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Aliases for C6orf120 Gene

Aliases for C6orf120 Gene

  • Chromosome 6 Open Reading Frame 120 2 3 5

External Ids for C6orf120 Gene

Previous GeneCards Identifiers for C6orf120 Gene

  • GC00U913935
  • GC06U900682
  • GC06P169844
  • GC06P170102
  • GC06P167522

Summaries for C6orf120 Gene

Entrez Gene Summary for C6orf120 Gene

  • 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]

GeneCards Summary for C6orf120 Gene

C6orf120 (Chromosome 6 Open Reading Frame 120) is a Protein Coding gene. Among its related pathways are Innate Immune System.

UniProtKB/Swiss-Prot for C6orf120 Gene

  • May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes.

Additional gene information for C6orf120 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C6orf120 Gene

Genomics for C6orf120 Gene

Regulatory Elements for C6orf120 Gene

Enhancers for C6orf120 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H169700 1.1 ENCODE 22.7 +0.2 193 4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 WDR27 FAM120B TBP C6orf120 LINC02519 ENSG00000266896 PDCD2 PHF10 ENSG00000227704
GH06H169653 1.2 FANTOM5 Ensembl ENCODE 19.4 -47.4 -47423 2 CTCF E2F1 CTBP1 ZBTB33 RUNX3 RAD21 SETDB1 C6orf120 WDR27 LINC02519 FAM120B TCTE3 PIR33877
GH06H169669 0.8 Ensembl ENCODE 27.2 -31.7 -31749 1 JUN MAX MYC NR2F2 C6orf120 WDR27 PIR33877
GH06H169721 1.1 ENCODE 17.2 +22.0 22006 4 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 WDR27 ERMARD C6orf120 FAM120B ENSG00000266896 TBP TCTE3 ENSG00000236173 ENSG00000227704
GH06H169799 1.3 Ensembl ENCODE 11 +98.6 98590 2 FOXA2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 GLIS2 FOS SP5 WDR27 C6orf120 ENSG00000266896 LINC00242 ENSG00000236173
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C6orf120 on UCSC Golden Path with GeneCards custom track

Promoters for C6orf120 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000207224 39 2401 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for C6orf120 Gene

Chromosome:
6
Start:
169,702,161 bp from pter
End:
169,706,306 bp from pter
Size:
4,146 bases
Orientation:
Plus strand

Genomic View for C6orf120 Gene

Genes around C6orf120 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf120 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf120 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C6orf120 Gene

Proteins for C6orf120 Gene

  • Protein details for C6orf120 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4R8-CF120_HUMAN
    Recommended name:
    UPF0669 protein C6orf120
    Protein Accession:
    Q7Z4R8
    Secondary Accessions:
    • B4DHE9
    • E1P5C9

    Protein attributes for C6orf120 Gene

    Size:
    191 amino acids
    Molecular mass:
    20772 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C6orf120 Gene

Post-translational modifications for C6orf120 Gene

  • Glycosylation at Asn53
  • Modification sites at PhosphoSitePlus

Other Protein References for C6orf120 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C6orf120 Gene

Domains & Families for C6orf120 Gene

Gene Families for C6orf120 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C6orf120 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C6orf120 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z4R8

UniProtKB/Swiss-Prot:

CF120_HUMAN :
  • Belongs to the UPF0669 family.
Family:
  • Belongs to the UPF0669 family.
genes like me logo Genes that share domains with C6orf120: view

Function for C6orf120 Gene

Molecular function for C6orf120 Gene

UniProtKB/Swiss-Prot Function:
May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes.

