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C12orf75 chromosome 12 open reading frame 75 [ Homo sapiens (human) ]

Gene ID: 387882, updated on 17-Sep-2024

Summary

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Official Symbol
C12orf75provided by HGNC
Official Full Name
chromosome 12 open reading frame 75provided by HGNC
Primary source
HGNC:HGNC:35164
See related
Ensembl:ENSG00000235162 AllianceGenome:HGNC:35164
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
AGD3; OCC1; OCC-1
Expression
Broad expression in gall bladder (RPKM 34.2), kidney (RPKM 32.8) and 21 other tissues See more
Orthologs
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Genomic context

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See C12orf75 in Genome Data Viewer
Location:
12q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (105330691..105371518)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (105292506..105333339)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105724469..105765296)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105593258-105593758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105593759-105594259 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4807 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:105629835-105630335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105639601-105640102 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:105655901-105656075 Neighboring gene C12orf75 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4810 Neighboring gene NANOG hESC enhancer GRCh37_chr12:105725551-105726094 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:105737531-105738087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4811 Neighboring gene uncharacterized LOC105369957 Neighboring gene uncharacterized LOC105369956 Neighboring gene uncharacterized LOC105369955

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 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. Downregulation of C12orf75 gene inhibits migration and invasion of liver cancer cell via suppressing the Wnt/β-catenin signaling pathway in vitro. Zhang X, et al. Biochem Biophys Res Commun, 2022 Jul 23. PMID 35576683
  2. Cloning of the mRNA of overexpression in colon carcinoma-1: a sequence overexpressed in a subset of colon carcinomas. Pibouin L, et al. Cancer Genet Cytogenet, 2002 Feb. PMID 11890990
  3. A novel transcript is up-regulated by fasting in the hypothalamus and enhances insulin signalling. Chai B, et al. J Neuroendocrinol, 2013 Mar. PMID 22935015, Free PMC Article
  4. Pan-cancer analysis of the prognostic value of C12orf75 based on data mining. Cai G, et al. Aging (Albany NY), 2021 Jun 1. PMID 34074799, Free PMC Article
  5. OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer. Yousefi F, et al. Mol Biol Rep, 2022 May. PMID 35397713

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Downregulation of C12orf75 gene inhibits migration and invasion of liver cancer cell via suppressing the Wnt/beta-catenin signaling pathway in vitro.
    Title: Downregulation of C12orf75 gene inhibits migration and invasion of liver cancer cell via suppressing the Wnt/β-catenin signaling pathway in vitro.
  2. OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer.
    Title: OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer.
  3. Pan-cancer analysis of the prognostic value of C12orf75 based on data mining.
    Title: Pan-cancer analysis of the prognostic value of C12orf75 based on data mining.
  4. OCC-1D overexpression resulted in increased sub-G1 cell population in MCF7 cells, detected by flow cytometry. Results suggest that OCC1-D variant have an inhibitory effect on APPL2 expression and may regulate the cell cycle status.
    Title: Overexpressed in colorectal carcinoma gene (OCC-1) upregulation and APPL2 gene downregulation in breast cancer specimens.
  5. Study identified three novel transcripts of the OCC-1 gene; two of them, including a novel miRNA, are shown to be associated with the Wnt signaling pathway. Also, OCC-1 was found to affect the transcription level of its neighboring gene APPL2.
    Title: Alternative splicing of the OCC-1 gene generates three splice variants and a novel exonic microRNA, which regulate the Wnt signaling pathway.
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
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
EBI GWAS Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
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

  • MGC148100, MGC149157

General protein information

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Preferred Names
overexpressed in colon carcinoma 1 protein
Names
adipogenesis down-regulated 3
overexpressed in colon carcinoma-1

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_001145199.2 → NP_001138671.1  overexpressed in colon carcinoma 1 protein

    See identical proteins and their annotated locations for NP_001138671.1

    Status: VALIDATED

    Source sequence(s)
    BC013920, BQ021766
    Consensus CDS
    CCDS55879.1
    UniProtKB/Swiss-Prot
    Q8TAD7
    UniProtKB/TrEMBL
    I7HHH9
    Related
    ENSP00000448536.2, ENST00000443585.6
    Conserved Domains (1) summary
    pfam15506
    Location:1 → 62
    OCC1; OCC1 family

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
    105330691..105371518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    105292506..105333339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207376.1: Suppressed sequence

    Description
    NM_207376.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TAD7.2 GenPept UniProtKB/Swiss-Prot:Q8TAD7

Gene LinkOut

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

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