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    C12orf56 chromosome 12 open reading frame 56 [ Homo sapiens (human) ]

    Gene ID: 115749, updated on 17-Jun-2024

    Summary

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    Official Symbol
    C12orf56provided by HGNC
    Official Full Name
    chromosome 12 open reading frame 56provided by HGNC
    Primary source
    HGNC:HGNC:26967
    See related
    Ensembl:ENSG00000185306 AllianceGenome:HGNC:26967
    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
    Expression
    Biased expression in testis (RPKM 3.2), placenta (RPKM 0.3) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C12orf56 in Genome Data Viewer
    Location:
    12q14.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (64264762..64390758, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (64243579..64369391, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64658542..64784538, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1009, pseudogene Neighboring gene KICSTOR subunit 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:64608983-64609180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64615884-64616478 Neighboring gene uncharacterized LOC124902952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6591 Neighboring gene RNA, U5A small nuclear 7, pseudogene Neighboring gene OOEP pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:64713302-64713880 Neighboring gene ATPase H+ transporting V1 subunit E1 pseudogene 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4620 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:64798894-64799770 Neighboring gene ribosomal protein S11 pseudogene 6 Neighboring gene exportin for tRNA Neighboring gene MPRA-validated peak1761 silencer Neighboring gene mitochondrial ribosomal protein S25 pseudogene

    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. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    2. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    4. 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

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    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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    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C12orf56

    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_001099676.3 → NP_001093146.1  uncharacterized protein C12orf56 isoform 2

      See identical proteins and their annotated locations for NP_001093146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC012158, AC135279, BC014352, BC039369, BX089271
      Consensus CDS
      CCDS44935.1
      UniProtKB/Swiss-Prot
      Q8IXR9
      Related
      ENSP00000329698.5, ENST00000333722.9
      Conserved Domains (1) summary
      pfam15087
      Location:12 → 459
      DUF4551; Protein of unknown function (DUF4551)

    2. NM_001170633.2 → NP_001164104.1  uncharacterized protein C12orf56 isoform 1

      See identical proteins and their annotated locations for NP_001164104.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC012158, AC135279
      Consensus CDS
      CCDS61182.1
      UniProtKB/Swiss-Prot
      Q8IXR9
      Related
      ENSP00000446101.2, ENST00000543942.7
      Conserved Domains (1) summary
      pfam15087
      Location:12 → 619
      DUF4551; Protein of unknown function (DUF4551)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      64264762..64390758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428257.1 → XP_047284213.1  uncharacterized protein C12orf56 isoform X3

    2. XM_024448831.2 → XP_024304599.1  uncharacterized protein C12orf56 isoform X4

      Conserved Domains (1) summary
      pfam15087
      Location:12 → 437
      DUF4551; Protein of unknown function (DUF4551)

    3. XM_024448830.2 → XP_024304598.1  uncharacterized protein C12orf56 isoform X1

      Conserved Domains (1) summary
      pfam15087
      Location:12 → 506
      DUF4551; Protein of unknown function (DUF4551)

    4. XM_047428256.1 → XP_047284212.1  uncharacterized protein C12orf56 isoform X2

    5. XM_017018770.2 → XP_016874259.1  uncharacterized protein C12orf56 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      64243579..64369391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371016.1 → XP_054226991.1  uncharacterized protein C12orf56 isoform X3

    2. XM_054371017.1 → XP_054226992.1  uncharacterized protein C12orf56 isoform X4

    3. XM_054371014.1 → XP_054226989.1  uncharacterized protein C12orf56 isoform X1

    4. XM_054371015.1 → XP_054226990.1  uncharacterized protein C12orf56 isoform X2

    5. XM_054371018.1 → XP_054226993.1  uncharacterized protein C12orf56 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXR9.3 GenPept UniProtKB/Swiss-Prot:Q8IXR9

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