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

CANT1 Gene

protein-coding   GIFtS: 61
GCID: GC17M076987

Calcium Activated Nucleotidase 1

  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
Calcium Activated Nucleotidase 11 2     Isozyme 11
Apyrase Homolog2 3     Soluble Ca-Activated Nucleotidase1
Putative MAPK-Activating Protein PM092 3     Ca2+-Dependent Endoplasmic Reticulum Nucleoside Diphosphatase2
Putative NF-Kappa-B-Activating Protein 1072 3     Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And
Advanced Carpotarsal Ossification2
SCAN-12 3     Soluble Ca-Activated Nucleotidase, Isozyme 12
SHAPY2 3     Soluble Calcium-Activated Nucleotidase 12
DBQD2 5     Soluble Calcium-Activated Nucleotidase SCAN-12
SCAN12 5     EC 3.6.1.63

External Ids:    HGNC: 197211   Entrez Gene: 1245832   Ensembl: ENSG000001713027   OMIM: 6131655   UniProtKB: Q8WVQ13   

Export aliases for CANT1 gene to outside databases

Previous GC identifers: GC17M074500 GC17M072408


(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 CANT1 Gene:
This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase
with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies.
Alternatively spliced transcript variants have been noted for this gene.(provided by RefSeq, Mar 2010)

GeneCards Summary for CANT1 Gene: 
CANT1 (calcium activated nucleotidase 1) is a protein-coding gene. Diseases associated with CANT1 include desbuquois syndrome, and spondylosis, and among its related super-pathways are Pyrimidine metabolism and TNF Signaling. GO annotations related to this gene include uridine-diphosphatase activity and calcium ion binding.

UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
Function: Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different
substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does
not hydrolyze AMP and GMP. Involved in proteoglycan synthesis

Gene Wiki entry for CANT1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CANT1 gene promoter:
         AhR   STAT1   Sp1   POU3F2   PPAR-alpha   FAC1   POU2F1   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CANT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CANT1


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

CANT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CANT1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M076987:  view genomic region     (about GC identifiers)

Start:
76,987,798 bp from pter      End:
77,005,949 bp from pter
Size:
18,152 bases      Orientation:
minus 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: CANT1_HUMAN, Q8WVQ1 (See protein sequence)
Recommended Name: Soluble calcium-activated nucleotidase 1  
Size: 401 amino acids; 44840 Da
Cofactor: Calcium
Subunit: Monomer
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus, Golgi
stack membrane; Single-pass type II membrane protein. Note=Processed form: Secreted
Miscellaneous: Not inhibited by azide
Sequence caution: Sequence=AAM94564.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for CANT1:
1S18 (3D)        1S1D (3D)        2H2N (3D)        2H2U (3D)    
Secondary accessions: Q7Z2J7 Q8NG05 Q8NHP0 Q9BSD5
Alternative splicing: 2 isoforms:  Q8WVQ1-1   Q8WVQ1-2   

Explore the universe of human proteins at neXtProt for CANT1: NX_Q8WVQ1

Explore proteomics data for CANT1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WVQ1

  • CANT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CANT1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001153244.1  NP_001153245.1  NP_620148.1  

    ENSEMBL proteins: 
     ENSP00000376241   ENSP00000307674   ENSP00000466743   ENSP00000467437   ENSP00000465816  
     ENSP00000465769   ENSP00000466637   ENSP00000467970   ENSP00000467886   ENSP00000464841  
     ENSP00000467777  

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    Sino Biological Recombinant Protein for CANT1
    Sino Biological Cell Lysate for CANT1 
    ProSpec Recombinant Protein for CANT1
    Cloud-Clone Corp. Proteins for CANT1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    CANT1 for ontologies           About GeneDecksing



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    Assay Products for CANT1: 
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    Cloud-Clone Corp. ELISAs for CANT1 
    Cloud-Clone Corp. CLIAs for CANT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR009283 Apyrase

    Graphical View of Domain Structure for InterPro Entry Q8WVQ1

    ProtoNet protein and cluster: Q8WVQ1

    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
    Similarity: Belongs to the apyrase family


