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    C5orf42 chromosome 5 open reading frame 42 [ Homo sapiens (human) ]

    Gene ID: 65250, updated on 10-Sep-2016
    Official Symbol
    C5orf42provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 42provided by HGNC
    Primary source
    HGNC:HGNC:25801
    See related
    Ensembl:ENSG00000197603 HPRD:07822; MIM:614571; Vega:OTTHUMG00000160492
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Hug; OFD6; JBTS17
    Summary
    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]
    Orthologs
    Location:
    5p13.2
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (37063928..37249428, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (37079423..37249530, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NIPBL antisense RNA 1 (head to head) Neighboring gene keratin 18 pseudogene 31 Neighboring gene NIPBL, cohesin loading factor Neighboring gene ribosomal protein S4X pseudogene 6 Neighboring gene chromosome 8 open reading frame 59 pseudogene 2 Neighboring gene uncharacterized LOC105374727 Neighboring gene OFD1 pseudogene 17 Neighboring gene RNA, 7SL, cytoplasmic 37, pseudogene Neighboring gene nucleoporin 155 Neighboring gene RNA, U7 small nuclear 75 pseudogene Neighboring gene WD repeat domain 70 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ13231, FLJ21126, DKFZp686K02105

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to ciliary transition zone IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ciliary transition zone IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    uncharacterized protein C5orf42
    Names
    Transmembrane protein ENSP00000382582

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032772.1 RefSeqGene

      Range
      5001..148201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_023073.3NP_075561.3  uncharacterized protein C5orf42

      See identical proteins and their annotated locations for NP_075561.3

      Status: REVIEWED

      Source sequence(s)
      AC025449, AL833065, AW996738, BC144069, DB448866, DN831769, DW009792, DW009948, DW009949, DW009996, DW009997, DY655086, EG327639, KF457889
      Consensus CDS
      CCDS34146.2
      UniProtKB/Swiss-Prot
      Q9H799
      Related
      ENSP00000389014, ENST00000425232
      Conserved Domains (1) summary
      pfam15392
      Location:28393187
      Joubert; Joubert syndrome-associated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      37063928..37249428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514089.2XP_011512391.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28933194
      Joubert; Joubert syndrome-associated
    2. XM_011514087.2XP_011512389.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28753223
      Joubert; Joubert syndrome-associated
    3. XM_011514088.2XP_011512390.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28573212
      Joubert; Joubert syndrome-associated
    4. XM_005248345.3XP_005248402.1  

      See identical proteins and their annotated locations for XP_005248402.1

      Conserved Domains (1) summary
      pfam15392
      Location:28933241
      Joubert; Joubert syndrome-associated
    5. XM_017009765.1XP_016865254.1  

    6. XM_017009762.1XP_016865251.1  

    7. XM_017009763.1XP_016865252.1  

    8. XM_017009764.1XP_016865253.1  

    9. XM_011514094.2XP_011512396.1  

      Related
      ENSP00000424223, OTTHUMP00000218310, ENST00000514429, OTTHUMT00000360819
      Conserved Domains (1) summary
      pfam15392
      Location:19682323
      Joubert; Joubert syndrome-associated
    10. XM_017009766.1XP_016865255.1  

      Conserved Domains (1) summary
      pfam15392
      Location:17742122
      Joubert; Joubert syndrome-associated
    11. XM_006714491.3XP_006714554.1  

      Conserved Domains (1) summary
      pfam15392
      Location:10841432
      Joubert; Joubert syndrome-associated
    12. XM_005248349.3XP_005248406.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28563204
      Joubert; Joubert syndrome-associated
    13. XM_005248346.3XP_005248403.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28923240
      Joubert; Joubert syndrome-associated
    14. XM_005248347.3XP_005248404.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28923240
      Joubert; Joubert syndrome-associated
    15. XM_005248350.3XP_005248407.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28503198
      Joubert; Joubert syndrome-associated
    16. XM_017009761.1XP_016865250.1  

    17. XM_011514086.2XP_011512388.1  

      See identical proteins and their annotated locations for XP_011512388.1

      Conserved Domains (1) summary
      pfam15392
      Location:28933241
      Joubert; Joubert syndrome-associated
    18. XM_011514090.2XP_011512392.1  

      Conserved Domains (1) summary
      pfam15392
      Location:27873142
      Joubert; Joubert syndrome-associated
    19. XM_017009760.1XP_016865249.1  

    20. XM_011514085.2XP_011512387.1  

      See identical proteins and their annotated locations for XP_011512387.1

      Conserved Domains (1) summary
      pfam15392
      Location:28933241
      Joubert; Joubert syndrome-associated
    21. XM_011514092.2XP_011512394.1  

      Conserved Domains (1) summary
      pfam15392
      Location:28933009
      Joubert; Joubert syndrome-associated

    RNA

    1. XR_925644.2 RNA Sequence

    2. XR_427661.3 RNA Sequence

    3. XR_001742208.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      37109131..37252316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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