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.
Additional gene information for C12orf50 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
GeneHancer (GH) Regulatory Elements for C12orf50 Gene
Promoters and enhancers for C12orf50 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12I088034 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 550.8 | -0.6 | -613 | 2.4 | HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 | C12orf29 C12orf50 CEP290 TMTC3 RNA5SP364 | |
| GH12I088029 | Promoter | 0.7 | EPDnew | 550.4 | +6.0 | 6014 | 0.1 | CEBPB CEBPG | C12orf50 C12orf29 GC12M087998 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around C12orf50 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for C12orf50 Gene
Genomic Locations for C12orf50 Gene
- chr12:87,980,035-88,035,403
- (GRCh38/hg38)
- Size:
- 55,369 bases
- Orientation:
- Minus strand
- chr12:88,373,816-88,427,814
- (GRCh37/hg19)
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
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-
Santa Cruz Biotechnology (SCBT) Antibodies for C12orf50
Protein Products
-
OriGene Purified Proteins for C12orf50
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- Search GeneTex for Proteins for C12orf50
Assay Products
No data available for DME Specific Peptides for C12orf50 Gene
Domains & Families for C12orf50 Gene
Gene Families for C12orf50 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for C12orf50 Gene
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf50 Gene
Function for C12orf50 Gene
Phenotypes From GWAS Catalog 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
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for C12orf50 gene
-
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- Search ViGene Biosciences for C12orf50
CRISPR Products
-
OriGene CRISPR knockouts for C12orf50
- genomics-online: gRNA clones - Search results for 35 available C12ORF50 gene related products
- Overview of 35 available C12ORF50 gene related products
- Applied Biological Materials CRISPR for C12orf50
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf50
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miRNA Products
- Search ViGene Biosciences for C12orf50
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 35 available C12ORF50 gene related products
- Overview of 35 available C12ORF50 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf50 gene
Clone Products
-
OriGene ORF clones in human for C12orf50
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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
- Applied Biological Materials Clones for C12orf50
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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 , Subcellular locations from the Human Protein Atlas (HPA) 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
- genomics-online: gRNA clones - Search results for 35 available C12ORF50 gene related products
- Overview of 35 available C12ORF50 gene related products
- Applied Biological Materials CRISPR for C12orf50
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 shrna, sirna, and RNAi products in human, mouse, rat for C12orf50
- Browse OriGene Inhibitory RNA Products For C12orf50
- genomics-online: shRNA clones - Search results for 35 available C12ORF50 gene related products
- Overview of 35 available C12ORF50 gene related products
-
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
- 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
- Applied Biological Materials Clones for C12orf50
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
- genomics-online: primer clones - Search results for 35 available C12ORF50 gene related products
- Overview of 35 available C12ORF50 gene related products
Gene Expression Assay Products
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 33 |
|
||
| C12orf50 34 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C15H12orf50 33 |
|
||
| C12orf50 34 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | LOC500827 33 |
|
||
| mouse (Mus musculus) |
Mammalia | 1700017N19Rik 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | C12orf50 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | C12orf50 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf50 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C12ORF50 33 |
|
||
| C12orf50 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | C12orf50 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000024193 | -- | 88,009,479(-) | T/A | intron_variant | |
| rs1000058034 | -- | 87,991,788(-) | G/A | intron_variant | |
| rs1000077536 | -- | 88,011,370(-) | T/C | intron_variant | |
| rs1000096815 | -- | 88,028,342(-) | T/A | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000256812 | -- | 87,991,458(-) | G/A | 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)
Additional Variant Information for C12orf50 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- C12orf50
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf50 Gene
Disorders for C12orf50 Gene
Additional Disease Information for C12orf50
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature genetics 2004) 3 4 58
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein JI … Sullivan PF (Nature communications 2014) 3 58
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
Products for C12orf50 Gene
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- Custom Antibody ServicesOriGene Antibodies for C12orf50
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- Cyagen custom Knockout/knockin (KOKI) mouse models for C12orf50
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- 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
- GeneTex C12orf50 antibody for C12orf50
- Search GeneTex for Proteins for C12orf50
- ViGene Biosciences adenoviral particle packaged cDNA for C12orf50 gene
- ViGene Biosciences lentiviral particle packaged cDNA for C12orf50 gene
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- Search ViGene Biosciences for C12orf50
- Santa Cruz Biotechnology (SCBT) Antibodies for C12orf50
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- genomics-online: cdna clones - Search results for 35 available C12ORF50 gene related products
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- Overview of 35 available C12ORF50 gene related products
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems