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

C9orf3 Gene

protein-coding   GIFtS: 48
GCID: GC09P097488

Chromosome 9 Open Reading Frame 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 9 Open Reading Frame 31 2     AOPEP2
Aminopeptidase O1 2     APO2
AP-O2 3     C90RF32
ONPEP2 3     EC 3.4.11.-3

External Ids:    HGNC: 13611   Entrez Gene: 849092   Ensembl: ENSG000001481207   UniProtKB: Q8N6M63   

Export aliases for C9orf3 gene to outside databases

Previous GC identifers: GC09U990106 GC09P092831 GC09P094568 GC09P096528


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

Entrez Gene summary for C9orf3 Gene:
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent
metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide.
This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple
transcript variants. (provided by RefSeq, Oct 2010)

GeneCards Summary for C9orf3 Gene: 
C9orf3 (chromosome 9 open reading frame 3) is a protein-coding gene. Diseases associated with C9orf3 include newborn respiratory distress syndrome, and root resorption. GO annotations related to this gene include aminopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is LTA4H.

UniProtKB/Swiss-Prot: AMPO_HUMAN, Q8N6M6
Function: Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein
substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the
renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the
proteolytic processing of bioactive peptides in tissues such as testis and heart




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf3 gene promoter:
         HNF-4alpha2   HNF-4alpha1   Pax-3   PPAR-gamma1   POU2F1   POU2F1a   HFH-1   Zic3   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C9orf3 promoter sequence
   Search SABiosciences Chromatin IP Primers for C9orf3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf3


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

Entrez Gene cytogenetic band: 9q22.32   Ensembl cytogenetic band:  9q22.32   HGNC cytogenetic band: 9q22

C9orf3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P097488:  view genomic region     (about GC identifiers)

Start:
97,488,951 bp from pter      End:
97,849,500 bp from pter
Size:
360,550 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AMPO_HUMAN, Q8N6M6 (See protein sequence)
Recommended Name: Aminopeptidase O  
Size: 819 amino acids; 93572 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Cytoplasm (Potential)
Sequence caution: Sequence=AAH20194.1; Type=Erroneous initiation; Sequence=BAB55210.1; Type=Erroneous initiation;
Secondary accessions: Q5T9B1 Q5T9B3 Q5T9B4 Q8WUL6 Q96M23 Q96SS1
Alternative splicing: 4 isoforms:  Q8N6M6-1   Q8N6M6-2   Q8N6M6-3   Q8N6M6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C9orf3: NX_Q8N6M6

Explore proteomics data for C9orf3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N6M6

  • C9orf3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C9orf3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001180258.1  NP_001180260.1  NP_116212.3  

    ENSEMBL proteins: 
     ENSP00000277198   ENSP00000297979   ENSP00000387736   ENSP00000402171   ENSP00000401854  
     ENSP00000411451   ENSP00000413927   ENSP00000431923   ENSP00000364464   ENSP00000378763  
     ENSP00000411815   ENSP00000399365  

    Human Recombinant Protein Products for C9orf3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for C9orf3
    OriGene Protein Over-expression Lysate for C9orf3
    OriGene MassSpec for C9orf3 
    OriGene Custom Protein Services for C9orf3
    GenScript Custom Purified and Recombinant Proteins Services for C9orf3
    Novus Biologicals C9orf3 Protein
    Novus Biologicals C9orf3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    C9orf3 for ontologies           About GeneDecksing



    C9orf3 Antibody Products: 
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    Novus Biologicals C9orf3 Antibodies
    Search for Antibodies for C9orf3 at Abcam
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    LSBio Antibodies in human, mouse, rat for C9orf3 

    Assay Products for C9orf3: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Aminopeptidase O 
    Aminopeptidases

    4 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR001930 Peptidase_M1
     IPR015211 Peptidase_M1_C
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q8N6M6

    ProtoNet protein and cluster: Q8N6M6

    1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

    UniProtKB/Swiss-Prot: AMPO_HUMAN, Q8N6M6
    Similarity: Belongs to the peptidase M1 family


    C9orf3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMPO_HUMAN, Q8N6M6
    Function: Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein
    substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the
    renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the
    proteolytic processing of bioactive peptides in tissues such as testis and heart
    Enzyme regulation: Strongly inhibited by ophenanthroline, a metalloprotease inhibitor. Inhibited by arphamenine A,
    a potent inhibitor of aminopeptidases. Not affected by AEBSF and E-64, which are common inhibitors of serine- and
    cysteine-proteases, respectively
    Biophysicochemical properties: Kinetic parameters: KM=6 uM for Arg-AMC;

         Enzyme Number (IUBMB): EC 3.4.11.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IDA15687497
    GO:0005488binding ----
    GO:0008237metallopeptidase activity IDA15687497
    GO:0008270zinc ion binding IEA--
         
    C9orf3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C9orf3:
     Increased G2M DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for 2010111I01Rik):
     normal 

