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

ATCAY Gene

protein-coding   GIFtS: 53
GCID: GC19P003880

Ataxia, Cerebellar, Cayman Type

  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
Ataxia, Cerebellar, Cayman Type1 2     BNIP-H2 3
Cayman Ataxia1 2     CLAC2 5
caytaxin1 2     KIAA18723 5
Ataxia Cayman Type Protein2 3     BNIP-2-homolgy2
BNIP-2-homology2 3     

External Ids:    HGNC: 7791   Entrez Gene: 853002   Ensembl: ENSG000001676547   OMIM: 6081795   UniProtKB: Q86WG33   

Export aliases for ATCAY gene to outside databases

Previous GC identifers: GC19U990004 GC19P003832 GC19P003833 GC19P003834 GC19P003644


(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 ATCAY Gene:
This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small
lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ATCAY Gene: 
ATCAY (ataxia, cerebellar, Cayman type) is a protein-coding gene. Diseases associated with ATCAY include cerebellar ataxia, cayman type, and infantile onset spinocerebellar ataxia. GO annotations related to this gene include protein binding and kinesin binding. An important paralog of this gene is BNIP2.

UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
Function: Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar
cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the
production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of
mitochondria within axons and dendrites




(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_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATCAY gene promoter:
         STAT1   USF1   STAT1beta   Tal-1beta   STAT1alpha   E47   CBF-B   USF-1   c-Myb   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATCAY promoter sequence
   Search SABiosciences Chromatin IP Primers for ATCAY

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


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P003880:  view genomic region     (about GC identifiers)

Start:
3,879,862 bp from pter      End:
3,928,080 bp from pter
Size:
48,219 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3 (See protein sequence)
Recommended Name: Caytaxin  
Size: 371 amino acids; 42120 Da
Subunit: Interacts with KLC1; may link mitochondria to KLC1 and regulate mitochondria localization into neuron
projections (By similarity). Interacts with GLS; the interaction is direct and may control GLS localization,
negatively regulating its activity. Interacts with PIN1 (via WW domain); upon NGF stimulation. The interaction
with PIN1 and GLS is competitive. May interact with MAP2K2
Subcellular location: Cell projection, axon (By similarity). Cell projection, dendrite (By similarity). Cell
junction, synapse (By similarity). Cytoplasm. Mitochondrion envelope. Note=Localizes presynaptically into neuron
projections
Sequence caution: Sequence=BAB47501.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC03859.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
Secondary accessions: Q8NAQ2 Q8TAQ3 Q96HC6 Q96JF5
Alternative splicing: 2 isoforms:  Q86WG3-1   Q86WG3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATCAY: NX_Q86WG3

Explore proteomics data for ATCAY at MOPED 

Post-translational modifications:

  • UniProtKB: Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK
    signaling pathway through MAP2K2
  • UniProtKB: May be ubiquitinated by STUB1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86WG3

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

    ATCAY Protein Expression
    REFSEQ proteins: NP_149053.1  
    ENSEMBL proteins: 
     ENSP00000471731   ENSP00000390941   ENSP00000472263   ENSP00000470842   ENSP00000301260  
     ENSP00000381466  

    Human Recombinant Protein Products for ATCAY: 
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    Novus Biologicals ATCAY Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATCAY 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA16899818
    GO:0005739NOT colocalizes with mitochondrion IDA16899818
    GO:0030054cell junction IEA--
    GO:0030424axon ISS--
    GO:0030425dendrite ISS--

    ATCAY for ontologies           About GeneDecksing



    ATCAY Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR022181 Bcl2-/adenovirus-E1B
     IPR001251 CRAL-TRIO_dom

    Graphical View of Domain Structure for InterPro Entry Q86WG3

    ProtoNet protein and cluster: Q86WG3

    UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
    Domain: The CRAL-TRIO domain is known to bind small hydrophobic molecules (By similarity)
    Similarity: Contains 1 CRAL-TRIO domain


    ATCAY 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: ATCAY_HUMAN, Q86WG3
    Function: Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar
    cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the
    production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of
    mitochondria within axons and dendrites

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16275660
    GO:0019894kinesin binding IPI19861499
         
