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

UACA Gene

protein-coding   GIFtS: 54
GCID: GC15M070946

Uveal Autoantigen With Coiled-Coil Domains And Ankyrin Repeats

  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
Uveal Autoantigen With Coiled-Coil Domains And Ankyrin Repeats1 2
NUCLING2 5
Nuclear Membrane Binding Protein2
Uveal Autoantigen With Coiled Coil Domains And Ankyrin Repeats2
KIAA15613

External Ids:    HGNC: 159471   Entrez Gene: 550752   Ensembl: ENSG000001378317   OMIM: 6125165   UniProtKB: Q9BZF93   

Export aliases for UACA gene to outside databases

Previous GC identifers: GC15M066744 GC15M064046 GC15M068525 GC15M068665 GC15M068736 GC15M047782


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for UACA Gene: 
UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats) is a protein-coding gene. Diseases associated with UACA include panuveitis, and vogt-koyanagi-harada disease. GO annotations related to this gene include protein binding and molecular_function. An important paralog of this gene is RAI14.

UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9
Function: Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis.
Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and
NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress.
Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity)
Function: Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and
motility. Interaction with ARF6 may modulate cell shape and motility after injury (By similarity)

Gene Wiki entry for UACA 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UACA gene promoter:
         RFX1   FOXD3   HSF1 (long)   Ik-3   E4BP4   MZF-1   SRY   c-Myb   HSF1short   NF-kappaB1   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 15q22-q24   Ensembl cytogenetic band:  15q23   HGNC cytogenetic band: 15q22-q24

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M070946:  view genomic region     (about GC identifiers)

Start:
70,946,893 bp from pter      End:
71,055,932 bp from pter
Size:
109,040 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: UACA_HUMAN, Q9BZF9 (See protein sequence)
Recommended Name: Uveal autoantigen with coiled-coil domains and ankyrin repeats  
Size: 1416 amino acids; 162505 Da
Subunit: Component of the apoptosome complex, composed of APAF1, pro-caspase-9 and UACA. In the complex, it
probably interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB (By similarity)
Subcellular location: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Expressed diffusely in cytoplasm
Miscellaneous: UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and
sarcoidosis that cause different types of panuevitis
Sequence caution: Sequence=BAA91457.1; Type=Erroneous initiation;
Secondary accessions: G3XAG2 Q14DD3 Q8N3B8 Q96NH6 Q9HCL1 Q9NWC6
Alternative splicing: 2 isoforms:  Q9BZF9-1   Q9BZF9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UACA: NX_Q9BZF9

Explore proteomics data for UACA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZF9

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

    UACA Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001008225.1  NP_060473.2  

    ENSEMBL proteins: 
     ENSP00000314556   ENSP00000369319   ENSP00000454018   ENSP00000438667   ENSP00000453865  
     ENSP00000453616  

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

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS11162650
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--

    UACA for ontologies           About GeneDecksing



    UACA Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for UACA 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9BZF9

    ProtoNet protein and cluster: Q9BZF9

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9
    Similarity: Contains 6 ANK repeats


    UACA 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: UACA_HUMAN, Q9BZF9
    Function: Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis.
    Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and
    NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress.
    Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity)
    Function: Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and
    motility. Interaction with ARF6 may modulate cell shape and motility after injury (By similarity)
    Induction: Up-regulated after TSH stimulation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI17003112
         
    UACA for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uaca):
     cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  renal/urinary system  reproductive system 
     respiratory system  tumorigenesis 

    UACA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Uacatm1Kiy for UACA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UACA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UACA

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UACA
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate UACA (see all 34):
    hsa-miR-3685 hsa-miR-3194-5p hsa-miR-640 hsa-miR-4307 hsa-miR-200a hsa-miR-29a hsa-miR-141 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidUACA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sino Biological Human cDNA Clone for UACA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UACA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UACA
    Sirion Biotech Customized lentivirus for stable overexpression of UACA 
                         Customized lentivirus expression plasmids for stable overexpression of UACA 

