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C6orf120 chromosome 6 open reading frame 120 [ Homo sapiens (human) ]

Gene ID: 387263, updated on 5-Mar-2024

Summary

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Official Symbol
C6orf120provided by HGNC
Official Full Name
chromosome 6 open reading frame 120provided by HGNC
Primary source
HGNC:HGNC:21247
See related
Ensembl:ENSG00000185127 MIM:616987; AllianceGenome:HGNC:21247
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in fat (RPKM 13.9), adrenal (RPKM 13.5) and 25 other tissues See more
Orthologs
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Genomic context

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See C6orf120 in Genome Data Viewer
Location:
6q27
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (169702126..169706360)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (171056040..171060272)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170102222..170106456)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169829202-169829769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169849141-169850015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169850016-169850889 Neighboring gene WD repeat domain 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169952752-169953720 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:169956378-169956538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169964074-169964574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170017112-170017650 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:170019030-170019674 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:170019675-170020319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170024255-170024754 Neighboring gene uncharacterized LOC124901471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170040667-170041282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170047131-170048124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25463 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170056229-170057024 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170057025-170057820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170061015-170061514 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:170062913-170064112 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:170067058-170067246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170067590-170068090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170068091-170068591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170092723-170093223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17798 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170124719-170125261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17799 Neighboring gene PHD finger protein 10 Neighboring gene MPRA-validated peak6328 silencer Neighboring gene dynein light chain Tctex-type 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170171824-170172324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170172325-170172825 Neighboring gene ER membrane associated RNA degradation Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170183046-170183546 Neighboring gene long intergenic non-protein coding RNA 242 Neighboring gene long intergenic non-protein coding RNA 574

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. Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4⁺ T lymphocytes. Li X, et al. Chin Med J (Engl), 2011 Nov. PMID 22340178
  2. Deletion of the C6orf120 gene with unknown function ameliorates autoimmune hepatitis induced by concanavalin A. Zhang MK, et al. Cell Immunol, 2018 Sep. PMID 29748000
  3. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. Rogner UC, et al. Genome Res, 1996 Oct. PMID 8908511
  4. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP, et al. PLoS Genet, 2011 Sep. PMID 21980299, Free PMC Article
  5. CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement. Beyer T, et al. Mol Cell Proteomics, 2018 Jul. PMID 29615496, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results suggested that C6ORF120 could induce apoptosis of CD4(+) T cells, at least in part, mediated with endoplasmic reticulum stress.
    Title: Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4⁺ T lymphocytes.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
UPF0669 protein C6orf120

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_001029863.3 → NP_001025034.1  UPF0669 protein C6orf120 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001025034.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AL513547
    Consensus CDS
    CCDS34575.1
    UniProtKB/Swiss-Prot
    B4DHE9, E1P5C9, Q7Z4R8
    UniProtKB/TrEMBL
    B4DJ79
    Related
    ENSP00000346931.1, ENST00000332290.4
    Conserved Domains (1) summary
    pfam17065
    Location:8 → 191
    UPF0669; Putative cytokine, C6ORF120

  2. NM_001317342.2 → NP_001304271.1  UPF0669 protein C6orf120 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 5' region and initiates translation at an upstream in-frame start codon compared to variant 1. The encoded isoform (2) has a longer N-terminus than isoform 1.
    Source sequence(s)
    AF055030, AI768935, AK295061, AK295962, AL513547, BC051700, CF994905, CR735892
    UniProtKB/TrEMBL
    B4DJ79
    Conserved Domains (1) summary
    pfam17065
    Location:27 → 210
    UPF0669; Putative cytokine, C6ORF120

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    169702126..169706360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    171056040..171060272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z4R8.1 GenPept UniProtKB/Swiss-Prot:Q7Z4R8

Gene LinkOut

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

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