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    C20orf203 chromosome 20 open reading frame 203 [ Homo sapiens (human) ]

    Gene ID: 284805, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C20orf203provided by HGNC
    Official Full Name
    chromosome 20 open reading frame 203provided by HGNC
    Primary source
    HGNC:HGNC:26592
    See related
    Ensembl:ENSG00000198547 AllianceGenome:HGNC:26592
    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
    Summary
    The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    20q11.21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32631625..32673941, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34360296..34402612, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31219427..31261743, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene nucleolar protein 4 like Neighboring gene uncharacterized LOC105372592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31124544-31125515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31126487-31127458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31128887-31129392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31129393-31129898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31149672-31150323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31151241-31151782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31158183-31158907 Neighboring gene Sharpr-MPRA regulatory region 4335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31164325-31165278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31168247-31168946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31184984-31185484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31185485-31185985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31186003-31186504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31189553-31190054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12803 Neighboring gene NOL4L divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31193059-31193558 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31193901-31194067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31198315-31198930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31198931-31199544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31206902-31207402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31211056-31211606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31226763-31227262 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31226322-31226509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31235460-31235960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31235961-31236461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31252264-31252832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31252833-31253400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31254622-31255122 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31259991-31260490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31263362-31264064 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31267024-31267622 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31266424-31267023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31267623-31268222 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:31268822-31269421 and GRCh37_chr20:31269422-31270020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31271401-31271902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31271903-31272402 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31274017-31274656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31277881-31278443 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:31290694-31291210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31293307-31294054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31296664-31297170 Neighboring gene Sharpr-MPRA regulatory region 13573 Neighboring gene BCL2 antagonist/killer 1 pseudogene 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr20:31310141-31310642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31310711-31311220 Neighboring gene COMM domain containing 7 Neighboring gene Sharpr-MPRA regulatory region 10337 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31320600-31321468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31321469-31322336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31324911-31325766 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31326137-31326302 Neighboring gene OCT4 hESC enhancer GRCh37_chr20:31328938-31329439 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31329890-31330064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31330109-31330936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12806

    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
    • 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. Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples. Saccone SF, et al. Am J Hum Genet, 2007 May. PMID 17436240, Free PMC Article
    2. Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs. Uhl GR, et al. BMC Genet, 2007 Apr 3. PMID 17407593, Free PMC Article
    3. Mapping and verification of susceptibility loci for smoking quantity using permutation linkage analysis. Wang D, et al. Pharmacogenomics J, 2005. PMID 15724146
    4. De novo origin of human protein-coding genes. Wu DD, et al. PLoS Genet, 2011 Nov. PMID 22102831, Free PMC Article
    5. A human-specific de novo protein-coding gene associated with human brain functions. Li CY, et al. PLoS Comput Biol, 2010 Mar 26. PMID 20376170, Free PMC Article

    See all (13) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33706

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    uncharacterized protein C20orf203
    Names
    alugen

    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_182584.4 → NP_872390.2  uncharacterized protein C20orf203

      See identical proteins and their annotated locations for NP_872390.2

      Status: VALIDATED

      Source sequence(s)
      BC105014, BM662904, FO393400, GU931819
      Consensus CDS
      CCDS13203.1
      UniProtKB/Swiss-Prot
      B8JHY2, Q8NBC4
      Related
      ENSP00000495424.1, ENST00000608990.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32631625..32673941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440131.1 → XP_047296087.1  uncharacterized protein C20orf203 isoform X1

      UniProtKB/Swiss-Prot
      B8JHY2, Q8NBC4
      Related
      ENSP00000495162.1, ENST00000360785.6

    2. XM_024451878.2 → XP_024307646.1  uncharacterized protein C20orf203 isoform X1

      UniProtKB/Swiss-Prot
      B8JHY2, Q8NBC4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34360296..34402612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323396.1 → XP_054179371.1  uncharacterized protein C20orf203 isoform X1

      UniProtKB/Swiss-Prot
      B8JHY2, Q8NBC4

    2. XM_054323395.1 → XP_054179370.1  uncharacterized protein C20orf203 isoform X1

      UniProtKB/Swiss-Prot
      B8JHY2, Q8NBC4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_026959.1: Suppressed sequence

      Description
      NR_026959.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBC4.2 GenPept UniProtKB/Swiss-Prot:Q8NBC4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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