Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C12orf50 Gene

Aliases for C12orf50 Gene

  • Chromosome 12 Open Reading Frame 50 2 3 5

External Ids for C12orf50 Gene

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. An important paralog of this gene is ZC3H11A.

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

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
GH12H088034 1.1 ENCODE 0.7 -0.6 -614 2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 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

Promoters for C12orf50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054886 -397 1601 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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:
C12orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q6P674

    Protein attributes for C12orf50 Gene

    Size:
    414 amino acids
    Molecular mass:
    47326 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf50 Gene

Post-translational modifications for C12orf50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf50 Gene

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

genes like me logo Genes that share domains with C12orf50: view

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

Gene Ontology (GO) - Molecular Function for C12orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C12orf50: view

Phenotypes for C12orf50 Gene

GenomeRNAi human phenotypes for C12orf50:
genes like me logo Genes that share phenotypes with C12orf50: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C12orf50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 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

SuperPathways for C12orf50 Gene

No Data Available

Interacting Proteins for C12orf50 Gene

Selected Interacting proteins: Q8NA57-CL050_HUMAN for C12orf50 Gene via UniProtKB IID

Symbol External ID(s) Details
GOLGA2

Gene Ontology (GO) - Biological Process for C12orf50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf50 Gene

Drugs & Compounds for C12orf50 Gene

No Compound Related Data Available

Transcripts for C12orf50 Gene

Unigene Clusters for C12orf50 Gene

Chromosome 12 open reading frame 50:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C12orf50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf50 Gene

No ASD Table

Relevant External Links for C12orf50 Gene

GeneLoc Exon Structure for
C12orf50
ECgene alternative splicing isoforms for
C12orf50

Expression for C12orf50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:

C12orf50

SOURCE GeneReport for Unigene cluster for C12orf50 Gene:

Hs.112930
genes like me logo Genes that share expression patterns with C12orf50: view

Primer 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.

Orthologs for C12orf50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf50 33
  • 99.28 (n)
C12orf50 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C15H12orf50 33
  • 92.11 (n)
C12orf50 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC500827 33
  • 86.84 (n)
mouse
(Mus musculus)
Mammalia 1700017N19Rik 33 16 34
  • 85.88 (n)
cow
(Bos Taurus)
Mammalia C12orf50 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C12orf50 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C12orf50 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12ORF50 33
  • 60.63 (n)
C12orf50 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf50 34
  • 42 (a)
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)

Evolution for C12orf50 Gene

ENSEMBL:
Gene Tree for C12orf50 (if available)
TreeFam:
Gene Tree for C12orf50 (if available)

Paralogs for C12orf50 Gene

Paralogs for C12orf50 Gene

(1) SIMAP similar genes for C12orf50 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C12orf50: view

Variants for C12orf50 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for C12orf50 Gene

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

Variation tolerance for C12orf50 Gene

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

Genetic Association Database (GAD)
C12orf50
Human Genome Epidemiology (HuGE) Navigator
C12orf50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein JI … Sullivan PF (Nature communications 2014) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for C12orf50 Gene

Sources for C12orf50 Gene

Content
Loading form....