    C9orf3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C9orf3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C9orf3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C9orf3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C9orf3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C9orf3
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate C9orf3 (see all 16):
    hsa-miR-330-5p hsa-miR-650 hsa-miR-641 hsa-miR-186 hsa-miR-326 hsa-miR-1827 hsa-miR-3612 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidC9orf3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of C9orf3

    Clone
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    OriGene clones in human, mouse for C9orf3 (see all 12)
    OriGene ORF clones in mouse, rat for C9orf3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for C9orf3
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C9orf3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf3
    Sirion Biotech Customized lentivirus for stable overexpression of C9orf3 
                         Customized lentivirus expression plasmids for stable overexpression of C9orf3 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for C9orf3
    Search LifeMap BioReagents cell lines for C9orf3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C9orf3

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

    1 Interacting protein for C9orf3 (ENSP000002979794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUN2ENSP000002160644STRING: ENSP00000216064
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA15687497
    GO:0019370leukotriene biosynthetic process IEA--

    C9orf3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    C9orf3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C9orf3 (AMPO)

    1 Novoseek inferred chemical compound relationship for C9orf3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0.78 1 1331470 (1)

    Search CenterWatch for drugs/clinical trials and news about C9orf3 / AMPO

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C9orf3 gene (4 alternative transcripts): 
    NM_001193329.1  NM_001193331.2  NM_032823.5  NM_001193330.1  

    Unigene Cluster for C9orf3:

    Chromosome 9 open reading frame 3
    Hs.434253  [show with all ESTs]
    Unigene Representative Sequence: NM_001193331
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000277198(uc011lui.2) ENST00000297979(uc004auz.1 uc004auy.3)
    ENST00000427193 ENST00000489318 ENST00000424143 ENST00000428313 ENST00000488186
    ENST00000473778(uc004aux.2 uc004avb.2) ENST00000462125 ENST00000479161
    ENST00000451893 ENST00000460573 ENST00000478603 ENST00000471978 ENST00000445181
    ENST00000478473 ENST00000496567 ENST00000463372
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C9orf3
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate C9orf3 (see all 16):
    hsa-miR-330-5p hsa-miR-650 hsa-miR-641 hsa-miR-186 hsa-miR-326 hsa-miR-1827 hsa-miR-3612 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidC9orf3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C9orf3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9orf3
    Clone
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    OriGene clones in human, mouse for C9orf3 (see all 12)
    OriGene ORF clones in mouse, rat for C9orf3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for C9orf3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C9orf3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf3
    Sirion Biotech Customized lentivirus for stable overexpression of C9orf3 
                         Customized lentivirus expression plasmids for stable overexpression of C9orf3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C9orf3
    OriGene qSTAR qPCR primer pairs in human, mouse for C9orf3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C9orf3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf3

    Additional mRNA sequence: 

    AJ560639.1 AK027581.1 AK057450.1 AK098242.1 AK300486.1 AL137535.1 BC020194.1 BC029616.1 
    BX648970.1 XR_108980.3 XR_113239.3 XR_171798.1 

    24/37 DOTS entries (see all 37):

    DT.40248026  DT.100756509  DT.100027770  DT.416755  DT.121205361  DT.311933  DT.86843432  DT.40297749 
    DT.100756511  DT.121205280  DT.40257308  DT.100756507  DT.40189138  DT.435162  DT.92031635  DT.97845123 
    DT.95189992  DT.110871  DT.86839700  DT.100840792  DT.110872  DT.121205441  DT.100845153  DT.121205306 

    24/314 AceView cDNA sequences (see all 314):

    BU163159 BI962509 AA604453 BM980567 BF195748 BX099259 AK025151 BU838628 
    T11456 BQ575638 AA873569 BC020194 NM_032823 BQ674833 AW148709 CR609086 
    AI538141 BQ673028 BM827303 BU621588 BC029616 BM126351 AA243805 CR592311 

    GeneLoc Exon Structure

    5/28 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf3 (see all 28)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                                                  -           -     -     -     -     -     -                 -     -     -                                 
    SP2:              -                                   -           -     -     -     -     -     -     -     -     -     -     -                                 
    SP3:                                                                                -     -     -                 -     -     -                                 
    SP4:                                                  -           -     -     -     -     -     -     -     -     -     -     -                                 
    SP5:                                                                                                        -     -     -     -                                 

    ExUns: 21a · 21b · 21c · 21d · 21e ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d · 27e · 27f ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b ·
    SP1:  -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -           -     -               
    SP2:  -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -           -     -               
    SP3:  -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -           -     -               
    SP4:  -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -           -     -               
    SP5:  -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -           -     -               

    ExUns: 32c ^ 33 ^ 34a · 34b · 34c · 34d ^ 35 ^ 36a · 36b · 36c · 36d · 36e
    SP1:  -     -                       -     -                                 
    SP2:  -     -                       -     -                                 
    SP3:  -     -                       -     -                                 
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for C9orf3

    (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

    C9orf3 expression in normal human tissues (normalized intensities)      C9orf3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGATGCG
    C9orf3 Expression
    About this image


    C9orf3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow

    See C9orf3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9orf3

    SOURCE GeneReport for Unigene cluster: Hs.434253

    UniProtKB/Swiss-Prot: AMPO_HUMAN, Q8N6M6
    Tissue specificity: Predominantly expressed in pancreas, placenta, liver, testis and heart. Expressed at lower
    level in brain, lung and kidney

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    (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 animals and fungi.

