Format

Send to:

Choose Destination

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

Gene ID: 387882, updated on 11-Sep-2019

Summary

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
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

Genomic context

See C12orf75 in Genome Data Viewer
Location:
12q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (105330691..105371518)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105724414..105765296)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369953 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Neighboring gene renal clear cell carcinoma-associated transcript 198 Neighboring gene uncharacterized LOC105369957 Neighboring gene uncharacterized LOC105369956 Neighboring gene uncharacterized LOC105369955

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC148100, MGC149157

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001145199.2NP_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
    Related
    ENSP00000448536.1, ENST00000443585.5
    Conserved Domains (1) summary
    pfam15506
    Location:162
    OCC1; OCC1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    105330691..105371518
    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.
Support Center