Aliases for C12orf50 Gene
External Ids for C12orf50 Gene
- HGNC: 26665
- Entrez Gene: 160419
- Ensembl: ENSG00000165805
- UniProtKB: Q8NA57
Previous GeneCards Identifiers for C12orf50 Gene
- GC12M086877
- GC12M088373
- GC12M085440
Summaries for C12orf50 Gene
GeneCards Summary for C12orf50 Gene
C12orf50 (Chromosome 12 Open Reading Frame 50) is a Protein Coding gene.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf50 Gene
Genomics for C12orf50 Gene
Regulatory Elements for C12orf50 Gene
Enhancers for C12orf50 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 |
|---|---|---|---|---|---|---|---|---|
| GH12G088034 | 1.1 | ENCODE | 0.7 | -0.6 | -614 | 2.4 | HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 | CEP290 TMTC3 C12orf50 RNA5SP364 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around C12orf50 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the C12orf50 gene promoter:
Regulatory Element Products
Genomic Location for C12orf50 Gene
- Chromosome:
- 12
- Start:
- 87,980,035 bp from pter
- End:
- 88,035,403 bp from pter
- Size:
- 55,369 bases
- Orientation:
- Minus strand
Genomic View for C12orf50 Gene
Genes around C12orf50 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q21.32 by Ensembl
- 12q21.32 by Entrez Gene
- 12q21.32 by HGNC
C12orf50 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 C12orf50 Gene
Proteins for C12orf50 Gene
-
Protein details for C12orf50 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NA57-CL050_HUMAN
- Recommended name:
- Uncharacterized protein C12orf50
- Protein Accession:
- Q8NA57
- Q6P674
Protein attributes for C12orf50 Gene
- Size:
- 414 amino acids
- Molecular mass:
- 47326 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for C12orf50 Gene
Other Protein References for C12orf50 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for C12orf50
- Novus Biologicals Antibodies for C12orf50
-
Abcam antibodies for C12orf50
- GeneTex C12orf50 antibody for C12orf50
-
Santa Cruz Biotechnology (SCBT) Antibodies for C12orf50
Protein Products
-
OriGene Purified Proteins for C12orf50
- Search Origene for MassSpec and Protein Over-expression Lysates for C12orf50
- Origene Custom Protein Services for C12orf50
- Novus Biologicals lysates for C12orf50
- Search GeneTex for Proteins for C12orf50
Assay Products
No data available for DME Specific Peptides for C12orf50 Gene
Domains & Families for C12orf50 Gene
Protein Domains for C12orf50 Gene
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf50 Gene
Function for C12orf50 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for C12orf50 Gene
- GenomeRNAi human phenotypes for C12orf50:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for C12orf50
-
-
ViGene Biosciences lentiviral particle packaged cDNA for C12orf50 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf50 gene
- Search ViGene Biosciences for C12orf50
CRISPR Products
-
OriGene CRISPR knockouts for C12orf50
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf50
- GenScript: Design CRISPR guide RNA sequences for C12orf50
miRNA Products
- Search ViGene Biosciences for C12orf50
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for C12orf50
- Browse OriGene Inhibitory RNA Products For C12orf50
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf50 gene
Clone Products
-
OriGene ORF clones in human for C12orf50
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for C12orf50
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf50
-
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
Cell Line Products
-
Horizon Cell Lines for C12orf50
-
ViGene Biosciences adenoviral particle packaged cDNA for C12orf50 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for C12orf50 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf50 gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C12orf50 Gene
Localization for C12orf50 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 2 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf50 Gene
Pathways & Interactions for C12orf50 Gene
No data available for Pathways by source and SIGNOR curated interactions for C12orf50 Gene
Transcripts for C12orf50 Gene
mRNA/cDNA for C12orf50 Gene
- (5) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (28) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for C12orf50 Gene
CRISPR Products
-
OriGene CRISPR knockouts for C12orf50
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf50
- GenScript: Design CRISPR guide RNA sequences for C12orf50
miRNA Products
- Search ViGene Biosciences for C12orf50
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for C12orf50
- Browse OriGene Inhibitory RNA Products For C12orf50
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf50 gene
Clone Products
-
OriGene ORF clones in human for C12orf50
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for C12orf50
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf50
-
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 C12orf50 Gene
mRNA differential expression in normal tissues according to GTEx for C12orf50 Gene
This gene is overexpressed in Testis (x51.4).
