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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
  • ECRG4 3 4
  • Esophageal Cancer-Related Gene 4 Protein 4
  • Augurin 3

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.

Additional gene information for C2orf40 Gene

No data available for Entrez Gene Summary , CIViC 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 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
GH02H106092 1.2 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +32.0 31985 5 FOXP2 C2orf40 UXS1 NCK2 GC02P106110
GH02H105811 1.3 Ensembl ENCODE dbSUPER 9.9 -250.2 -250216 3 TFAP4 PKNOX1 ATF1 TAL1 JUN EBF1 BATF TCF12 POLR2A GATA2 ENSG00000235522 C2orf40 NCK2
GH02H106123 1.1 ENCODE dbSUPER 11.2 +63.0 63048 4 TBP PKNOX1 FOXA2 ATF1 DMAP1 BATF RARA FOS CREM MIXL1 UXS1 C2orf40 LOC100131114 GC02P106110 ENSG00000233339
GH02H105600 1 ENCODE 10.8 -461.8 -461826 1 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 CAVIN1 NCOA1 C2orf40 ENSG00000235522 LOC285000 PIR53168
GH02H106085 0.8 ENCODE dbSUPER 12.5 +22.6 22600 1 CTCF SMC3 ZNF143 RAD21 C2orf40 GC02P106110
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for C2orf40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf40 Gene

Antibody Products

  • Abcam antibodies for C2orf40

No data available for DME Specific Peptides for C2orf40 Gene

Domains & Families for C2orf40 Gene

Gene Families for C2orf40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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.

Phenotypes From GWAS Catalog for C2orf40 Gene

genes like me logo Genes that share phenotypes with C2orf40: view

Animal Models for C2orf40 Gene

MGI Knock Outs for C2orf40:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C2orf40
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
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 C2orf40 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C2orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0030133 transport vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with C2orf40: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C2orf40 Gene

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://version10.5.string-db.org/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 Q9H1Z8-AUGN_HUMAN for C2orf40 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C2orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031145 anaphase-promoting complex-dependent catabolic process IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C2orf40
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for C2orf40 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C2orf40 Gene:

C2orf40

SOURCE GeneReport for Unigene cluster for C2orf40 Gene:

Hs.43125

Evidence on tissue expression from TISSUES for C2orf40 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with C2orf40: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf40 33
  • 99.55 (n)
C2orf40 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2orf40 34
  • 90 (a)
OneToOne
C10H2orf40 33
  • 87.67 (n)
rat
(Rattus norvegicus)
Mammalia RGD1305645 33
  • 81.76 (n)
mouse
(Mus musculus)
Mammalia 1500015O10Rik 33 16 34
  • 81.53 (n)
cow
(Bos Taurus)
Mammalia C11H2orf40 33 34
  • 80.95 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf40 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf40 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H2ORF40 33
  • 73.81 (n)
C2orf40 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf40 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf40 33
  • 70.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia ecrg4-A 33
zebrafish
(Danio rerio)
Actinopterygii ecrg4a 33
  • 59.13 (n)
C9H2orf40 (1 of 2) 34
  • 47 (a)
OneToMany
C6H2orf40 (2 of 2) 34
  • 42 (a)
OneToMany
Species where no ortholog for C2orf40 was found in the sources mined by GeneCards:
  • 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
rs1000145015 -- 106,067,632(+) GCCCA(C/G)CTAAG intron-variant
rs1000176925 -- 106,067,232(+) GATTG(C/T)GGCGA intron-variant
rs1000226135 -- 106,072,871(+) TTGTC(A/C)TAGGT intron-variant
rs1000557381 -- 106,071,612(+) TCAAA(C/T)AGTAA intron-variant
rs1000568952 -- 106,078,392(+) AGAAC(A/G)TGGAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for C2orf40 Gene

Variant ID Type Subtype PubMed ID
nsv1114123 CNV deletion 24896259

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)

Relevant External Links for C2orf40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 CM … Lu SH (World journal of gastroenterology 2003) 2 3 22 60
  2. Identification of novel peptide hormones in the human proteome by hidden Markov model screening. (PMID: 17284679) Mirabeau O … Gross C (Genome research 2007) 3 4 60
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60

Products for C2orf40 Gene

Sources for C2orf40 Gene

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