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Aliases for C2orf40 Gene

Aliases for C2orf40 Gene

  • Chromosome 2 Open Reading Frame 40 2 3 5
  • Esophageal Cancer Related Gene 4 Protein 2 3
  • Esophageal Cancer-Related Gene 4 Protein 3 4
  • ECRG4 3 4

External Ids for C2orf40 Gene

Previous GeneCards Identifiers for C2orf40 Gene

  • GC02P106679
  • GC02P100451

Summaries for C2orf40 Gene

GeneCards Summary for C2orf40 Gene

C2orf40 (Chromosome 2 Open Reading Frame 40) is a Protein Coding gene. Diseases associated with C2orf40 include Esophageal Cancer.

UniProtKB/Swiss-Prot for C2orf40 Gene

  • Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2orf40 Gene

Genomics for C2orf40 Gene

Regulatory Elements for C2orf40 Gene

Enhancers for C2orf40 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C2orf40 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2orf40 Gene

Chromosome:
2
Start:
106,063,246 bp from pter
End:
106,078,159 bp from pter
Size:
14,914 bases
Orientation:
Plus strand

Genomic View for C2orf40 Gene

Genes around C2orf40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf40 Gene

Proteins for C2orf40 Gene

  • Protein details for C2orf40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1Z8-AUGN_HUMAN
    Recommended name:
    Augurin
    Protein Accession:
    Q9H1Z8
    Secondary Accessions:
    • D3DVK2

    Protein attributes for C2orf40 Gene

    Size:
    148 amino acids
    Molecular mass:
    17183 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf40 Gene

Proteomics data for C2orf40 Gene at MOPED

Post-translational modifications for C2orf40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf40 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for C2orf40

No data available for DME Specific Peptides for C2orf40 Gene

Domains & Families for C2orf40 Gene

Protein Domains for C2orf40 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1Z8

UniProtKB/Swiss-Prot:

AUGN_HUMAN :
  • Belongs to the augurin family.
Family:
  • Belongs to the augurin family.
genes like me logo Genes that share domains with C2orf40: view

No data available for Gene Families for C2orf40 Gene

Function for C2orf40 Gene

Molecular function for C2orf40 Gene

UniProtKB/Swiss-Prot Function:
Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation.
genes like me logo Genes that share phenotypes with C2orf40: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2orf40 Gene

Localization for C2orf40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2orf40 Gene

Secreted. Cytoplasmic vesicle, secretory vesicle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C2orf40 Gene COMPARTMENTS Subcellular localization image for C2orf40 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C2orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030133 transport vesicle IEA --
genes like me logo Genes that share ontologies with C2orf40: view

Pathways & Interactions for C2orf40 Gene

SuperPathways for C2orf40 Gene

No Data Available

Interacting Proteins for C2orf40 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000238044%0d%0a9606.ENSP00000269305%0d%0a
Selected Interacting proteins: ENSP00000238044 for C2orf40 Gene via STRING

Symbol External ID(s) Details
TP53

Gene Ontology (GO) - Biological Process for C2orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070314 G1 to G0 transition IEA --
GO:0090398 cellular senescence IEA --
genes like me logo Genes that share ontologies with C2orf40: view

No data available for Pathways by source and SIGNOR curated interactions for C2orf40 Gene

Drugs & Compounds for C2orf40 Gene

No Compound Related Data Available

Transcripts for C2orf40 Gene

Unigene Clusters for C2orf40 Gene

Chromosome 2 open reading frame 40:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf40 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - -
SP2: - - -
SP3: - - - - -
SP4: - - - -
SP5: -

Relevant External Links for C2orf40 Gene

GeneLoc Exon Structure for
C2orf40
ECgene alternative splicing isoforms for
C2orf40

Expression for C2orf40 Gene

mRNA expression in normal human tissues for C2orf40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2orf40 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x6.2), Stomach (x4.3), and Artery - Coronary (x4.0).