NURSA nuclear receptor signaling pathways regulating expression of C12orf50 Gene:
C12orf50SOURCE GeneReport for Unigene cluster for C12orf50 Gene:
Hs.112930Primer Products
-
OriGene qPCR primer pairs for C12orf50
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf50 Gene
Orthologs for C12orf50 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf50 34 |
|
||
| C12orf50 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C15H12orf50 34 |
|
||
| C12orf50 35 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | LOC500827 34 |
|
||
| mouse (Mus musculus) |
Mammalia | 1700017N19Rik 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | C12orf50 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | C12orf50 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf50 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C12ORF50 34 |
|
||
| C12orf50 35 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | C12orf50 35 |
|
OneToOne |
- Species where no ortholog for C12orf50 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)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for C12orf50 Gene
(1) SIMAP similar genes for C12orf50 Gene using alignment to 3 proteins:
No data available for Paralogs for C12orf50 Gene
Variants for C12orf50 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000024193 | -- | 88,009,479(+) | TATGA(A/T)AGCAG | intron-variant | |
| rs1000058034 | -- | 87,991,788(+) | AAGGT(A/G)TGCAT | intron-variant | |
| rs1000077536 | -- | 88,011,370(+) | TTTAG(C/T)TGCAG | intron-variant | |
| rs1000096815 | -- | 88,028,342(+) | TTTCC(A/T)AACAG | intron-variant, upstream-variant-2KB | |
| rs1000256812 | -- | 87,991,458(+) | ATTTA(A/G)AATTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2746169 | CNV | deletion | 23290073 |
| esv2746170 | CNV | deletion | 23290073 |
| esv2746171 | CNV | deletion | 23290073 |
| esv3892241 | CNV | gain | 25118596 |
| nsv483111 | CNV | loss | 15286789 |
Residual Variation Intolerance Score:
83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.25;
62.40% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for C12orf50 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- C12orf50
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf50 Gene
Disorders for C12orf50 Gene
Relevant External Links for C12orf50
No disorders were found for C12orf50 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf50 Gene
Publications for C12orf50 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
- Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein J.I. … Sullivan P.F. (Nat Commun 2014) 3 64
- The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. (PMID: 22632162) Lin C.W. … Jan M.S. (J Drug Target 2012) 3 64
Products for C12orf50 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
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- Custom Antibody ServicesOriGene Antibodies for C12orf50
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for C12orf50
- Search Origene for MassSpec and Protein Over-expression Lysates for C12orf50
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- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C12orf50
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- OriGene qPCR primer pairs for C12orf50
- OriGene CRISPR knockouts for C12orf50
- OriGene ORF clones in human for C12orf50
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for C12orf50 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for C12orf50
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- GenScript: Design CRISPR guide RNA sequences for C12orf50
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- Novus Biologicals Antibodies for C12orf50
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ViGene Biosciences adenoviral particle packaged cDNA for C12orf50 gene
- ViGene Biosciences lentiviral particle packaged cDNA for C12orf50 gene
- ViGene Biosciences ready-to-package AAV shRNAs for C12orf50 gene
- Search ViGene Biosciences for C12orf50
- Santa Cruz Biotechnology (SCBT) Antibodies for C12orf50
- Search Santa Cruz Biotechnology (SCBT) for C12orf50 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for C12orf50
- Horizon Cell Lines for C12orf50
- Cyagen custom Knockout/knockin (KOKI) mouse models for C12orf50
- VectorBuilder custom plasmid, inducible vectors for C12orf50
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf50
- 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 C12orf50 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
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (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