    ATCAY for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ATCAY:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Atcay):
     behavior/neurological  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  reproductive system 

    ATCAY for phenotypes           About GeneDecksing

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

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

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate ATCAY (see all 12):
    hsa-miR-498 hsa-miR-10b hsa-miR-3190 hsa-miR-10a hsa-miR-646 hsa-miR-141* hsa-miR-124 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidATCAY 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    OriGene ORF clones in mouse, rat for ATCAY
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                         Customized lentivirus expression plasmids for stable overexpression of ATCAY 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATCAY


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

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

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

    2 Interacting proteins for ATCAY (Q86WG31, 3 ENSP000003909414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STUB1Q9UNE71, 3, ENSP000002195484EBI-1783328,EBI-357085 I2D: score=2 STRING: ENSP00000219548
    UBE2D2P628373, ENSP000003817174I2D: score=1 STRING: ENSP00000381717
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0031175neuron projection development ISS--
    GO:0032880regulation of protein localization IDA16899818
    GO:0048311mitochondrion distribution ISS--
    GO:2000212negative regulation of glutamate metabolic process IDA16899818

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

    Browse Tocris compounds for ATCAY

    Search CenterWatch for drugs/clinical trials and news about ATCAY

    (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 ATCAY gene: 
    NM_033064.4  

    Unigene Cluster for ATCAY:

    Ataxia, cerebellar, Cayman type
    Hs.418055  [show with all ESTs]
    Unigene Representative Sequence: NM_033064
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598136 ENST00000450849(uc002lyy.4 uc010xhz.2 uc010dts.3)
    ENST00000595916 ENST00000597739 ENST00000600960 ENST00000601323 ENST00000301260
    ENST00000398448
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATCAY
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate ATCAY (see all 12):
    hsa-miR-498 hsa-miR-10b hsa-miR-3190 hsa-miR-10a hsa-miR-646 hsa-miR-141* hsa-miR-124 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidATCAY 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATCAY
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATCAY

    Additional mRNA sequence: 

    AB058775.1 AK027889.1 AK092298.1 AK092309.1 AK125457.1 AK299522.1 AY220297.1 BC008736.2 
    BC014884.1 BC026217.1 

    7 DOTS entries:

    DT.65285688  DT.100020288  DT.100735611  DT.100781347  DT.121449658  DT.91786501  DT.91912807 

    24/72 AceView cDNA sequences (see all 72):

    CR624420 BG913417 BF529143 AA364005 BC026217 CB152886 NM_033064 AY220297 
    AI278847 BU521943 AA325587 BF346320 AL134418 AB058775 BF346854 CB153153 
    AU253812 AA670368 BG914046 CB153985 BG912613 AK125457 AX747472 T05645 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATCAY (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                            -     -     -                                                                     
    SP2:                                            -     -     -                                                                     
    SP3:                                            -           -                                                                     
    SP4:                                -           -     -     -                                                                     
    SP5:                                            -     -                                                                           


    ECgene alternative splicing isoforms for ATCAY

    (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

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


    ATCAY expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             colon ; peripheral nerve/ganglion   
             autonomic/sympathetic/ganglion   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

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

    SOURCE GeneReport for Unigene cluster: Hs.418055
        SABiosciences Custom PCR Arrays for ATCAY
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATCAY
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATCAY

    (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 ATCAY gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atcay1 , 5 ataxia, cerebellar, Cayman type homolog (human)1, 5 83.47(n)1
    91.37(a)1
      10 (39.72 cM)5
    164671  NM_178662.31  NP_848777.11 
     812045085 
    chicken
    (Gallus gallus)
    Aves ATCAY1 ataxia, cerebellar, Cayman type 82.82(n)
    90.81(a)
      420094  XM_418214.3  XP_418214.3 
    zebrafish
    (Danio rerio)
    Actinopterygii atcaya1 ataxia, cerebellar, Cayman type a 71.51(n)
    76.24(a)
      565827  XM_003200957.1  XP_003201005.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG115936
    --
    22(a)
    1 → many
    3L(4037523-4040482)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATCAY gene
    BNIP22  PRUNE22  BNIPL2  
    4 SIMAP similar genes for ATCAY using alignment to 4 protein entries:     ATCAY_HUMAN (see all proteins):
    PRUNE2    BNIP2    BNIPL    ARHGAP8

