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ANKH Gene

protein-coding   GIFtS: 58
GCID: GC05M014706

ANKH Inorganic Pyrophosphate Transport Regulator

(Previous names: ankylosis, progressive (mouse) homolog, craniometaphyseal...)
(Previous symbols: CCAL2, CMDJ)
  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)
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Aliases
ANKH Inorganic Pyrophosphate Transport Regulator1 2     Ankylosis, Progressive Homolog (Mouse)1
CCAL21 2 5     Craniometaphyseal Dysplasia, Jackson Type (Dominant)1
CMDJ1 2 5     MANK2
ANK2 3 5     Ankylosis, Progressive Homolog2
CPPDD2 5     Progressive Ankylosis Protein Homolog2
HANK2 5     KIAA15813
Ankylosis, Progressive (Mouse) Homolog1     

External Ids:    HGNC: 154921   Entrez Gene: 561722   Ensembl: ENSG000001541227   OMIM: 6051455   UniProtKB: Q9HCJ13   

Export aliases for ANKH gene to outside databases

Previous GC identifers: GC05M014695 GC05M014982 GC05M014757 GC05M014761 GC05M014762 GC05M014705


(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 ANKH Gene:
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls
pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been
suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher
animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ANKH Gene:
ANKH (ANKH inorganic pyrophosphate transport regulator) is a protein-coding gene. Diseases associated with ANKH include craniometaphyseal dysplasia, and chondrocalcinosis 2. GO annotations related to this gene include inorganic diphosphate transmembrane transporter activity and inorganic phosphate transmembrane transporter activity.

UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
Function: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi
transporter

Gene Wiki entry for ANKH 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKH gene promoter:
         GR   NF-1   NF-1/L   AML1a   CUTL1   E47   Egr-2   FOXO4   GR-alpha   ATF6   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKH


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

Entrez Gene cytogenetic band: 5p15.1   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15.2

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M014706:  view genomic region     (about GC identifiers)

Start:
14,704,909 bp from pter      End:
14,871,887 bp from pter
Size:
166,979 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1 (See protein sequence)
Recommended Name: Progressive ankylosis protein homolog  
Size: 492 amino acids; 54241 Da
Sequence caution: Sequence=BAB13407.1; Type=Erroneous initiation;
Secondary accessions: B2RCA7 D3DTD4 Q9NQW2

Explore the universe of human proteins at neXtProt for ANKH: NX_Q9HCJ1

Explore proteomics data for ANKH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_473368.1  
    ENSEMBL proteins: 
     ENSP00000284268   ENSP00000426332   ENSP00000442524  

    ANKH Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009887 ANKH

    Graphical View of Domain Structure for InterPro Entry Q9HCJ1

    ProtoNet protein and cluster: Q9HCJ1

    1 Blocks protein domain: IPB009887 Progressive ankylosis

    UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
    Similarity: Belongs to the ANKH family


    ANKH 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANKH_HUMAN, Q9HCJ1
    Function: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi
    transporter

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005315inorganic phosphate transmembrane transporter activity IDA11326272
    GO:0015114phosphate ion transmembrane transporter activity IEA--
    GO:0030504inorganic diphosphate transmembrane transporter activity IDA11326272
         
    ANKH for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ANKH:
     G0/1 arrest  Increased G1 DNA content  Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ank) (see all 17):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  renal/urinary system  reproductive system 

    ANKH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Anktm1.1Kng for ANKH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ANKH

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target ANKH:
    hsa-mir-335-5p (MIRT017494), hsa-mir-92a-3p (MIRT049783)

    Block miRNA regulation of human, mouse, rat ANKH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ANKH (see all 104):
    hsa-miR-548j hsa-miR-3130-5p hsa-miR-3146 hsa-miR-106a hsa-miR-218-1* hsa-miR-219-5p hsa-miR-519a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidANKH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ANKH
    Predesigned siRNA for gene silencing in human, mouse, rat ANKH

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ANKH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ANKH (NM_017747)
    Sino Biological Human cDNA Clone for ANKH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKH

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ANKH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKH


    (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
    ANKH_HUMAN, Q9HCJ1: Membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    endoplasmic reticulum1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ISS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0016021integral component of membrane IDA11326272
    GO:0019867outer membrane TAS11326272

    ANKH for ontologies           About GeneDecksing


    (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 ANKH
    Interactions:

        GeneGlobe Interaction Network for ANKH

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ANKH (ENSP000002842684) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPSAENSP000003460674STRING: ENSP00000346067
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS10894769
    GO:0007626locomotory behavior NAS10894769
    GO:0030500regulation of bone mineralization TAS11326272
    GO:0030505inorganic diphosphate transport IDA11326272
    GO:0035435phosphate ion transmembrane transport ----

    ANKH for ontologies           About GeneDecksing



    (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 ANKH

    1 HMDB Compound for ANKH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    3 Novoseek inferred chemical compound relationships for ANKH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrophosphate 91.2 50 17906411 (3), 16462526 (3), 18034874 (3), 11326338 (2) (see all 26)
    hydroxyapatite 58.9 3 15569637 (1), 16462526 (1)
    calcium 6.7 2 17563703 (1), 18034874 (1)



    ANKH for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANKH gene: 
    NM_054027.4  

    Unigene Cluster for ANKH:

    Ankylosis, progressive homolog (mouse)
    Hs.156727  [show with all ESTs]
    Unigene Representative Sequence: NM_054027
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284268(uc003jfm.4) ENST00000502585 ENST00000503939 ENST00000515517
    ENST00000513115 ENST00000503389 ENST00000505140 ENST00000535119
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ANKH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ANKH (see all 104):
    hsa-miR-548j hsa-miR-3130-5p hsa-miR-3146 hsa-miR-106a hsa-miR-218-1* hsa-miR-219-5p hsa-miR-519a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidANKH 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ANKH
    Predesigned siRNA for gene silencing in human, mouse, rat ANKH
    Clone
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    OriGene clones in human, mouse for ANKH (see all 6)
    OriGene ORF clones in mouse, rat for ANKH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ANKH (NM_017747)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKH
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ANKH
    OriGene qSTAR qPCR primer pairs in human, mouse for ANKH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ANKH
      QuantiTect SYBR Green Assays in human, mouse, rat ANKH
      QuantiFast Probe-based Assays in human, mouse, rat ANKH

    Additional mRNA sequence: 

    AB046801.1 AF274753.1 AK001799.1 AK054966.1 AK130112.1 AK130676.1 AK222631.1 AK315012.1 
    AL833238.1 AY358503.1 BC009835.2 BC014526.2 

    22 DOTS entries:

    DT.95302669  DT.105516  DT.448099  DT.91779733  DT.95302721  DT.97803887  DT.101970914  DT.40210918 
    DT.95302545  DT.209965  DT.40232332  DT.95104406  DT.100645433  DT.100786585  DT.100786586  DT.120815309 
    DT.95250382  DT.100637592  DT.100736158  DT.75188447  DT.91748403  DT.95189296 

    Selected AceView cDNA sequences (see all 378):

    AW242636 BE673046 AI401780 AK130676 BF810455 BE876197 BF056362 BE645695 
    N90069 BU726119 BM546571 AA324612 AA007428 BF592880 BQ899362 AI309218 
    BU618635 AI339471 CB162423 BQ008340 CB158823 BU151082 AA252608 BM142166 

    GeneLoc Exon Structure


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


    ANKH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             superior temporal gyrus   
    ANKH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156727

    UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
    Tissue specificity: Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic
    cells

        Custom PCR Arrays for ANKH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKH

    (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 chordates.

    Orthologs for ANKH gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ank1 , 5 progressive ankylosis1, 5 89.57(n)1
    98.37(a)1
      15 (10.23 cM)5
    117321  NM_020332.41  NP_065065.31 
     274666775 
    chicken
    (Gallus gallus)
    Aves ANKH1 ankylosis, progressive homolog (mouse) 83.4(n)
    95.73(a)
      420917  NM_001012562.1  NP_001012580.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKH6
    ANKH inorganic pyrophosphate transport regulator
    94(a)
    1 ↔ 1
    4(60700273-60923170)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.119732 Xenopus laevis mRNA for progressive ankylosis-like more 77.15(n)    AJ302033.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ankh2 ankylosis, progressive homolog 77.63(n)   323738  AJ302035.1 


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

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

    (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 ANKH (see all 3371)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0121934
    Craniometaphyseal dysplasia, autosomal dominant (CMDD)4--see VAR_0121932 C R mis40--------
    VAR_0226074
    Chondrocalcinosis 2 (CCAL2)4--see VAR_0226072 P T mis40--------
    VAR_0121924
    Craniometaphyseal dysplasia, autosomal dominant (CMDD)4--see VAR_0121922 W R mis40--------
    VAR_0175564
    Chondrocalcinosis 2 (CCAL2)4--see VAR_0175562 M T mis40--------
    VAR_0226064
    Chondrocalcinosis 2 (CCAL2)4--see VAR_0226062 P L mis40--------
    rs585871821,2
    C--14650999(+) AAAAAAA/-GTGAT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1897448241,2
    --14651075(+) ATTGTC/TGGGCT 1 -- ds50010--------
    rs1499723041,2
    C--14651154(+) AGTTGA/GAGAGG 1 -- ds50010--------
    rs2005530901,2
    --14651414(+) AGAAT-/AAAAAA 1 -- ds50010--------
    rs1451954351,2
    C--14651455(+) GTATGC/GCAAGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ANKH (14704909 - 14871887 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ANKH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4728CNV Insertion18451855
    nsv4729CNV Insertion18451855
    esv28799CNV Loss19812545
    nsv830212CNV Loss17160897

