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    C12orf60 chromosome 12 open reading frame 60 [ Homo sapiens (human) ]

    Gene ID: 144608, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C12orf60provided by HGNC
    Official Full Name
    chromosome 12 open reading frame 60provided by HGNC
    Primary source
    HGNC:HGNC:28726
    See related
    Ensembl:ENSG00000182993 AllianceGenome:HGNC:28726
    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
    Broad expression in testis (RPKM 3.6), duodenum (RPKM 1.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C12orf60 in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14803670..14824415)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14680940..14701780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (14956604..14977349)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:14926759-14927676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:14927677-14928593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4276 Neighboring gene H2A.J histone Neighboring gene WW domain binding protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6057 Neighboring gene single-pass membrane protein with coiled-coil domains 3 Neighboring gene ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 Neighboring gene matrix Gla protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Cousminer DL, et al. Hum Mol Genet, 2013 Jul 1. PMID 23449627, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. 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
    5. 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

    EBI GWAS Catalog

    Description
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31651, MGC47869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C12orf60

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_175874.4 → NP_787070.2  uncharacterized protein C12orf60

      See identical proteins and their annotated locations for NP_787070.2

      Status: VALIDATED

      Source sequence(s)
      AC007655, BC015546, BC038836
      Consensus CDS
      CCDS8667.1
      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
      Related
      ENSP00000331691.2, ENST00000330828.3
      Conserved Domains (1) summary
      pfam15047
      Location:9 → 233
      DUF4533; Protein of unknown function (DUF4533)

    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
      14803670..14824415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018874.2 → XP_016874363.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
      Conserved Domains (1) summary
      pfam15047
      Location:9 → 233
      DUF4533; Protein of unknown function (DUF4533)

    2. XM_017018873.2 → XP_016874362.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
      Conserved Domains (1) summary
      pfam15047
      Location:9 → 233
      DUF4533; Protein of unknown function (DUF4533)

    3. XM_011520569.3 → XP_011518871.1  uncharacterized protein C12orf60 isoform X1

      See identical proteins and their annotated locations for XP_011518871.1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
      Conserved Domains (1) summary
      pfam15047
      Location:9 → 233
      DUF4533; Protein of unknown function (DUF4533)

    4. XM_005253322.5 → XP_005253379.1  uncharacterized protein C12orf60 isoform X1

      See identical proteins and their annotated locations for XP_005253379.1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
      Conserved Domains (1) summary
      pfam15047
      Location:9 → 233
      DUF4533; Protein of unknown function (DUF4533)

    5. XM_011520568.3 → XP_011518870.1  uncharacterized protein C12orf60 isoform X1

      See identical proteins and their annotated locations for XP_011518870.1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
      Conserved Domains (1) summary
      pfam15047
      Location:9 → 233
      DUF4533; Protein of unknown function (DUF4533)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      14680940..14701780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371205.1 → XP_054227180.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2

    2. XM_054371203.1 → XP_054227178.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2

    3. XM_054371202.1 → XP_054227177.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2

    4. XM_054371206.1 → XP_054227181.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2

    5. XM_054371204.1 → XP_054227179.1  uncharacterized protein C12orf60 isoform X1

      UniProtKB/Swiss-Prot
      A8K1M7, Q5U649, Q5XKK8, Q8IXY2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U649.2 GenPept UniProtKB/Swiss-Prot:Q5U649

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