    ATCAY for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1303 SNPs in ATCAY are shown (see all 1303)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0171644
    Cerebellar ataxia, cayman type (ATCAY)4--see VAR_0171642 S R mis40--------
    rs1431212641,2
    C--3642552(+) GTGTGA/GTGGTG 1 -- us2k10--------
    rs1883836211,2
    --3803150(+) TTGCGC/GTGAGC 1 -- us2k10--------
    rs1130542091,2
    C--3803206(+) TGTCTCAAAA/
            
    CAAAA
    1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1812118721,2
    --3803271(+) AACAAC/GAACAA 1 -- us2k10--------
    rs48069611,2
    C,F,H--3803348(+) TAATCC/TCAACA 1 -- us2k115Minor allele frequency- T:0.14NS EA NA 1806
    rs1416282351,2
    C--3803375(+) TGAGAA/GGCTCA 1 -- us2k10--------
    rs1452974431,2
    C--3803461(+) AGGGCG/TTGGTG 1 -- us2k10--------
    rs1379403401,2
    --3803464(+) GCGTGA/GTGGTA 1 -- us2k10--------
    rs48069621,2
    C,F,A,H--3803486(+) tctcaG/Accact 1 -- us2k123Minor allele frequency- A:0.48NS EA NA WA CSA 2064

    HapMap Linkage Disequilibrium report for ATCAY (3879862 - 3928080 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ATCAY:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717976CNV Deletion23290073
    esv1401003CNV Insertion17803354
    dgv3665n71CNV Loss21882294
    nsv910783CNV Loss21882294
    nsv910780CNV Loss21882294
    nsv833715CNV Loss17160897
    nsv910781CNV Loss21882294


    Human Gene Mutation Database (HGMD): ATCAY
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATCAY
    DNA2.0 Custom Variant and Variant Library Synthesis for ATCAY

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608179   
    OMIM disorders: 601238  
    UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
  • Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]: Found in a population isolate on Grand Cayman Island
    and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including
    nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for ATCAY:    About MalaCards
    cerebellar ataxia, cayman type    infantile onset spinocerebellar ataxia    cerebellar ataxia    ataxia
    refsum disease    axonal neuropathy    apraxia    friedreich ataxia
    tremor    spinocerebellar ataxia    albinism    hypotonia
    neuropathy    schizophrenia    neuronitis

    5 diseases from the University of Copenhagen DISEASES database for ATCAY:
    Infantile onset spinocerebellar ataxia     Cerebellar ataxia     Axonal neuropathy     Apraxia
    DOID:4019

    ATCAY for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATCAY

    Export disorders for ATCAY 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 ATCAY gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with ATCAY)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (PubMed id 14556008)1, 2, 3, 9 Bomar J.M.... Burmeister M. (2003)
    2. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. (PubMed id 16899818)1, 2, 9 Buschdorf J.P....Low B.C. (2006)
    3. Identification of VCP/p97, carboxyl terminus of Hsp70-interacting protein (CHIP), and amphiphysin II interaction partners using membrane-based human proteome arrays. (PubMed id 16275660)1, 2, 9 Grelle G....Wanker E.E. (2006)
    4. A genome-wide association study of aging. (PubMed id 21782286)1, 4 Walter S....Franceschini N. (2011)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    8. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. (PubMed id 8845847)1, 3 Nystuen A....Sheffield V.C. (1996)
    9. Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons. (PubMed id 18628984)2, 9 Buschdorf J.P....Low B.C. (2008)
    10. Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. (PubMed id 23226316)1 Sikora K.M....Hortsch M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 85300 HGNC: 779 AceView: ATCAY Ensembl:ENSG00000167654 euGenes: HUgn85300
    ECgene: ATCAY H-InvDB: ATCAY

    (According to HUGE)
    About This Section
    HUGE: KIAA1872

    (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 ATCAY Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATCAY

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

    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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