    Orthologs for C9orf3 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2010111I01Rik1 , 5 RIKEN cDNA 2010111I01 gene1, 5 82.27(n)1
    76.89(a)1
      13 (32.80 cM)5
    720611  NM_028079.21  NP_082355.11 
     632821425 
    chicken
    (Gallus gallus)
    Aves CZH9orf31 chromosome Z open reading frame, human C9orf3 72.99(n)
    71.97(a)
      427467  XM_001231897.1  XP_001231898.1 
    lizard
    (Anolis carolinensis)
    Reptilia C9orf36
    chromosome 9 open reading frame 3
    67(a)
    1 ↔ 1
    2(40594746-40842272)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685992 hypothetical protein MGC68599 78.87(n)    BC061666.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1629391 zgc:162939 59.22(n)
    57.62(a)
      560737  NM_001123258.1  NP_001116730.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LAP26
    Leucyl aminopeptidase yscIV (leukotriene A4 hydrol...
    20(a)
    1 → many
    XIV(542963-544978)


    ENSEMBL Gene Tree for C9orf3 (if available)
    TreeFam Gene Tree for C9orf3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C9orf3 gene
    LTA4H2  RNPEPL12  RNPEP2  
    1 SIMAP similar gene for C9orf3 using alignment to 6 protein entries:     B4DKT1_HUMAN (see all proteins):
    AOPEP

    C9orf3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/6671 SNPs in C9orf3 are shown (see all 6671)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1455034191,2
    C--67107936(+) TGGAG-/AATTTT 2 -- int10--------
    rs38407411,2
    C,F--67129594(-) AAAAAA/-GGCAG 3 -- int1 us2k1 trp33Minor allele frequency- -:0.50NA 6
    rs107126861,2
    C,F--67152458(+) TTTAG-/T/TT  
            
    TTTTT
    3 -- int1 trp32NA CSA 4
    rs58992341,2
    C--67192194(+) TTTTTT/-GGGCT 3 -- int11Minor allele frequency- -:0.00NA 2
    rs101256091,2
    C,F,A,H--67199361(+) TATGAA/TTTTAG 3 -- int15Minor allele frequency- T:0.42NA WA 12
    rs112919101,2
    C--67199887(+) TACTG-/TTTTTT 3 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs357607061,2
    C--67210097(+) TTTTT-/TGAGAG 3 -- int11Minor allele frequency- T:0.00NA 2
    rs354211271,2
    C--67217101(+) ATCTT-/AAAAAA 3 -- int10--------
    rs106305861,2
    C--67221278(+) AGATTTTAAA/
            
    TTAAA
    3 -- int11Minor allele frequency- -:0.00CSA 2
    rs112998181,2
    C--67248447(+) TTTTC-/T/TT  
            
    TTTTT
    3 -- int1 trp32NA CSA 4

    HapMap Linkage Disequilibrium report for C9orf3 (97488951 - 97738951 bp, first 250kb of C9orf3)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C9orf3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv274590CNV Insertion20981092
    esv271677CNV Insertion20981092
    nsv831656CNV Loss17160897
    nsv893596CNV Gain21882294
    esv8735CNV Gain19470904
    esv8177CNV Gain19470904

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for C9orf3:    About MalaCards
    newborn respiratory distress syndrome    root resorption    polycystic ovary syndrome    prostate cancer
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for C9orf3:
    Newborn respiratory distress syndrome     Right bundle branch block

    C9orf3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C9orf3
    Human Genome Epidemiology (HuGE) Navigator: C9orf3 (1 document)

    Export disorders for C9orf3 gene to outside databases

    (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 C9orf3 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with C9orf3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human aminopeptidase O, a novel metalloprotease with structural similarity to aminopeptidase B and leukotriene A4 hydrolase. (PubMed id 15687497)1, 2, 3, 9 Diaz-Perales A.... Lopez-Otin C. (2005)
    2. Genome-wide association study to identify single nucl eotide polymorphisms (SNPs) associated with the development of erectile dysfunc tion in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (2010)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Meta-analysis identifies six new susceptibility loci f or atrial fibrillation. (PubMed id 22544366)1 Ellinor P.T....Kaab S. (2012)
    7. Genome-wide association study identifies eight new ris k loci for polycystic ovary syndrome. (PubMed id 22885925)1 Shi Y....Chen Z.J. (2012)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    9. LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins. (PubMed id 22632968)1 Sosa B.A....Schwartz T.U. (2012)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84909 HGNC: 1361 AceView: C9orf3 Ensembl:ENSG00000148120 euGenes: HUgn84909
    ECgene: C9orf3 H-InvDB: C9orf3

    (According to HUGE)
    About This Section
      --

    (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 C9orf3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C9orf3 gene:
    Search GeneIP for patents involving C9orf3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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