Phenotypes for C6orf120 Gene

genes like me logo Genes that share phenotypes with C6orf120: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C6orf120
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C6orf120 Gene

Localization for C6orf120 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C6orf120 Gene

Secreted. Note=Secreted by hepatocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C6orf120 gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for C6orf120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0035578 azurophil granule lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with C6orf120: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C6orf120 Gene

Pathways & Interactions for C6orf120 Gene

genes like me logo Genes that share pathways with C6orf120: view

Pathways by source for C6orf120 Gene

3 Reactome pathways for C6orf120 Gene

Gene Ontology (GO) - Biological Process for C6orf120 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with C6orf120: view

No data available for SIGNOR curated interactions for C6orf120 Gene

Drugs & Compounds for C6orf120 Gene

No Compound Related Data Available

Transcripts for C6orf120 Gene

mRNA/cDNA for C6orf120 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C6orf120 Gene

Chromosome 6 open reading frame 120:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C6orf120
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf120 Gene

No ASD Table

Relevant External Links for C6orf120 Gene

GeneLoc Exon Structure for
C6orf120
ECgene alternative splicing isoforms for
C6orf120

Expression for C6orf120 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C6orf120 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C6orf120 Gene

This gene is overexpressed in Urine (27.7) and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C6orf120 Gene



Protein tissue co-expression partners for C6orf120 Gene

NURSA nuclear receptor signaling pathways regulating expression of C6orf120 Gene:

C6orf120

SOURCE GeneReport for Unigene cluster for C6orf120 Gene:

Hs.591375

mRNA Expression by UniProt/SwissProt for C6orf120 Gene:

Q7Z4R8-CF120_HUMAN
Tissue specificity: Mainly expressed in hepatocytes and some weak expression in germinal center cells of lymph nodes.

Evidence on tissue expression from TISSUES for C6orf120 Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with C6orf120: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for C6orf120 Gene

Orthologs for C6orf120 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C6orf120 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6orf120 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C9H6orf120 33 34
  • 82.88 (n)
dog
(Canis familiaris)
Mammalia C12H6orf120 33
  • 79.78 (n)
C6orf120 34
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1600012H06Rik 33 16 34
  • 77.17 (n)
rat
(Rattus norvegicus)
Mammalia LOC100125364 33
  • 76.09 (n)
oppossum
(Monodelphis domestica)
Mammalia C6orf120 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H6ORF120 33 34
  • 68.12 (n)
lizard
(Anolis carolinensis)
Reptilia C6orf120 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c6orf120 33
  • 60.96 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:77929 33
  • 63.17 (n)
C11H6orf120 34
  • 45 (a)
OneToOne
Species where no ortholog for C6orf120 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C6orf120 Gene

ENSEMBL:
Gene Tree for C6orf120 (if available)
TreeFam:
Gene Tree for C6orf120 (if available)

Paralogs for C6orf120 Gene

No data available for Paralogs for C6orf120 Gene

Variants for C6orf120 Gene

Sequence variations from dbSNP and Humsavar for C6orf120 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000023966 -- 169,704,969(+) CTAGG(A/G)ATGAA intron-variant, utr-variant-3-prime
rs1000127001 -- 169,701,914(+) TAGGG(A/G)AGGAC upstream-variant-2KB, utr-variant-5-prime
rs1000192868 -- 169,702,414(+) GTCCC(C/T)AGCAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000233806 -- 169,700,830(+) ATCCC(C/T)ACCTC intron-variant, upstream-variant-2KB
rs1000499157 -- 169,701,722(+) CTCTG(A/G)TCCAG upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for C6orf120 Gene

Variant ID Type Subtype PubMed ID
nsv1032232 CNV loss 25217958
nsv605499 CNV gain 21841781
nsv830872 CNV loss 17160897

Variation tolerance for C6orf120 Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C6orf120 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6orf120

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf120 Gene

Disorders for C6orf120 Gene

Relevant External Links for C6orf120

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C6orf120

No disorders were found for C6orf120 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C6orf120 Gene

Publications for C6orf120 Gene

  1. Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4⁺ T lymphocytes. (PMID: 22340178) Li X … Wei HS (Chinese medical journal 2011) 2 3 4 60
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 60
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for C6orf120 Gene

Sources for C6orf120 Gene

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