Aliases for C6orf120 Gene
External Ids for C6orf120 Gene
- HGNC: 21247
- Entrez Gene: 387263
- Ensembl: ENSG00000185127
- OMIM: 616987
- UniProtKB: Q7Z4R8
Previous GeneCards Identifiers for C6orf120 Gene
- GC00U913935
- GC06U900682
- GC06P169844
- GC06P170102
- GC06P167522
Summaries 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.
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 |
|---|---|---|---|---|---|---|---|---|
| GH06G169653 | 1.3 | FANTOM5 Ensembl ENCODE | 19.4 | -47.4 | -47423 | 2.1 | CTCF CBX3 MNT ZIC2 RAD21 E2F1 CTBP1 NONO POLR2A SMC3 | C6orf120 WDR27 LINC02519 FAM120B TCTE3 LOC401287 |
| GH06G169700 | 1.1 | ENCODE | 22.7 | +0.2 | 193 | 4.6 | HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 | C6orf120 FAM120B TBP WDR27 LINC02519 ENSG00000266896 PDCD2 PHF10 ENSG00000227704 |
| GH06G169669 | 0.8 | Ensembl ENCODE | 27.2 | -31.7 | -31749 | 1.2 | GATA2 JUN MAX FOS MYC NR2F2 | C6orf120 WDR27 LOC401287 |
| GH06G169721 | 1.1 | ENCODE | 17.3 | +22.0 | 22006 | 4.7 | PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A | C6orf120 ENSG00000266896 ERMARD TCTE3 WDR27 ENSG00000236173 ENSG00000227704 |
| GH06G169689 | 1.1 | FANTOM5 ENCODE | 15.7 | -12.4 | -12402 | 1.0 | BCOR HDAC1 ESRRA TBL1XR1 ETV1 GATA2 ELK1 NCOR1 FOS HES1 | C6orf120 WDR27 LOC401287 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around C6orf120 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 6q27 by Ensembl
- 6q27 by Entrez Gene
- 6q27 by HGNC
C6orf120 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B4DHE9
- E1P5C9
Protein attributes for C6orf120 Gene
- Size:
- 191 amino acids
- Molecular mass:
- 20772 Da
- Quaternary structure:
- No Data Available
Protein Expression for C6orf120 Gene
Post-translational modifications for C6orf120 Gene
Other Protein References for C6orf120 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for C6orf120
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-
Abcam antibodies for C6orf120
- Invitrogen Antibodies for C6orf120
- antibodies-online Antibodies for C6orf120: See all 16
- Search GeneTex for Antibodies for C6orf120
Protein Products
-
OriGene Purified Proteins for C6orf120
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- Search GeneTex for Proteins for C6orf120
Assay Products
No data available for DME Specific Peptides for C6orf120 Gene
Domains & Families for C6orf120 Gene
Suggested Antigen Peptide Sequences for C6orf120 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q7Z4R8- Family:
-
- Belongs to the UPF0669 family.
No data available for Gene Families for C6orf120 Gene
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
- GenomeRNAi human phenotypes for C6orf120:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for C6orf120 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C6orf120 gene
- Search ViGene Biosciences for C6orf120
CRISPR Products
-
OriGene CRISPR knockouts for C6orf120
-
Santa Cruz Biotechnology (SCBT) CRISPR for C6orf120
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miRNA for C6orf120 Gene
- miRTarBase miRNAs that target C6orf120
-
- hsa-mir-27a-3p (MIRT028723)
- hsa-mir-454-3p (MIRT039225)
- hsa-mir-106b-5p (MIRT044361)
- ebv-mir-bart13-3p (MIRT441041)
- hsa-mir-8058 (MIRT503061)
- hsa-mir-4529-3p (MIRT503062)
- hsa-mir-5009-5p (MIRT503063)
- hsa-mir-1269b (MIRT503064)
- hsa-mir-1269a (MIRT503065)
- hsa-mir-5585-3p (MIRT503066)
- hsa-mir-6503-3p (MIRT503067)
- hsa-mir-3681-3p (MIRT503068)
- hsa-mir-216a-3p (MIRT503069)
- hsa-mir-128-3p (MIRT503070)
- hsa-mir-551b-5p (MIRT503071)
- hsa-mir-5691 (MIRT503072)
- hsa-mir-6805-3p (MIRT503073)
- hsa-mir-6502-5p (MIRT503074)
- hsa-mir-1301-5p (MIRT503075)
- hsa-mir-4714-3p (MIRT503076)
miRNA Products
- Search ViGene Biosciences for C6orf120
Inhibitory RNA Products
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-
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for C6orf120
-
ViGene Biosciences adenoviral particle packaged cDNA for C6orf120 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| lysosome | 5 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| 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 |
Pathways & Interactions for C6orf120 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
Pathways by source for C6orf120 Gene
3 Reactome pathways for C6orf120 Gene
Interacting Proteins for C6orf120 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0043312 | neutrophil degranulation | TAS | -- |
No data available for SIGNOR curated interactions for C6orf120 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for C6orf120
-
Santa Cruz Biotechnology (SCBT) CRISPR for C6orf120
- GenScript: Design CRISPR guide RNA sequences for C6orf120
miRNA Products
- Search ViGene Biosciences for C6orf120
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C6orf120
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-
ViGene Biosciences ready-to-package AAV shRNAs for C6orf120 gene
Clone Products
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OriGene ORF clones in human for C6orf120
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- VectorBuilder custom plasmid, inducible vectors for C6orf120
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C6orf120
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for C6orf120 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Head Mesenchyme (Muscoskeletal System)
-
Lung (Respiratory System)
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
NURSA nuclear receptor signaling pathways regulating expression of C6orf120 Gene:
C6orf120SOURCE GeneReport for Unigene cluster for C6orf120 Gene:
Hs.591375mRNA 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for C6orf120
-
OriGene qPCR primer pairs for C6orf120
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C6orf120 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | C9H6orf120 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | C12H6orf120 34 |
|
||
| C6orf120 35 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | 1600012H06Rik 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100125364 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | C6orf120 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C3H6ORF120 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | C6orf120 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | c6orf120 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:77929 34 |
|
||
| C11H6orf120 35 |
|
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)
Paralogs for C6orf120 Gene
No data available for Paralogs for C6orf120 Gene
Variants 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 |
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
- Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4+ T lymphocytes. (PMID: 22340178) Li X. … Wei H.S. (Chin. Med. J. 2011) 2 3 4 64
- Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3 64
- A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
Products for C6orf120 Gene
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- VectorBuilder custom plasmid, inducible vectors for C6orf120
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for C6orf120 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (130) MedlinePlus
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- (133) NCBI Bookshelf
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer