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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2orf40 Gene

protein-coding   GIFtS: 44
GCID: GC02P106679

chromosome 2 open reading frame 40
 Explore 7 diseases affiliated with
C2orf40 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C2orf40    

Aliases
for C2orf40 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 2 Open Reading Frame 401 2
ECRG41 2 3 5
Augurin1
Esophageal Cancer-Related Gene 4 Protein2 3
Esophageal Cancer Related Gene 4 Protein2

External Ids:    HGNC: 246421   Entrez Gene: 844172   Ensembl: ENSG000001191477   OMIM: 6117525   UniProtKB: Q9H1Z83   

Export aliases for C2orf40 gene to outside databases

Previous GC identifers: GC02P106048 GC02P100451


Summaries
for C2orf40 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: AUGN_HUMAN, Q9H1Z8
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 (By similarity)




Genomic Views
for C2orf40 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022171.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf40 gene promoter:
         E2F-3a   E2F-4   E2F-5   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   E2F-2   POU3F2   HNF-1A   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C2orf40 promoter sequence
   Search SABiosciences Chromatin IP Primers for C2orf40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf40


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q12.2   Ensembl cytogenetic band:  2q12.2   HGNC cytogenetic band: 2q12.2

C2orf40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf40 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P106679:  view genomic region     (about GC identifiers)

Start:
 106,679,702 bp from pter      End:
 106,694,615 bp from pter
Size:
 14,914 bases      Orientation:
 plus strand

Proteins
for C2orf40 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AUGN_HUMAN, Q9H1Z8 (See protein sequence)
Recommended Name: Augurin precursor  
Size: 148 amino acids; 17183 Da
Subcellular location: Secreted. Cytoplasmic vesicle, secretory vesicle
Secondary accessions: D3DVK2

Explore the universe of human proteins at neXtProt for C2orf40: NX_Q9H1Z8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H1Z8

    • C2orf40 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115787.1  
    ENSEMBL proteins: 
     ENSP00000386421   ENSP00000238044   ENSP00000388664  

    Human Recombinant Protein Products: 
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    Novus Biologicals C2orf40 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C2orf40

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0030133transport vesicle IEA--


    C2orf40 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for C2orf40

    Protein Domains /
    Families
    for C2orf40 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9H1Z8

    UniProtKB/Swiss-Prot: AUGN_HUMAN, Q9H1Z8
    Similarity: Belongs to the augurin family


    Function
    for C2orf40 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AUGN_HUMAN, Q9H1Z8
    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 (By similarity)

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: C2orf40
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf40 (see all 2)
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    Cell Line
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    Search LifeMap BioReagents cell lines for C2orf40

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf40

    Animal Models:
         Mouse knock-out 1500015O10Riktm1Lex for C2orf40
         1 MGI phenotypic allele for 1500015O10Rik (no phenotypes)

    C2orf40 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for C2orf40 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf40

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C2orf40 (ENSP000002380444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53ENSP000002693054STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008054cyclin catabolic process IEA--
    GO:0070314G1 to G0 transition IEA--
    GO:0090398cellular senescence IEA--


    C2orf40 for ontologies           About GeneDecksing



    Drugs & Compounds
    for C2orf40 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C2orf40
    Search CenterWatch for drugs/clinical trials and news about C2orf40 / AUGN 

    Transcripts
    for C2orf40 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C2orf40 gene: 
    NM_032411.2  

    Unigene Cluster for C2orf40:

    Chromosome 2 open reading frame 40
    Hs.43125  [show with all ESTs]
    Unigene Representative Sequence: BQ722016
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493478 ENST00000489174 ENST00000409944 ENST00000238044(uc010fjf.3)
    ENST00000437659 ENST00000479337

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C2orf40
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    SwitchGear 3'UTR luciferase reporter plasmid: C2orf40 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C2orf40 (see all 4)
    OriGene shRNA RFP: C2orf40
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF325503.1 AY358601.1 BC021742.1 

    5 DOTS entries:

    DT.95078761  DT.100816270  DT.100816271  DT.120940508  DT.95157831 

    24/92 AceView cDNA sequences (see all 92):

    BQ182570 CA418648 AI208884 AW294454 AI446209 BQ182775 AI620437 AI401806 
    AW271502 F37508 BG928916 AI422974 BQ183287 BQ181263 AA443800 AI636068 
    BQ017139 AI984927 AI419611 AI671498 BQ181780 AI480082 BQ181838 AA689501 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf40    About this scheme

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


    ECgene alternative splicing isoforms for C2orf40

    Expression
    for C2orf40 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C2orf40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAATGCCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C2orf40 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/13 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 13) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    TestisSeminiferous TubulesSertoli cellsTestis
    BoneRostral Endochondral Facial BonesBone
    BoneRostral Skull Membranous BonesBone
    BoneZeugopod Epiphyseal EndBone
    CartilageCaudal SynchondrosesCartilage
    CartilageChondrocraniumCartilage
    CartilageRostral ChondrocraniumCartilage
    CartilageRostral SynchondrosesCartilage
    CartilageSynchondrosesCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Epiblast-like cells (Reconstitution of mo...)

