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

CANT1 Gene

protein-coding   GIFtS: 57
GCID: GC17M076987

calcium activated nucleotidase 1
 Explore 37 diseases affiliated with
CANT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CANT1    

Aliases
for CANT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Calcium Activated Nucleotidase 11 2     SCAN12 5
SCAN-11 2 3     Ca2+-Dependent Endoplasmic Reticulum Nucleoside Diphosphatase2
SHAPY1 2 3     Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced
Carpotarsal Ossification2
Apyrase Homolog2 3     Soluble Ca-Activated Nucleotidase, Isozyme 12
Putative MAPK-Activating Protein PM092 3     Soluble Calcium-Activated Nucleotidase 12
Putative NF-Kappa-B-Activating Protein 1072 3     Soluble Calcium-Activated Nucleotidase SCAN-12
DBQD2 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


Summaries
for CANT1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
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

Proteins
for CANT1 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: 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

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WVQ1

    • CANT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    ProSpec Recombinant Protein for CANT1
    Uscn 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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    Uscn ELISAs and CLIAs for CANT1

    Protein Domains /
    Families
    for CANT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CANT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for CANT1 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: 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 nucleotide + phosphate
    Biophysicochemical properties: pH dependence: Optimum pH is 6.8;

    Enzyme Number (IUBMB): EC 3.6.1.61

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate CANT1 (see all 28):
    hsa-miR-4265 hsa-let-7d hsa-miR-202 hsa-miR-106a hsa-let-7c hsa-miR-519a hsa-let-7g hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmid: CANT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 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:0045134uridine-diphosphatase activity IEA--


    CANT1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for CANT1 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Purine metabolism
    		Purine metabolism1.00
    		Pyrimidine metabolism0.38
    2pyrimidine ribonucleotides interconversion
    		pyrimidine ribonucleotides interconversion1.00
    		pyrimidine ribonucleotides de novo biosynthesis0.88

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for CANT1 
        pyrimidine ribonucleotides de novo biosynthesis
    pyrimidine ribonucleotides interconversion


    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



    Drugs & Compounds
    for CANT1 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

    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 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 

    Transcripts
    for CANT1 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,
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    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 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
    16 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 ENST00000587102 ENST00000587242 ENST00000591732

    miRNA
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    hsa-miR-4265 hsa-let-7d hsa-miR-202 hsa-miR-106a hsa-let-7c hsa-miR-519a hsa-let-7g hsa-miR-3161
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    Inhib. RNA
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    Additional cDNA 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):

    AW169734 AI307129 BU553933 BU854883 BQ014840 BM759661 CB148800 BQ231108 
    AJ312208 CA944782 BQ957558 AI564499 BP358983 BQ071189 CB130108 BU177390 
    BQ961974 AI277114 CD368272 BC005104 AK026161 CB146669 AA348004 BM931321 

    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

    Expression
    for CANT1 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

    CANT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGCACCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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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    In Situ
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    Orthologs
    for CANT1 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 animals.

    Orthologs for CANT1 gene from 7/23 species (see all 23)    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
    		 calcium activated nucleotidase 1
    		 70(a)
    		 1 ↔ 1
    		 18(9721792-9723039)
    lizard
    (Anolis carolinensis)    		 Reptilia CANT16
    		 --
    		 74(a)
    		 1 ↔ 1
    		 2(101712167-101714974)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC526932 similar to Ca2+-dependent endoplasmic reticulum nucleoside more 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
    for CANT1 gene

    (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


    Genomic Variants
    for CANT1 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

    10/424 NCBI SNPs in CANT1 are shown (see all 424)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1130098391,2
    		C,--76987446(+) GCGCGT/AACCCA 3 -- ds50011Minor allele frequency- A:0.50NA 2
    rs799858381,2
    		F,--76987552(+) CCTAAG/AGACAT 3 -- ds50013Minor allele frequency- A:0.03WA NA EA 358
    rs1413694941,2
    		--76987619(+) TTCTGA/CCCACA 3 -- ds50010--------
    rs37441681,2
    		C,F,H,--76987763(-) TTTGCA/GGAGGC 3 -- ds500129Minor allele frequency- G:0.49EA NA NS WA CSA 4384
    rs1892953471,2
    		--76987781(+) CACAGA/CCCGGG 3 -- ds50010--------
    rs1925462631,2
    		--76987838(+) GATGGA/CTCCCA 3 -- ut310--------
    rs1841715341,2
    		--76987900(+) AAAAAA/GGGTGA 3 -- ut310--------
    rs739993571,2
    		C,--76988156(+) ATGCCC/TGGTGA 3 -- ut311Minor allele frequency- T:0.50WA 2
    rs48611,2
    		C,F,A,H,--76988192(-) ACGCTG/AAATGT 3 -- ut31 ese327Minor allele frequency- A:0.17MN NS EA NA WA CSA 2840
    rs1903189271,2
    		--76988220(+) TCCACC/TACCTA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for CANT1 (76987798 - 77005949 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CANT1
         2 CNVs: 73045 30028
    Human Gene Mutation Database (HGMD): CANT1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CANT1
    DNA2.0 Custom Variant and Variant Library Synthesis for CANT1

    Disorders / Diseases
    for CANT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CANT1 for disorders           About GeneDecksing

    OMIM gene information: 613165   
    OMIM disorders: 251450  
    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
  • Defects in CANT1 are the cause of 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

    20/37 diseases for CANT1 (see all 37):    About MalaCards
    dwarfism    diastrophic dysplasia    spondylosis    cerebral infarction
    myeloproliferative disorder    neuroepithelioma    phenylketonuria    cystic fibrosis
    chondrodysplasia    thrombosis    scoliosis    emphysema
    vascular disease    colon adenocarcinoma    cerebritis    hypercholesterolemia
    breast cancer    meningitis    prostate adenocarcinoma    fibrosis

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

    10/11 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CANT1 (1 document)

    Export disorders for CANT1 gene to outside databases

    Publications
    for CANT1 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 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    External Searches for CANT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing CANT1 gene

    (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

    Other Databases showing CANT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CANT1 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 CANT1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CANT1 gene

    (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:
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