    Human Gene Mutation Database (HGMD): ANKH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKH
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKH

    (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.)
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    OMIM gene information: 605145   
    OMIM disorders: 123000  118600  
    UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
  • Chondrocalcinosis 2 (CCAL2) [MIM:118600]: Chondrocalcinosis is a common cause of joint pain and arthritis
    caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in
    synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]: An osteochondrodysplasia
    characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the
    metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve
    compression, that may finally result in hearing loss and facial palsy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for ANKH (see all 29):    About MalaCards
    craniometaphyseal dysplasia    chondrocalcinosis 2    craniometaphyseal dysplasia, autosomal dominant    pseudogout
    ankylosis    facial paralysis    calcinosis    hypophosphatasia
    craniosynostosis, syndromic    craniosynostosis    metaphyseal dysplasia    spondylitis
    arthropathy    hypophosphatemia    ankylosing spondylitis    obesity, association with
    arthritis    osteoarthritis    dilated cardiomyopathy    obesity

    3 diseases from the University of Copenhagen DISEASES database for ANKH:
    Craniometaphyseal dysplasia     Arthropathy     Arthritis

    ANKH for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ANKH gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium pyrophosphate dihydrate deposition disease 94.7 10 13130483 (2), 12297987 (2), 12707589 (2), 15474385 (2) (see all 5)
    chondrocalcinosis 92.5 21 15818664 (8), 12297987 (1), 12744818 (1), 11981328 (1) (see all 8)
    calcium pyrophosphate dihydrate deposition 91.1 2 18034874 (1)
    calcium pyrophosphate dihydrate crystal deposition disease 83.5 4 13130483 (2), 19088867 (1), 12483726 (1)
    arthrodesis 79 21 15601852 (2), 18728347 (2), 10813297 (1), 19419319 (1) (see all 14)
    pseudogout 73.8 1 15818664 (1)
    calcinosis 69.4 1 11326272 (1)
    arthropathy 61.8 4 17563703 (2), 12297987 (1), 9635372 (1)
    calcification 52 10 15023384 (3), 16462526 (3), 15569637 (2)
    osteoarthritis 48.4 7 15023384 (3), 16462526 (1)

    GeneTests: ANKH
    GeneReviews: ANKH
    Genetic Association Database (GAD): ANKH
    Human Genome Epidemiology (HuGE) Navigator: ANKH (12 documents)

    Export disorders for ANKH 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 ANKH gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with ANKH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. (PubMed id 12297989)1, 2, 3, 9 Williams C.J.... Brown M.A. (Am. J. Hum. Genet. 2002)
    2. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. (PubMed id 11326338)1, 2, 3, 9 Reichenberger E....Olsen B.R. (Am. J. Hum. Genet. 2001)
    3. Role of the mouse ank gene in control of tissue calcification and arthritis. (PubMed id 10894769)1, 2, 3 Ho A.M.... Kingsley D.M. (Science 2000)
    4. Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. (PubMed id 15818664)1, 4, 9 Zhang Y....Brown M.A. (Arthritis Rheum. 2005)
    5. Mutations in ANKH cause chondrocalcinosis. (PubMed id 12297987)1, 2, 9 Pendleton A.... Kingsley D.M. (Am. J. Hum. Genet. 2002)
    6. Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. (PubMed id 13130483)1, 2, 9 Williams C.J.... Ryan L.M. (Arthritis Rheum. 2003)
    7. Cuff tear arthropathy: evidence of functional variation in pyrophosphate metabolism genes. (PubMed id 17563703)1, 4, 9 Peach C.A....Carr A.J. (Clin. Orthop. Relat. Res. 2007)
    8. Contribution of the putative genetic factors and ANKH gene polymorphisms to variation of circulating calciotropic molecules, PTH and BGP. (PubMed id 17403715)1, 4, 9 Vistoropsky Y....Livshits G. (Hum. Mol. Genet. 2007)
    9. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. (PubMed id 11326272)1, 2, 9 Nuernberg P.... Tinschert S. (Nat. Genet. 2001)
    10. Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study. (PubMed id 19888898)1, 4 Cheung C.L....Karasik D. (J. Bone Miner. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
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      (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: 56172 HGNC: 15492 AceView: ANKH Ensembl:ENSG00000154122 euGenes: HUgn56172
    ECgene: ANKH H-InvDB: ANKH

    (According to HUGE)
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    HUGE: KIAA1581

    (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 ANKH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANKH Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ANKH[genesymbol]

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

    GeneCards and IP:
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