    See C2orf40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf40

    SOURCE GeneReport for Unigene cluster: Hs.43125
        SABiosciences Custom PCR Arrays for C2orf40
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    In Situ
    Assay Products:     
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    Orthologs
    for C2orf40 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for C2orf40 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 1500015O10Rik1 , 5 RIKEN cDNA 1500015O10 gene1, 5 81.53(n)1
    83.78(a)1    		   1 (23.44 cM)5
    788961  NM_024283.31  NP_077245.21 
     437306025 
    chicken
    (Gallus gallus)    		 Aves C1H2orf401 chromosome 1 open reading frame, human C2orf40 72.43(n)
    67.67(a)    		   771055  XM_001234360.2  XP_001234361.2 
    lizard
    (Anolis carolinensis)    		 Reptilia C2orf406
    		 --
    		 63(a)
    		 1 ↔ 1
    		 3(108516933-108523288)
    African clawed frog
    (Xenopus laevis)    		 Amphibia ecrg4-A2 esophageal cancer related gene 4 protein 74.92(n)    BC044044.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii ecrg4a1 esophageal cancer related gene 4a 54.04(n)
    50.76(a)    		   791762  NM_001017697.1  NP_001017697.1 


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

    Paralogs
    for C2orf40 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for C2orf40 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/342 NCBI SNPs in C2orf40 are shown (see all 342)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1900226571,2
    		--106680176(+) TGGAAC/GTACAG 1 -- us2k10--------
    rs1116653621,2
    		--106680177(+) GGAACC/TACAGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1807751611,2
    		--106680263(+) AAACTA/CCTGAC 1 -- us2k10--------
    rs1484747391,2
    		--106680392(+) ATTTGA/GGGTAA 1 -- us2k10--------
    rs1851952961,2
    		--106680405(+) GGGATG/TATCTC 1 -- us2k10--------
    rs2010859221,2
    		--106680536(+) GCAAA-/AGTAAATA 1 -- us2k10--------
    rs2019984531,2
    		--106680543(+) TAAAT-/ATATGC 1 -- us2k10--------
    rs1469712281,2
    		C,--106680669(+) GGCAG-/TTATCA 1 -- us2k10--------
    rs1425196091,2
    		--106680746(+) ATGTTA/GGAAGA 1 -- us2k10--------
    rs781470731,2
    		C,F,--106680869(+) TGGCTC/TACACC 1 -- us2k12Minor allele frequency- T:0.06WA NA 238

    HapMap Linkage Disequilibrium report for C2orf40 (106679702 - 106694615 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C2orf40: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for C2orf40 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    C2orf40 for disorders           About GeneDecksing

    OMIM gene information: 611752    OMIM disorders: --

    7 diseases for C2orf40:    About MalaCards
    esophageal cancer    esophagitis    esophageal squamous cell carcinoma    squamous cell carcinoma
    esophageal carcinoma    carcinoma    breast cancer

    1 disease from the University of Copenhagen DISEASES database for C2orf40:
    Esophageal cancer

    Export disorders for C2orf40 gene to outside databases

    Publications
    for C2orf40 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C2orf40 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with C2orf40)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of ECRG4, a novel esophageal cancer-related gene, downregulated by CpG island hypermethylation in human esophageal squamous cell carcinoma. (PubMed id 12800218)1, 3, 9 Yue C.M....Lu S.H. (2003)
    2. Identification of novel peptide hormones in the human proteome by hidden Markov model screening. (PubMed id 17284679)1, 2 Mirabeau O.... Gross C. (2007)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Promoter methylation of esophageal cancer-related gene 4 in gastric cancer tissue and its clinical significance. (PubMed id 22626786)1 Wang Y.B. and Ba C.F. (2012)
    7. ECRG4 is a negative regulator of caspase-8-mediated ap optosis in human T-leukemia cells. (PubMed id 22411956)1 Matsuzaki J....Sato N. (2012)
    8. Genome-wide analysis of aberrant DNA methylation for i dentification of potential biomarkers in colorectal cancer patients. (PubMed id 22901147)1 Fang W.J....Zheng S.S. (2012)
    9. Cell-specific processing and release of the hormone-li ke precursor and candidate tumor suppressor gene product, Ecrg4. (PubMed id 22526622)1 Dang X....Baird A. (2012)
    10. [Mechanism of loss of human esophageal cancer-related gene 4 (ECRG4) gene expression in esophageal squamous cell carcinoma cell line E C9706]. (PubMed id 22325214)1 Li L.W....Lu S.X. (2011)

    External Searches for C2orf40 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing C2orf40 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84417 HGNC: 24642 AceView: ECRG4 Ensembl:ENSG00000119147 euGenes: HUgn84417
    ECgene: C2orf40 H-InvDB: C2orf40

    Other Databases showing C2orf40 gene

    (According to HUGE)
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    Specialized Databases showing C2orf40 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C2orf40 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for C2orf40 gene:
    Search GeneIP for patents involving C2orf40

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