C12orf50 Gene (Protein Coding)

Chromosome 12 Open Reading Frame 50

GC12M087980
GIFtS:
31
See more...

Aliases for C12orf50 Gene

Aliases for C12orf50 Gene

  • Chromosome 12 Open Reading Frame 50 2 3 5
  • Uncharacterized Protein C12orf50 3 4
  • C12orf50 5
  • FLJ35821 2

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. Diseases associated with C12orf50 include Autosomal Recessive Non-Syndromic Intellectual Disability. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf50 Gene

Genomics for C12orf50 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH12J088029 Promoter 0.5 EPDnew 250.7 +4.6 4648 0.1 CEBPB CEBPG C12orf50 C12orf29 HSALNG0092879 lnc-C12orf50-3 piR-47086-099
GH12J088034 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.7 -2.3 -2264 3 CHD2 TBP ZBTB10 MXD4 FEZF1 SIX5 MNT DEK SMAD5 ETS1 C12orf29 HSALNG0092880 LOC107984542 CEP290 TMTC3 C12orf50 HSALNG0092879 MN309582
GH12J088063 Enhancer 0.5 Ensembl 0.3 -29.7 -29664 0.6 BATF JUNB ATF7 MTA2 ETV6 ENSG00000257752 lnc-C12orf50-4 HSALNG0092885 C12orf50 HE855976 CEP290
GH12J088133 Enhancer 0.5 Ensembl 0.2 -98.5 -98464 0.2 MAFF ZNF316 NFE2 NFE2L2 MAFK MAFG BACH1 EMSY CEP290 HE855976 ENSG00000257752 lnc-C12orf50-4 C12orf50
GH12J088038 Enhancer 0.2 Ensembl 0.4 -5.3 -5264 1 CEP290 TMTC3 HSALNG0092880 C12orf29 C12orf50 MN309582 HSALNG0092879
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf50 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf50

Top Transcription factor binding sites by QIAGEN in the C12orf50 gene promoter:
  • C/EBPbeta
  • E4BP4
  • FOXD3
  • FOXF2
  • HSF1short
  • MRF-2
  • POU2F1
  • POU2F1a

Genomic Locations for C12orf50 Gene

Latest Assembly
chr12:87,980,035-88,034,037
(GRCh38/hg38)
Size:
54,003 bases
Orientation:
Minus strand

Previous Assembly
chr12:88,373,812-88,423,178
(GRCh37/hg19 by Entrez Gene)
Size:
49,367 bases
Orientation:
Minus strand

chr12:88,373,816-88,427,814
(GRCh37/hg19 by Ensembl)
Size:
53,999 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 Structure • Gene Density

RefSeq DNA sequence for C12orf50 Gene

Proteins for C12orf50 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for C12orf50

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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf50 Gene

Function for C12orf50 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for C12orf50 Gene

Gene Ontology (GO) - Molecular Function for C12orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C12orf50: view
genes like me logo Genes that share phenotypes with C12orf50: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf50

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 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C12orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000346 colocalizes_with transcription export complex IBA 21873635
genes like me logo Genes that share ontologies with C12orf50: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for C12orf50 Gene

Pathways & Interactions for C12orf50 Gene

PathCards logo

SuperPathways for C12orf50 Gene

No Data Available

Interacting Proteins for C12orf50 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q8NA57-CL050_HUMAN ENSP00000298699 for C12orf50 Gene via UniProtKB STRING IID

GPS-Prot Interaction Network for C12orf50

Gene Ontology (GO) - Biological Process for C12orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016973 poly(A)+ mRNA export from nucleus IBA 21873635
genes like me logo Genes that share ontologies with C12orf50: view

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

Drugs & Compounds for C12orf50 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for C12orf50 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for C12orf50 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf50

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

No ASD Table

Relevant External Links for C12orf50 Gene

GeneLoc Exon Structure for
C12orf50

Expression for C12orf50 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf50 Gene

mRNA expression in normal human tissues for C12orf50 Gene
mRNA expression by BioGPS for C12orf50 GenemRNA expression by GTEx for C12orf50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for C12orf50 Gene

This gene is overexpressed in Testis (x51.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf50

SOURCE GeneReport for Unigene cluster for C12orf50 Gene:

Hs.112930

Evidence on tissue expression from TISSUES for C12orf50 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with C12orf50: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt 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 30
  • 99.28 (n)
C12orf50 31
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C15H12orf50 30
  • 92.11 (n)
C12orf50 31
  • 87 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia LOC500827 30
  • 86.84 (n)
Mouse
(Mus musculus)
 Mammalia 1700017N19Rik 30 17 31
  • 85.88 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia C12orf50 31
  • 75 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C12orf50 31
  • 69 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia C12orf50 31
  • 50 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves C12ORF50 30
  • 60.63 (n)
C12orf50 31
  • 41 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia C12orf50 31
  • 42 (a)
 OneToOne
Species where no ortholog for C12orf50 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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:

  • CL050_HUMAN
  • F8VSD7_HUMAN
  • F8VXH4_HUMAN
genes like me logo Genes that share paralogs with C12orf50: view

Variants for C12orf50 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf50 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10777084 - p.Gln306Arg
rs11104703 - p.Arg322His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C12orf50 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for C12orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf50

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf50 Gene

Disorders for C12orf50 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf50 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf50

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C12orf50: view

No data available for 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
  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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

ExternalLinks

View latest publications for C12orf50 gene in Mastermind

Products for C12orf50 Gene

Sources for C12orf50 Gene