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

    Gene ID: 51161, updated on 2-Nov-2024

    Summary

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    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 AllianceGenome:HGNC:24837
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 6.2), testis (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C3orf18 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50558025..50574700, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50587914..50604586, complement)
    RS_2024_09 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 LOC124909378 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50497326-50497515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50502013-50502514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50504841-50505342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50522331-50522892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50525585-50526085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50530681-50531336 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50533211-50534158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50541176-50541684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50541685-50542193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50549261-50550206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50553051-50553689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50560501-50561010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50562801-50563438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50569793-50570542 Neighboring gene uncharacterized LOC105377083 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50575146-50575387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50576885-50577561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50584920-50585829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50586902-50587840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50619223-50619724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50619725-50620224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50621581-50622099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19911 Neighboring gene VISTA enhancer hs1747 Neighboring gene HemK methyltransferase family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50648164-50648724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50654302-50655255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50655256-50656208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50662917-50663693 Neighboring gene MAPK activated protein kinase 3 Neighboring gene cytokine inducible SH2 containing protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50684509-50685008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50686500-50687053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50688509-50689442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50689443-50690376 Neighboring gene long intergenic non-protein coding RNA 2019

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Host determinants of HIV-1 control in African Americans. Pelak K, et al. J Infect Dis, 2010 Apr 15. PMID 20205591, Free PMC Article
    2. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    3. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C3orf18

    NCBI Reference Sequences (RefSeq)

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    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_001171740.3 → NP_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
      C9JNP0, Q9UK00
      UniProtKB/TrEMBL
      B2R7V1
      Related
      ENSP00000387606.1, ENST00000426034.5
      Conserved Domains (1) summary
      TIGR04216
      Location:13 → 84
      halo_surf_glyco; major cell surface glycoprotein

    2. NM_001171741.3 → NP_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
      C9JNP0, Q9UK00
      UniProtKB/TrEMBL
      B2R7V1
      Related
      ENSP00000404913.1, ENST00000449241.5
      Conserved Domains (1) summary
      TIGR04216
      Location:13 → 84
      halo_surf_glyco; major cell surface glycoprotein

    3. NM_001171743.3 → NP_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/TrEMBL
      B2R7V1
      Related
      ENSP00000414124.1, ENST00000441239.5

    4. NM_016210.5 → NP_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
      Consensus CDS
      CCDS2829.1
      UniProtKB/Swiss-Prot
      C9JNP0, Q9UK00
      UniProtKB/TrEMBL
      B2R7V1
      Related
      ENSP00000349732.3, ENST00000357203.8
      Conserved Domains (1) summary
      TIGR04216
      Location:13 → 84
      halo_surf_glyco; major cell surface glycoprotein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50558025..50574700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533781.3 → XP_011532083.1  uncharacterized protein C3orf18 isoform X1

    2. XM_047448250.1 → XP_047304206.1  uncharacterized protein C3orf18 isoform X4

      UniProtKB/TrEMBL
      Q6ZP18

    3. XM_011533785.3 → XP_011532087.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532087.1

      UniProtKB/TrEMBL
      B2R7V1

    4. XM_011533784.3 → XP_011532086.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532086.1

      UniProtKB/TrEMBL
      B2R7V1

    5. XM_011533789.2 → XP_011532091.1  uncharacterized protein C3orf18 isoform X4

      See identical proteins and their annotated locations for XP_011532091.1

      UniProtKB/TrEMBL
      Q6ZP18

    6. XM_017006547.2 → XP_016862036.1  uncharacterized protein C3orf18 isoform X5

      UniProtKB/TrEMBL
      B2R7V1

    7. XM_011533783.3 → XP_011532085.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532085.1

      UniProtKB/TrEMBL
      B2R7V1

    8. XM_017006546.2 → XP_016862035.1  uncharacterized protein C3orf18 isoform X4

      UniProtKB/TrEMBL
      Q6ZP18

    9. XM_011533790.2 → XP_011532092.1  uncharacterized protein C3orf18 isoform X5

      See identical proteins and their annotated locations for XP_011532092.1

      UniProtKB/TrEMBL
      B2R7V1

    10. XM_011533782.3 → XP_011532084.1  uncharacterized protein C3orf18 isoform X2

      See identical proteins and their annotated locations for XP_011532084.1

      UniProtKB/TrEMBL
      B2R7V1

    11. XM_047448252.1 → XP_047304208.1  uncharacterized protein C3orf18 isoform X5

    12. XM_047448249.1 → XP_047304205.1  uncharacterized protein C3orf18 isoform X3

      UniProtKB/Swiss-Prot
      C9JNP0, Q9UK00

    13. XM_047448248.1 → XP_047304204.1  uncharacterized protein C3orf18 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50587914..50604586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346724.1 → XP_054202699.1  uncharacterized protein C3orf18 isoform X1

    2. XM_054346733.1 → XP_054202708.1  uncharacterized protein C3orf18 isoform X4

      UniProtKB/TrEMBL
      Q6ZP18

    3. XM_054346727.1 → XP_054202702.1  uncharacterized protein C3orf18 isoform X2

    4. XM_054346729.1 → XP_054202704.1  uncharacterized protein C3orf18 isoform X2

    5. XM_054346731.1 → XP_054202706.1  uncharacterized protein C3orf18 isoform X4

      UniProtKB/TrEMBL
      Q6ZP18

    6. XM_054346734.1 → XP_054202709.1  uncharacterized protein C3orf18 isoform X5

    7. XM_054346725.1 → XP_054202700.1  uncharacterized protein C3orf18 isoform X2

    8. XM_054346732.1 → XP_054202707.1  uncharacterized protein C3orf18 isoform X4

      UniProtKB/TrEMBL
      Q6ZP18

    9. XM_054346735.1 → XP_054202710.1  uncharacterized protein C3orf18 isoform X5

    10. XM_054346726.1 → XP_054202701.1  uncharacterized protein C3orf18 isoform X2

    11. XM_054346736.1 → XP_054202711.1  uncharacterized protein C3orf18 isoform X5

    12. XM_054346730.1 → XP_054202705.1  uncharacterized protein C3orf18 isoform X3

      UniProtKB/Swiss-Prot
      C9JNP0, Q9UK00

    13. XM_054346728.1 → XP_054202703.1  uncharacterized protein C3orf18 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UK00.2 GenPept UniProtKB/Swiss-Prot:Q9UK00

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