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    C3orf18 chromosome 3 open reading frame 18 [ Homo sapiens (human) ]

    Gene ID: 51161, updated on 29-Mar-2018

    Summary

    Official Symbol
    C3orf18provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 18provided by HGNC
    Primary source
    HGNC:HGNC:24837
    See related
    Ensembl:ENSG00000088543 Vega:OTTHUMG00000156854
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G20
    Expression
    Broad expression in heart (RPKM 6.2), testis (RPKM 4.7) and 24 other tissues See more
    Orthologs

    Genomic context

    See C3orf18 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (50558025..50574835, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50595456..50608458, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 2 Neighboring gene uncharacterized LOC105377082 Neighboring gene uncharacterized LOC105377083 Neighboring gene HemK methyltransferase family member 1 Neighboring gene VISTA enhancer hs1747 Neighboring gene cytokine inducible SH2 containing protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    uncharacterized protein C3orf18

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001171740.2NP_001165211.1  uncharacterized protein C3orf18 isoform 1

      See identical proteins and their annotated locations for NP_001165211.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AA716515, BC034766, DA535127, DB166816
      Consensus CDS
      CCDS2829.1
      UniProtKB/Swiss-Prot
      Q9UK00
      Related
      ENSP00000387606.1, OTTHUMP00000210813, ENST00000426034.5, OTTHUMT00000346249
      Conserved Domains (1) summary
      TIGR04216
      Location:1384
      halo_surf_glyco; major cell surface glycoprotein
    2. NM_001171741.2NP_001165212.1  uncharacterized protein C3orf18 isoform 1

      See identical proteins and their annotated locations for NP_001165212.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AA716515, AF188706, DA535127, DB027651
      Consensus CDS
      CCDS2829.1
      UniProtKB/Swiss-Prot
      Q9UK00
      Related
      ENSP00000404913.1, OTTHUMP00000210812, ENST00000449241.5, OTTHUMT00000346248
      Conserved Domains (1) summary
      TIGR04216
      Location:1384
      halo_surf_glyco; major cell surface glycoprotein
    3. NM_001171743.2NP_001165214.2  uncharacterized protein C3orf18 isoform 2

      See identical proteins and their annotated locations for NP_001165214.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AA716515, AK308074, AL833938, DA535127, DB166816
      Consensus CDS
      CCDS54589.1
      UniProtKB/Swiss-Prot
      Q9UK00
      Related
      ENSP00000414124.1, OTTHUMP00000210815, ENST00000441239.5, OTTHUMT00000346252
    4. NM_016210.4NP_057294.2  uncharacterized protein C3orf18 isoform 1

      See identical proteins and their annotated locations for NP_057294.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AA716515, AL833938, DA535127, DB166816
      Consensus CDS
      CCDS2829.1
      UniProtKB/Swiss-Prot
      Q9UK00
      Related
      ENSP00000349732.3, OTTHUMP00000210818, ENST00000357203.7, OTTHUMT00000346260
      Conserved Domains (1) summary
      TIGR04216
      Location:1384
      halo_surf_glyco; major cell surface glycoprotein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      50558025..50574835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533781.2XP_011532083.1  uncharacterized protein C3orf18 isoform X1

    2. XM_011533788.1XP_011532090.1  uncharacterized protein C3orf18 isoform X3

      See identical proteins and their annotated locations for XP_011532090.1

      UniProtKB/TrEMBL
      Q6ZP18
    3. XM_011533785.2XP_011532087.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532087.1

    4. XM_011533784.2XP_011532086.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532086.1

    5. XM_017006547.1XP_016862036.1  uncharacterized protein C3orf18 isoform X4

      UniProtKB/Swiss-Prot
      Q9UK00
    6. XM_011533790.1XP_011532092.1  uncharacterized protein C3orf18 isoform X4

      See identical proteins and their annotated locations for XP_011532092.1

      UniProtKB/Swiss-Prot
      Q9UK00
    7. XM_017006545.1XP_016862034.1  uncharacterized protein C3orf18 isoform X3

      UniProtKB/TrEMBL
      Q6ZP18
    8. XM_011533782.2XP_011532084.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532084.1

    9. XM_011533789.1XP_011532091.1  uncharacterized protein C3orf18 isoform X3

      See identical proteins and their annotated locations for XP_011532091.1

      UniProtKB/TrEMBL
      Q6ZP18
    10. XM_024453548.1XP_024309316.1  uncharacterized protein C3orf18 isoform X3

    11. XM_011533783.2XP_011532085.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532085.1

    12. XM_024453549.1XP_024309317.1  uncharacterized protein C3orf18 isoform X3

    13. XM_017006546.1XP_016862035.1  uncharacterized protein C3orf18 isoform X3

      UniProtKB/TrEMBL
      Q6ZP18
    14. XM_024453550.1XP_024309318.1  uncharacterized protein C3orf18 isoform X3

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