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C9orf3 Gene

protein-coding   GIFtS: 50
GCID: GC09P097488

Chromosome 9 Open Reading Frame 3

  See C9orf3-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)
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Aliases
Chromosome 9 Open Reading Frame 31 2     C90RF32
Aminopeptidase O1 2     EC 3.4.11.-3
AP-O2 3     C9orf1015
ONPEP2 3     C9orf395
AOPEP2     CNTLN5
APO2     

External Ids:    HGNC: 13611   Entrez Gene: 849092   Ensembl: ENSG000001481207   OMIM: 6118705   UniProtKB: Q8N6M63   

Export aliases for C9orf3 gene to outside databases

Previous GC identifers: GC09U990106 GC09P092831 GC09P094568 GC09P096528


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 right bundle branch block, and newborn respiratory distress syndrome. GO annotations related to this gene include metallopeptidase activity and aminopeptidase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for C9orf3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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


See C9orf3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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  

C9orf3 Human Recombinant Protein Products:

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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.

 
Search eBioscience for Proteins for C9orf3 

C9orf3 Antibody Products:

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Search for Antibodies for C9orf3 at Abcam
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LSBio Antibodies in human, mouse, rat for C9orf3

C9orf3 Assay Products:

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Search eBioscience for ELISAs for C9orf3 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with C9orf3           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004177aminopeptidase activity IDA15687497
GO:0005488binding ----
GO:0008237metallopeptidase activity IDA15687497
GO:0008270zinc ion binding IEA--
     
Find genes that share ontologies with C9orf3           About GenesLikeMe


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

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

Find genes that share phenotypes with C9orf3           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C9orf3
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miRNA
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miRTarBase miRNAs that target C9orf3:
hsa-mir-26b-5p (MIRT029145), hsa-mir-10a-5p (MIRT047533)

Block miRNA regulation of human, mouse, rat C9orf3 using miScript Target Protectors
Selected qRT-PCR 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
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Predesigned siRNA for gene silencing in human, mouse, rat C9orf3

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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf3


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AMPO_HUMAN, Q8N6M6: Cytoplasm (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005730nucleolus IEA--
GO:0005737cytoplasm IEA--

Find genes that share ontologies with C9orf3           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C9orf3
Interactions:

    Search GeneGlobe Interaction Network for C9orf3

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

Selected Interacting proteins for C9orf3 (ENSP000002979794) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
SUN2ENSP000002160644STRING: ENSP00000216064
ME1ENSP000003587194STRING: ENSP00000358719
ME2ENSP000003210704STRING: ENSP00000321070
ME3ENSP000003526574STRING: ENSP00000352657
PFKLENSP000002698484STRING: ENSP00000269848
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Gene Ontology (GO): 2 biological process terms:    About this table

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

Find genes that share ontologies with C9orf3           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



Find genes that share compounds with C9orf3           About GenesLikeMe



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
Selected 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
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Selected qRT-PCR 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:
     
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Predesigned siRNA for gene silencing in human, mouse, rat C9orf3
Clone
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OriGene ORF clones in mouse, rat for C9orf3
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Primer
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OriGene qPCR primer pairs and template standards for C9orf3
OriGene qSTAR qPCR primer pairs in human, mouse for C9orf3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C9orf3
  QuantiTect SYBR Green Assays in human, mouse, rat C9orf3
  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 

Selected 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 

Selected AceView cDNA sequences (see all 314):

BU163159 AL711395 BF969144 AW662567 BI826009 BM783016 BU838628 T11456 
BQ575638 AA873569 BC020194 NM_032823 BQ674833 AW148709 BI962509 AA604453 
BM980567 BF195748 BX099259 AK025151 CR609086 AI538141 BQ673028 BM827303 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C9orf3 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 6) fully expand
 
 Blood (Hematopoietic System)
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
 
 Esophagus (Gastrointestinal Tract)
 
 Gall Bladder (Hepatobiliary System)
 
 Placenta (Extraembryonic Tissues)
 
 Uterus (Reproductive System)
C9orf3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C9orf3 Protein Expression

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

    Custom PCR Arrays for C9orf3
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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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for C9orf3 gene from Selected species (see all 14)    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 72.95(n)
71.73(a)
  427467  XM_001231897.2  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 59.31(n)
57.55(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) YNL045W


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)
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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

Find genes that share paralogs with C9orf3           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C9orf3 (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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C9orf3
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(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.)
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OMIM gene information: 611870    OMIM disorders: --

2 diseases for C9orf3:    
About MalaCards
right bundle branch block    newborn respiratory distress syndrome

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

Find genes that share disorders with C9orf3           About GenesLikeMe

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)
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PubMed articles for C9orf3 gene, integrated from 10 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. (J. Biol. Chem. 2005)
  2. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
  3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 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. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. (PubMed id 22544366)1 Ellinor P.T....KAoAob S. (Nat. Genet. 2012)
  7. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. (PubMed id 22885925)1 Shi Y....Chen Z.J. (Nat. Genet. 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. (PLoS ONE 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. (Cell 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. (Mol. Med. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 84909 HGNC: 1361 AceView: C9orf3 Ensembl:ENSG00000148120 euGenes: HUgn84909
ECgene: C9orf3 H-InvDB: C9orf3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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