Protein differential expression in normal tissues from HIPED for C2orf40 Gene

This gene is overexpressed in Heart (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C2orf40 Gene



SOURCE GeneReport for Unigene cluster for C2orf40 Gene Hs.43125

genes like me logo Genes that share expression patterns with C2orf40: view

Protein tissue co-expression partners for C2orf40 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C2orf40 Gene

Orthologs for C2orf40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf40 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C11H2orf40 35
  • 80.95 (n)
  • 81.63 (a)
C11H2orf40 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C10H2orf40 35
  • 87.67 (n)
  • 89.73 (a)
C2orf40 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1500015O10Rik 35
  • 81.53 (n)
  • 83.78 (a)
1500015O10Rik 16
1500015O10Rik 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf40 35
  • 99.55 (n)
  • 99.32 (a)
C2orf40 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1305645 35
  • 81.76 (n)
  • 83.78 (a)
oppossum
(Monodelphis domestica)
Mammalia C2orf40 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf40 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H2ORF40 35
  • 73.81 (n)
  • 69.05 (a)
C2orf40 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf40 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf40 35
  • 70.19 (n)
  • 73.98 (a)
African clawed frog
(Xenopus laevis)
Amphibia ecrg4-A 35
zebrafish
(Danio rerio)
Actinopterygii ecrg4a 35
  • 59.13 (n)
  • 55.65 (a)
C6H2orf40 (2 of 2) 36
  • 42 (a)
OneToMany
C9H2orf40 (1 of 2) 36
  • 47 (a)
OneToMany
Species with no ortholog for C2orf40:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 C2orf40 Gene

ENSEMBL:
Gene Tree for C2orf40 (if available)
TreeFam:
Gene Tree for C2orf40 (if available)

Paralogs for C2orf40 Gene

No data available for Paralogs for C2orf40 Gene

Variants for C2orf40 Gene

Sequence variations from dbSNP and Humsavar for C2orf40 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10187689 - 106,073,912(+) AAGTG(A/G)CCGTT reference, missense
rs755651 -- 106,065,144(+) AGCCC(C/T)GCCTA intron-variant, upstream-variant-2KB
rs1869069 -- 106,065,147(+) CCCGC(C/G)TAAGG intron-variant, upstream-variant-2KB
rs1901462 -- 106,078,198(-) AACGA(A/G)AAATG downstream-variant-500B
rs5833168 -- 106,065,335(+) GCGCT(-/G)GGATC intron-variant, upstream-variant-2KB

Variation tolerance for C2orf40 Gene

Residual Variation Intolerance Score: 87.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.21% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for C2orf40 Gene

Disorders for C2orf40 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C2orf40 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
esophageal cancer
  • esophageal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C2orf40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf40
genes like me logo Genes that share disorders with C2orf40: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C2orf40 Gene

Publications for C2orf40 Gene

  1. Expression of ECRG4, a novel esophageal cancer-related gene, downregulated by CpG island hypermethylation in human esophageal squamous cell carcinoma. (PMID: 12800218) Yue C.M. … Lu S.H. (World J. Gastroenterol. 2003) 2 3 23 67
  2. Thrombin-processed Ecrg4 recruits myeloid cells and induces antitumorigenic inflammation. (PMID: 25378632) Lee J. … Eliceiri B.P. (Neuro-oncology 2015) 3
  3. Esophageal cancer-related gene-4 (ECRG4) interactions with the innate immunity receptor complex. (PMID: 25511108) Podvin S. … Coimbra R. (Inflamm. Res. 2015) 3
  4. ECRG4 acts as a tumor suppressor and as a determinant of chemotherapy resistance in human nasopharyngeal carcinoma. (PMID: 25707757) You Y. … Ran Y. (Cell Oncol (Dordr) 2015) 3
  5. The tumor-promoting function of ECRG4 in papillary thyroid carcinoma and its related mechanism. (PMID: 25326809) Chen J. … Zhang W. (Tumour Biol. 2014) 3

Products for C2orf40 Gene

Sources for C2orf40 Gene

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