.L. (J. Med. Genet. 2012)
    8. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    9. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 65250 HGNC: 25801 AceView: FLJ13231 Ensembl:ENSG00000197603 euGenes: HUgn65250
    ECgene: C5orf42 H-InvDB: C5orf42

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for C5orf42 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for C5orf42 gene:
    Search GeneIP for patents involving C5orf42

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for C5orf42  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for C5orf42  
     OriGene qSTAR qPCR primer pairs in human, mouse for C5orf42   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for C5orf42   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for C5orf42   OriGene Custom Protein Services for C5orf42  

     
     
     Block miRNA regulation of human, mouse, rat C5orf42 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing C5orf42
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf42 Predesigned siRNA for gene silencing in human, mouse, rat C5orf42
     QuantiFast Probe-based Assays in human, mouse, rat C5orf42 QuantiTect SYBR Green Assays in human, mouse, rat C5orf42
     Custom PCR Arrays for C5orf42 Search Chromatin IP Primers for C5orf42
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C5orf42  Search GeneGlobe Interaction Network for C5orf42
     Regulatory tfbs in C5orf42 promoter
     GenScript Custom Purified and Recombinant Proteins Services for C5orf42 GenScript cDNA clones with any tag delivered in your preferred vector for C5orf42
     GenScript Custom Assay Services for C5orf42 GenScript Custom overexpressing Cell Line Services for C5orf42
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for C5orf42 (CE042)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     C5orf42 antibodies
     Antibodies for C5orf42
     See all of Abcam's Antibodies, Kits and Proteins for C5orf42
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for C5orf42
     Antibodies for C5orf42
     ELISAs for C5orf42
     CLIAs for C5orf42



     Browse ESI BIO Cell Lines and PureStem Progenitors for C5orf42
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf42
     SwitchGear 3'UTR luciferase reporter plasmids for C5orf42
     Browse SwitchGear Promoter luciferase reporter plasmids for C5orf42
     Search ThermoFisher Antibodies for C5orf42
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C5orf42
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C5orf42
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C5orf42
     Search LSBio for Antibodies for C5orf42
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for C5orf42
      Search eBioscience for proteins for C5orf42
      Search eBioscience for elisas for C5orf42
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      C5orf42 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4