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    C12orf54 chromosome 12 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 121273, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C12orf54provided by HGNC
    Official Full Name
    chromosome 12 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:28553
    See related
    Ensembl:ENSG00000177627 AllianceGenome:HGNC:28553
    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
    HSD-29; HSD-30
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
    Orthologs
    all
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    Genomic context

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    See C12orf54 in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48413154..48496524)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48374469..48458370)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48876281..48890307)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily BT member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily BJ member 1 pseudogene Neighboring gene olfactory receptor family 8 subfamily S member 21 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:48840985-48841189 Neighboring gene olfactory receptor family 8 subfamily T member 1 pseudogene Neighboring gene acidic nuclear phosphoprotein 32 family member D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6284 Neighboring gene ribosomal protein S10 pseudogene 20 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:48893480-48894134 Neighboring gene MPRA-validated peak1721 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4408 Neighboring gene olfactory receptor family 8 subfamily S member 1 Neighboring gene olfactory receptor family 5 subfamily BS member 1

    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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC35033

    General protein information

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    Preferred Names
    uncharacterized protein C12orf54

    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_152319.4 → NP_689532.1  uncharacterized protein C12orf54

      See identical proteins and their annotated locations for NP_689532.1

      Status: VALIDATED

      Source sequence(s)
      AC089987, BC031670, BF510008, BQ429029
      Consensus CDS
      CCDS8764.1
      UniProtKB/Swiss-Prot
      Q6X4S9, Q6X4T0, Q8N5S2
      Related
      ENSP00000447109.1, ENST00000548364.7
      Conserved Domains (1) summary
      pfam15732
      Location:1 → 127
      DUF4681; Domain of unknown function (DUF4681)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      48413154..48496524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018796.2 → XP_016874285.1  uncharacterized protein C12orf54 isoform X1

    2. XM_011537896.3 → XP_011536198.1  uncharacterized protein C12orf54 isoform X2

      See identical proteins and their annotated locations for XP_011536198.1

      Conserved Domains (1) summary
      pfam15732
      Location:1 → 99
      DUF4681; Domain of unknown function (DUF4681)

    3. XM_005268636.4 → XP_005268693.1  uncharacterized protein C12orf54 isoform X2

      See identical proteins and their annotated locations for XP_005268693.1

      Conserved Domains (1) summary
      pfam15732
      Location:1 → 99
      DUF4681; Domain of unknown function (DUF4681)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      48374469..48458370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371069.1 → XP_054227044.1  uncharacterized protein C12orf54 isoform X1

    2. XM_054371070.1 → XP_054227045.1  uncharacterized protein C12orf54 isoform X2

    3. XM_054371071.1 → XP_054227046.1  uncharacterized protein C12orf54 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6X4T0.2 GenPept UniProtKB/Swiss-Prot:Q6X4T0

    Gene LinkOut

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

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