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


    (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 UACA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/14 Interacting proteins for UACA (Q9BZF92, 3 ENSP000003145564) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48474 I2D: score=2 
    NFKBIEO002213, ENSP000002750154I2D: score=1 STRING: ENSP00000275015
    STAMBPO956303, ENSP000003447424I2D: score=1 STRING: ENSP00000344742
    RELQ048643, ENSP000002950254I2D: score=1 STRING: ENSP00000295025
    CELSR3Q9NYQ73, ENSP000001640244I2D: score=2 STRING: ENSP00000164024
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage IEA--
    GO:0008631intrinsic apoptotic signaling pathway in response to oxidative stress IEA--
    GO:0009411response to UV IEA--
    GO:0042307positive regulation of protein import into nucleus IEA--

    UACA 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 UACA

    Search CenterWatch for drugs/clinical trials and news about UACA

    (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 UACA gene (2 alternative transcripts): 
    NM_001008224.1  NM_018003.2  

    Unigene Cluster for UACA:

    Uveal autoantigen with coiled-coil domains and ankyrin repeats
    Hs.108049  [show with all ESTs]
    Unigene Representative Sequence: NM_001008224
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322954(uc002asq.3 uc002asr.3 uc010uke.2) ENST00000379983(uc010bin.1)
    ENST00000560441 ENST00000559206 ENST00000560831 ENST00000539319 ENST00000558758
    ENST00000559290 ENST00000558308 ENST00000560523 ENST00000559156 ENST00000560951
    ENST00000559183 ENST00000560167
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UACA
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate UACA (see all 34):
    hsa-miR-3685 hsa-miR-3194-5p hsa-miR-640 hsa-miR-4307 hsa-miR-200a hsa-miR-29a hsa-miR-141 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidUACA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for UACA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UACA
    Clone
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    OriGene ORF clones in mouse, rat for UACA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UACA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UACA
    Sirion Biotech Customized lentivirus for stable overexpression of UACA 
                         Customized lentivirus expression plasmids for stable overexpression of UACA 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for UACA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UACA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UACA

    Additional mRNA sequence: 

    AB046781.2 AF322916.1 AK000990.1 AK055435.1 AK057207.1 AL834243.1 AL834464.1 BC016881.1 
    BC113407.1 BC113409.1 BC143266.1 BC143267.1 

    12 DOTS entries:

    DT.452469  DT.91743283  DT.75106426  DT.100783434  DT.91977897  DT.100025907  DT.99996995  DT.92433721 
    DT.100783436  DT.95281787  DT.100783438  DT.91695802 

    24/173 AceView cDNA sequences (see all 173):

    AA424983 BM785263 BG621057 BM696447 BF966001 BG030772 AI923393 AU118158 
    BG253578 BM975469 BF796781 AA593576 AW024696 BG742332 AK000990 AW104686 
    CA438868 AI886174 AI125748 BQ431542 CA430153 AA909630 BG253615 BG619509 

    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™, 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

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


    UACA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Umbilical cord blood-derived endothelial progenitor cells
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Umbilical cord blood-derived mesenchymal stem cells
             Human Umbilical Artery Endothelial Cells (HUAEC)   
     
     Ovary (Reproductive System)
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Uterus (Reproductive System)
             endometrial endothelial cell   

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

    SOURCE GeneReport for Unigene cluster: Hs.108049

    UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9
    Tissue specificity: Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina
    and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells

        SABiosciences Custom PCR Arrays for UACA
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UACA

    (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 chordates.