    CANT1 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: CANT1_HUMAN, Q8WVQ1
    Function: Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different
    substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does
    not hydrolyze AMP and GMP. Involved in proteoglycan synthesis
    Catalytic activity: A nucleoside diphosphate + H(2)O = a nucleoside phosphate + phosphate
    Biophysicochemical properties: pH dependence: Optimum pH is 6.8;

         Enzyme Number (IUBMB): EC 3.6.1.61

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005509calcium ion binding IEA--
    GO:0016462pyrophosphatase activity ----
    GO:0045134uridine-diphosphatase activity IEA--
         
    CANT1 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidCANT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    (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

    SuperPaths for CANT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Purine metabolism
    Purine metabolism0.38
    Pyrimidine metabolism0.38
    2TNF Signaling
    NF-kB (NFkB) Pathway0.46
    3UTP and CTP dephosphorylation II
    UTP and CTP dephosphorylation II0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CANT1
        UTP and CTP dephosphorylation II

    1 Sino Biological Pathway for CANT1 
        NF-kB (NFkB) Pathway


    2         Kegg Pathways  (Kegg details for CANT1):
        Purine metabolism
    Pyrimidine metabolism


    CANT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CANT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/69 Interacting proteins for CANT1 (Q8WVQ13 ENSP000003076744) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASNA1O436813I2D: score=5 
    EIF3MQ7L2H73I2D: score=5 
    SGTAO437653I2D: score=5 
    ADSSENSP000003554934STRING: ENSP00000355493
    ATICENSP000002369594STRING: ENSP00000236959
    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:0007165signal transduction IMP12761501
    GO:0030166proteoglycan biosynthetic process IMP--
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascade IMP12761501

    CANT1 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

    CANT1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CANT1

    10/22 HMDB Compounds for CANT1 (see all 22)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Thymidylic acid2'-Deoxythymidine 5'-monophosphate (see all 28)365-07-1--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CDPCDP (see all 3)63-38-7--
    CalciumCa (see all 2)7440-70-2--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--

    2 DrugBank Compounds for CANT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphomethylphosphonic Acid Guanosyl Ester-- --target--17139284 17016423
    Tris(Hydroxymethyl)Aminomethane-- --target--17139284 17016423

    10/81 Novoseek inferred chemical compound relationships for CANT1 gene (see all 81)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adp 85.7 113 15731382 (4), 16702045 (3), 9157599 (2), 10590060 (2) (see all 77)
    suramin 81.3 36 17825906 (4), 16924659 (3), 10362642 (2), 12244041 (2) (see all 27)
    atp 80.3 163 12457710 (3), 15619668 (2), 18243311 (2), 12464620 (2) (see all 99)
    mrs2179 74.8 1 14691052 (1)
    grgds 72.4 1 8645315 (1)
    adpbetas 68.7 2 12686569 (1), 11019976 (1)
    thromboxane a2 67.3 11 2317202 (1), 8443865 (1), 15823546 (1), 8972712 (1) (see all 8)
    ppads 67.1 4 19225107 (1), 12244041 (1), 12526886 (1)
    diphosphates 65.5 2 9804829 (1), 12457710 (1)
    fibrinogen 65 4 10515289 (1), 20351782 (1), 8236145 (1), 11721406 (1)

    Search CenterWatch for drugs/clinical trials and news about CANT1

    (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 CANT1 gene (3 alternative transcripts): 
    NM_001159772.1  NM_001159773.1  NM_138793.3  

    Unigene Cluster for CANT1:

    Calcium activated nucleotidase 1
    Hs.8859  [show with all ESTs]
    Unigene Representative Sequence: NM_138793
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392446(uc002jwn.3 uc002jwk.3 uc002jwl.2) ENST00000302345(uc002jwj.3)
    ENST00000592228 ENST00000591773 ENST00000588096 ENST00000588611 ENST00000588075
    ENST00000590370 ENST00000586916 ENST00000592033 ENST00000591811 ENST00000591625
    ENST00000592887 ENST00000587242 ENST00000591732
    miRNA
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    Additional mRNA sequence: 

