U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 144608, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    12p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14803670..14824415)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14680940..14701780)
    105.20220307 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    Preferred Names
    uncharacterized protein C12orf60

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_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
      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

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous