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Aliases for C2orf42 Gene

Aliases for C2orf42 Gene

  • Chromosome 2 Open Reading Frame 42 2 3 5

External Ids for C2orf42 Gene

Previous GeneCards Identifiers for C2orf42 Gene

  • GC02M070230
  • GC02M070377
  • GC02M070113

Summaries for C2orf42 Gene

GeneCards Summary for C2orf42 Gene

C2orf42 (Chromosome 2 Open Reading Frame 42) is a Protein Coding gene.

Additional gene information for C2orf42 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 C2orf42 Gene

Genomics for C2orf42 Gene

GeneHancer (GH) Regulatory Elements for C2orf42 Gene

Promoters and enhancers for C2orf42 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
GH02I070189 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 561.5 +57.8 57801 2.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C2orf42 TIA1 PCBP1-AS1 GMCL1 PCYOX1 MPHOSPH10 ASPRV1 NAGK FAM136A GC02P070210
GH02I070246 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 560.5 +0.4 354 3.3 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 TIA1 C2orf42 TRG-CCC2-1 PCBP1-AS1 GMCL1 MPHOSPH10 CLEC4F TEX261 NAGK ANKRD53
GH02I070182 Promoter 0.5 EPDnew 550.2 +65.8 65818 0.1 C2orf42 ASPRV1 GC02P070210 LINC01816 GC02P069822
GH02I070080 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.5 +162.2 162224 11.6 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 MEF2D PCBP1 TIA1 PCBP1-AS1 TEX261 CLEC4F GMCL1 ANKRD53 C2orf42 MXD1 SNRNP27
GH02I070107 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +137.8 137766 7.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 PCBP1-AS1 C2orf42 FAM136A GMCL1 NAGK SNRNP27 MXD1 PCYOX1 PCBP1 AAK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf42 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf42 gene promoter:

Genomic Locations for C2orf42 Gene

Genomic Locations for C2orf42 Gene
chr2:70,149,880-70,248,615
(GRCh38/hg38)
Size:
98,736 bases
Orientation:
Minus strand
chr2:70,377,012-70,475,747
(GRCh37/hg19)

Genomic View for C2orf42 Gene

Genes around C2orf42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf42 Gene

Proteins for C2orf42 Gene

  • Protein details for C2orf42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWW7-CB042_HUMAN
    Recommended name:
    Uncharacterized protein C2orf42
    Protein Accession:
    Q9NWW7
    Secondary Accessions:
    • D6W5G3
    • Q9H629

    Protein attributes for C2orf42 Gene

    Size:
    574 amino acids
    Molecular mass:
    64077 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf42 Gene

Post-translational modifications for C2orf42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C2orf42 Gene

Domains & Families for C2orf42 Gene

Gene Families for C2orf42 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf42 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf42: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf42 Gene

Function for C2orf42 Gene

Phenotypes From GWAS Catalog for C2orf42 Gene

Gene Ontology (GO) - Molecular Function for C2orf42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C2orf42: view

Phenotypes for C2orf42 Gene

genes like me logo Genes that share phenotypes with C2orf42: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2orf42 Gene

Localization for C2orf42 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 C2orf42 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C2orf42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with C2orf42: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C2orf42 Gene

Pathways & Interactions for C2orf42 Gene

SuperPathways for C2orf42 Gene

No Data Available

Interacting Proteins for C2orf42 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000264434%0d%0a9606.ENSP00000309259%0d%0a
Selected Interacting proteins: ENSP00000264434 Q9NWW7-CB042_HUMAN for C2orf42 Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for C2orf42 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf42 Gene

Drugs & Compounds for C2orf42 Gene

No Compound Related Data Available

Transcripts for C2orf42 Gene

Unigene Clusters for C2orf42 Gene

Chromosome 2 open reading frame 42:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf42 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: - -
SP7: - - - -
SP8: -
SP9: - - - - - - - - - -
SP10: - - - - - - - -
SP11: -

ExUns: 14 ^ 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for C2orf42 Gene

GeneLoc Exon Structure for
C2orf42
ECgene alternative splicing isoforms for
C2orf42

Expression for C2orf42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf42 Gene

mRNA differential expression in normal tissues according to GTEx for C2orf42 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for C2orf42 Gene

This gene is overexpressed in Adrenal (32.7), Colon (19.1), and Testis (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C2orf42 Gene



Protein tissue co-expression partners for C2orf42 Gene

NURSA nuclear receptor signaling pathways regulating expression of C2orf42 Gene:

C2orf42

SOURCE GeneReport for Unigene cluster for C2orf42 Gene:

Hs.720049

Evidence on tissue expression from TISSUES for C2orf42 Gene

  • Intestine(4.1)
  • Skin(4.1)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with C2orf42: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf42 Gene

Orthologs for C2orf42 Gene

This gene was present in the common ancestor of animals.

Orthologs for C2orf42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2ORF42 34
  • 100 (a)
OneToOne
C2AH2orf42 33
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia C2orf42 34
  • 98 (a)
OneToOne
C11H2orf42 33
  • 92.86 (n)
dog
(Canis familiaris)
Mammalia C2ORF42 34
  • 96 (a)
OneToOne
C10H2orf42 33
  • 92.16 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf42 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306746 33
  • 88.15 (n)
mouse
(Mus musculus)
Mammalia C87436 33 16 34
  • 87.22 (n)
chicken
(Gallus gallus)
Aves C22H2ORF42 33 34
  • 74.44 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf42 33
  • 68.02 (n)
Str.15817 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-127d4.3 33
  • 57.24 (n)
C5H2orf42 34
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001614 33
  • 39.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2321 34
  • 20 (a)
OneToOne
Species where no ortholog for C2orf42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 C2orf42 Gene

ENSEMBL:
Gene Tree for C2orf42 (if available)
TreeFam:
Gene Tree for C2orf42 (if available)

Paralogs for C2orf42 Gene

No data available for Paralogs for C2orf42 Gene

Variants for C2orf42 Gene

Sequence variations from dbSNP and Humsavar for C2orf42 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs148471734 uncertain-significance, not specified 70,181,459(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000048221 -- 70,188,687(-) TTTTTT/TTTTT intron_variant
rs1000169294 -- 70,162,050(-) C/T intron_variant
rs1000268509 -- 70,168,059(-) C/T intron_variant
rs1000290168 -- 70,156,431(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf42 Gene

Variant ID Type Subtype PubMed ID
esv2671105 CNV deletion 23128226
esv3591201 CNV loss 21293372
esv3591202 CNV loss 21293372
nsv518294 CNV loss 19592680
nsv582178 CNV loss 21841781

Variation tolerance for C2orf42 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf42 Gene

Human Gene Mutation Database (HGMD)
C2orf42
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf42 Gene

Disorders for C2orf42 Gene

Additional Disease Information for C2orf42

No disorders were found for C2orf42 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf42 Gene

Publications for C2orf42 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. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini AA … Barker JN (Nature communications 2014) 3 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods NT … Monteiro AN (Science signaling 2012) 3 58
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58

Products for C2orf42 Gene

Sources for C2orf42 Gene

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