    AB097006.1 AB097033.1 AF328554.2 AJ312208.1 AK026161.1 AK074687.1 AK295930.1 BC005104.1 
    BC017655.1 BC065038.1 BC118563.1 

    18 DOTS entries:

    DT.448256  DT.100832891  DT.102832522  DT.100037573  DT.91680526  DT.40209357  DT.100832896  DT.120936232 
    DT.95150245  DT.100037585  DT.100832894  DT.120936246  DT.120936235  DT.120936251  DT.95088346  DT.95150247 
    DT.120936245  DT.91703418 

    24/344 AceView cDNA sequences (see all 344):

    BQ218520 AA337541 AB097033 BC017655 AI498051 CA944782 BU948055 AA406562 
    BC005104 BP358983 AA809882 AI564499 NM_138793 BP364792 BP366262 BM835172 
    CF125047 BU681222 BU177390 CB139129 BM783293 AI660916 BU501948 CR601688 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CANT1 (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10 ^
    SP1:                                            -     -     -     -     -     -                             -                                                   
    SP2:                                                  -     -                                                                                                   
    SP3:                                            -     -     -                       -     -                 -                                                   
    SP4:                                            -     -     -                                                                                                   
    SP5:                                            -     -     -     -     -                                   -                                                   

    ExUns: 11 ^ 12
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CANT1

    (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

    CANT1 expression in normal human tissues (normalized intensities)      CANT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGCACCTG
    CANT1 Expression
    About this image


    CANT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
             colonic mucosal (ibs)   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             ileum   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   

    See CANT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CANT1

    SOURCE GeneReport for Unigene cluster: Hs.8859

    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
    Tissue specificity: Widely expressed

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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.

    Orthologs for CANT1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cant11 , 5 calcium activated nucleotidase 11, 5 85.12(n)1
    87.78(a)1
      11 (83.15 cM)5
    760251  NM_029502.31  NP_083778.21 
     1184062895 
    chicken
    (Gallus gallus)
    Aves CANT16
    soluble calcium-activated nucleotidase 1
    67(a)
    1 ↔ 1
    18(10034762-10038434)
    lizard
    (Anolis carolinensis)
    Reptilia CANT16
    Uncharacterized protein
    74(a)
    1 ↔ 1
    2(101703716-101716238)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526932 similar to Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase less 75.43(n)    BC041215.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570532022   -- 72.55(n)    57053202 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52761 CG5276 58.2(n)
    55.24(a)
      41373  NM_141817.3  NP_650074.1 
    worm
    (Caenorhabditis elegans)
    Secernentea apy-11 Protein APY-1 52.27(n)
    51.36(a)
      181019  NM_076882.5  NP_509283.1 


    ENSEMBL Gene Tree for CANT1 (if available)
    TreeFam Gene Tree for CANT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CANT1 gene

    CANT1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CANT1
    PGOHUM00000243510


    (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

    10/561 SNPs in CANT1 are shown (see all 561)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0686564
    Desbuquois dysplasia (DBQD)4--see VAR_0686562 W C mis40--------
    VAR_0686604
    Desbuquois dysplasia (DBQD)4--see VAR_0686602 S R mis40--------
    VAR_0629814
    Desbuquois dysplasia (DBQD)4--see VAR_0629812 R C mis40--------
    VAR_0686594
    Desbuquois dysplasia (DBQD)4--see VAR_0686592 V M mis40--------
    VAR_0629824
    Desbuquois dysplasia (DBQD)4--see VAR_0629822 R H mis40--------
    VAR_0686634
    Desbuquois dysplasia (DBQD)4--see VAR_0686632 I N mis40--------
    VAR_0686554
    Desbuquois dysplasia (DBQD)4--see VAR_0686552 D E mis40--------
    VAR_0686624
    Desbuquois dysplasia (DBQD)4--see VAR_0686622 A D mis40--------
    VAR_0629804
    Desbuquois dysplasia (DBQD)4--see VAR_0629802 P L mis40--------
    VAR_0686574
    Desbuquois dysplasia (DBQD)4--see VAR_0686572 M T mis40--------

