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

Gene ID: 144608, updated on 5-Mar-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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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

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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 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)

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

  • 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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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

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