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Aliases for C2orf50 Gene

Aliases for C2orf50 Gene

  • Chromosome 2 Open Reading Frame 50 2 3 5
  • Uncharacterized Protein C2orf50 3

External Ids for C2orf50 Gene

Previous GeneCards Identifiers for C2orf50 Gene

  • GC02P011190
  • GC02P011123
  • GC02P011273

Summaries for C2orf50 Gene

GeneCards Summary for C2orf50 Gene

C2orf50 (Chromosome 2 Open Reading Frame 50) is a Protein Coding gene.

Additional gene information for C2orf50 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 C2orf50 Gene

Genomics for C2orf50 Gene

GeneHancer (GH) Regulatory Elements for C2orf50 Gene

Promoters and enhancers for C2orf50 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
GH02J011132 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.0 31 1.7 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B NEUROD1 SIN3A ZNF2 YY1 C2orf50 FLJ33534 PQLC3 NOL10
GH02J011129 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 652.9 -3.1 -3068 1.3 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 SLC30A9 GLIS2 ZNF143 ATF7 C2orf50 PQLC3 KCNF1 FLJ33534 GC02P011102
GH02J011391 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +258.9 258944 1.6 BCOR ELF3 MXI1 SAP130 MAX ARID4B ZMYM3 SIN3A BMI1 ZNF48 LINC00570 ENSG00000231403 ROCK2 NTSR2 C2orf50 KCNF1 GC02M011344
GH02J010845 Enhancer 1 FANTOM5 ENCODE dbSUPER 1.6 -286.6 -286634 1.5 SOX5 SOX13 FOXA2 RFX1 KDM1A ZBTB12 TEAD3 ENSG00000232056 LINC01954 LOC105373428 KCNF1 C2orf50 PDIA6
GH02J011154 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.3 +22.2 22192 2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF207 SP3 SP5 PQLC3 C2orf50 GC02P011234
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2orf50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf50 gene promoter:
  • Tal-1beta
  • E47
  • AML1a
  • PPAR-gamma2
  • PPAR-gamma1
  • SEF-1 (1)
  • FAC1
  • LyF-1
  • c-Rel
  • RelA

Genomic Locations for C2orf50 Gene

Genomic Locations for C2orf50 Gene
chr2:11,133,053-11,154,564
(GRCh38/hg38)
Size:
21,512 bases
Orientation:
Plus strand
chr2:11,273,179-11,286,916
(GRCh37/hg19)
Size:
13,738 bases
Orientation:
Plus strand

Genomic View for C2orf50 Gene

Genes around C2orf50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf50 Gene

Proteins for C2orf50 Gene

  • Protein details for C2orf50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LR7-CB050_HUMAN
    Recommended name:
    Uncharacterized protein C2orf50
    Protein Accession:
    Q96LR7
    Secondary Accessions:
    • A8K9W3
    • D6W503

    Protein attributes for C2orf50 Gene

    Size:
    162 amino acids
    Molecular mass:
    17838 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf50 Gene

Post-translational modifications for C2orf50 Gene

No Post-translational modifications

Other Protein References for C2orf50 Gene

No data available for DME Specific Peptides for C2orf50 Gene

Domains & Families for C2orf50 Gene

Gene Families for C2orf50 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf50 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf50: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf50 Gene

Function for C2orf50 Gene

Phenotypes From GWAS Catalog for C2orf50 Gene

Gene Ontology (GO) - Molecular Function for C2orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C2orf50: view
genes like me logo Genes that share phenotypes with C2orf50: view

Animal Model Products

CRISPR Products

miRNA for C2orf50 Gene

miRTarBase miRNAs that target C2orf50

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2orf50

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2orf50 Gene

Localization for C2orf50 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 C2orf50 gene
Compartment Confidence
mitochondrion 2
nucleus 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 C2orf50 Gene

Pathways & Interactions for C2orf50 Gene

SuperPathways for C2orf50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C2orf50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf50 Gene

Drugs & Compounds for C2orf50 Gene

No Compound Related Data Available

Transcripts for C2orf50 Gene

mRNA/cDNA for C2orf50 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2orf50 Gene

Chromosome 2 open reading frame 50:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2orf50

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf50 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c
SP1:
SP2:
SP3: -

Relevant External Links for C2orf50 Gene

GeneLoc Exon Structure for
C2orf50
ECgene alternative splicing isoforms for
C2orf50

Expression for C2orf50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf50 Gene

mRNA differential expression in normal tissues according to GTEx for C2orf50 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.8) and Brain - Cortex (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of C2orf50 Gene:

C2orf50

SOURCE GeneReport for Unigene cluster for C2orf50 Gene:

Hs.406894
genes like me logo Genes that share expression patterns with C2orf50: view

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 C2orf50 Gene

Orthologs for C2orf50 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf50 33
  • 98.35 (n)
C2orf50 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H2orf50 34 33
  • 82.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C17H2orf50 33
  • 80.98 (n)
C2orf50 34
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410004P03Rik 16 34 33
  • 74.83 (n)
rat
(Rattus norvegicus)
Mammalia LOC690276 33
  • 73.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf50 34
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf50 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H2orf50 33
  • 62.79 (n)
C2orf50 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf50 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf50 33
  • 58.17 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-18j18.3 33
  • 53.56 (n)
C13H2orf50 34
  • 40 (a)
OneToOne
Species where no ortholog for C2orf50 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2orf50 Gene

ENSEMBL:
Gene Tree for C2orf50 (if available)
TreeFam:
Gene Tree for C2orf50 (if available)

Paralogs for C2orf50 Gene

No data available for Paralogs for C2orf50 Gene

Variants for C2orf50 Gene

Sequence variations from dbSNP and Humsavar for C2orf50 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000010440 -- 11,133,881(+) C/A/T intron_variant
rs1000071511 -- 11,153,938(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000363893 -- 11,133,310(+) G/GTG 5_prime_UTR_variant
rs1000390233 -- 11,151,655(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000497315 -- 11,139,918(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf50 Gene

Variant ID Type Subtype PubMed ID
nsv520789 CNV loss 19592680

Variation tolerance for C2orf50 Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.39; 81.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf50 Gene

Disorders for C2orf50 Gene

Additional Disease Information for C2orf50

No disorders were found for C2orf50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf50 Gene

Publications for C2orf50 Gene

  1. 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
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PMID: 23319000) Luykx JJ … Ophoff RA (Molecular psychiatry 2014) 3 58
  4. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PMID: 22779921) Long P … Rose S (The European journal of neuroscience 2012) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for C2orf50 Gene

Sources for C2orf50 Gene

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