    HapMap Linkage Disequilibrium report for CANT1 (76987798 - 77005949 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CANT1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716322CNV Deletion23290073
    esv2716323CNV Deletion23290073
    esv2716324CNV Deletion23290073
    nsv908903CNV Loss21882294
    dgv3284n71CNV Loss21882294
    nsv908900CNV Loss21882294
    dgv3283n71CNV Loss21882294
    dgv3285n71CNV Loss21882294
    nsv523650CNV Loss19592680
    nsv470610CNV Loss18288195


    Human Gene Mutation Database (HGMD): CANT1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613165   
    OMIM disorders: 251450  
    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
  • Desbuquois dysplasia (DBQD) [MIM:251450]: A chondrodysplasia characterized by severe prenatal and
    postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round
    face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with
    metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal
    and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence (type 1) or
    absence (type 2) of characteristic hand anomalies: an extra ossification center distal to the second metacarpal,
    delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/34 diseases for CANT1 (see all 34):    About MalaCards
    desbuquois syndrome    spondylosis    dwarfism    diastrophic dysplasia
    cerebral infarction    phenylketonuria    neuroepithelioma    scoliosis
    chondrodysplasia    chagas disease    thrombosis    prostate adenocarcinoma
    pertussis    colon adenocarcinoma    vascular disease    meningitis
    hypercholesterolemia    thyroid cancer    cerebritis    cystic fibrosis

    1 disease from the University of Copenhagen DISEASES database for CANT1:
    Diastrophic dysplasia

    CANT1 for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for CANT1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    platelet aggregation, spontaneous 73.2 1 17139373 (1)
    hemolysis 15.3 3 16543719 (1)
    chagas disease 12.3 2 18598576 (1), 15475299 (1)
    breast cancer 5.24 1 15949710 (1)
    necrosis 3.63 1 15129165 (1)
    thrombosis 1.43 2 20473398 (1), 16702045 (1)
    stroke 0 1 11770867 (1)
    bleeding 0 1 11770867 (1)
    shock 0 1 9890913 (1)
    cerebral infarction 0 1 11770867 (1)

    Genetic Association Database (GAD): CANT1
    Human Genome Epidemiology (HuGE) Navigator: CANT1 (1 document)

    Export disorders for CANT1 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 CANT1 gene, integrated from 9 sources (see all 301):
    (articles sorted by number of sources associating them with CANT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and functional characterization of a Ca2+- dependent endoplasmic reticulum nucleoside diphosphatase. (PubMed id 12167635)1, 2, 3 Failer B.U.... Zimmermann H. (2002)
    2. Identification of CANT1 mutations in Desbuquois dysplasia. (PubMed id 19853239)1, 2, 9 Huber C.... Cormier-Daire V. (2009)
    3. Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change. (PubMed id 15248776)1, 2, 9 Yang M. and Kirley T.L. (2004)
    4. Structure and protein design of a human platelet function inhibitor. (PubMed id 15006348)1, 2, 9 Dai J.... Lu M. (2004)
    5. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. (PubMed id 22539336)1, 2 Nizon M.... Cormier-Daire V. (2012)
    6. A founder mutation of CANT1 common in Korean and Japa nese Desbuquois dysplasia. (PubMed id 21412251)1, 2 Dai J....Ikegawa S. (2011)
    7. CANT1 mutation is also responsible for Desbuquois dys plasia, type 2 and Kim variant. (PubMed id 21037275)1, 2 Furuichi T....Ikegawa S. (2011)
    8. Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. (PubMed id 21654728)1, 2 Laccone F....Rehder H. (2011)
    9. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 124583 HGNC: 19721 AceView: ENTPD8 Ensembl:ENSG00000171302 euGenes: HUgn124583
    ECgene: CANT1 Kegg: 124583 H-InvDB: CANT1

    (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 CANT1 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 CANT1 gene:
    Search GeneIP for patents involving CANT1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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