    Orthologs for UACA gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uaca1 , 5 uveal autoantigen with coiled-coil domains and ankyrin more1, 5 77.76(n)1
    79.94(a)1
      9 (32.93 cM)5
    725651  NM_028283.21  NP_082559.11 
     607945485 
    chicken
    (Gallus gallus)
    Aves UACA1 uveal autoantigen with coiled-coil domains and ankyrin more 69.74(n)
    65.71(a)
      415569  XM_413937.3  XP_413937.3 
    lizard
    (Anolis carolinensis)
    Reptilia UACA6
    Uncharacterized protein
    57(a)
    1 ↔ 1
    GL343642.1(113099-147552)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.49682 Xenopus laevis transcribed sequence with weak similarity more 72.78(n)    CA974356.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb4722 sbcb472 77.18(n)   368339  57068913 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UACA gene
    RAI142  ANKRD242  ANKRD352  
    12 SIMAP similar genes for UACA using alignment to 8 protein entries:     UACA_HUMAN (see all proteins):
    DKFZp564M063    ANKRD35    RAI14    ANKRD24    ANKRD6    HACE1
    CDKN2C    IkBa    ANKRD44    ANK2    ANKDD1A    ANKRD42

    UACA 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

    10/2007 SNPs in UACA are shown (see all 2007)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1167111631,2
    F--70946487(+) CTCCTG/ACAAGC 2 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1470610221,2
    --70946492(+) GCAAGC/GAGGCA 2 -- ds50010--------
    rs1830143031,2
    --70946570(+) GAGTCA/GGTCAA 2 -- ds50010--------
    rs1872752771,2
    --70946603(+) TAACAA/GGCACA 2 -- ds50010--------
    rs1921493051,2
    --70946680(+) GCTCAC/TGTTCT 2 -- ds50010--------
    rs1384300581,2
    --70946748(+) AATTGC/TAAACT 2 -- ds50010--------
    rs2016327611,2
    C--70946789(-) TTTTAG/TTTGAA 2 -- ds50010--------
    rs7205191,2
    H--70946973(-) CATCAG/CAAAAG 2 -- ut316Minor allele frequency- C:0.00NA MN NS EA 684
    rs770256711,2
    C--70946988(+) AGTGAC/AAAAAA 2 -- ut311Minor allele frequency- A:0.50NA 2
    rs286074771,2
    C,F,H--70947138(+) TCTCAT/CAGTCT 2 -- ut3119Minor allele frequency- C:0.16NS EA NA WA 2344

    HapMap Linkage Disequilibrium report for UACA (70946893 - 71055932 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for UACA (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669798CNV Deletion23128226
    esv2749845CNV Deletion23290073
    esv2674549CNV Deletion23128226
    nsv436199CNV Deletion17901297
    nsv1594CNV Insertion18451855
    esv7243CNV Loss19470904
    nsv833049CNV Loss17160897
    nsv1595CNV Loss18451855
    nsv524129CNV Loss19592680
    nsv512402CNV Loss21212237

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    (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: 612516    OMIM disorders: --

    12 diseases for UACA:    About MalaCards
    panuveitis    vogt-koyanagi-harada disease    behcet's disease    graves' disease
    sarcoidosis    choroiditis    non-small cell lung carcinoma    chronic lymphocytic leukemia
    hypoxia    retinitis    thyroiditis    leukemia

    1 disease from the University of Copenhagen DISEASES database for UACA:
    Vogt-Koyanagi-Harada disease

    UACA for disorders           About GeneDecksing

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

    Export disorders for UACA 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 UACA gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with UACA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel autoantigen UACA in patients with panuveitis. (PubMed id 11162650)1, 2, 3 Yamada K.... Nishimura Y. (2001)
    2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    4. Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease. (PubMed id 15358194)1, 2 Ohkura T.... Shigemasa C. (2004)
    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. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Down-regulated expression of apoptosis-associated gene s APIP and UACA in non-small cell lung carcinoma. (PubMed id 22407486)1 Moravcikova E....Benkova K. (2012)
    10. Identification and characterization of nardilysin as a novel dimethyl H3K4-binding protein involved in transcriptional regulation. (PubMed id 22294699)1 Li J....Wong J. (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: 55075 HGNC: 15947 AceView: UACA Ensembl:ENSG00000137831 euGenes: HUgn55075
    ECgene: UACA H-InvDB: UACA

    (According to HUGE)
    About This Section
    HUGE: KIAA1561

    (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 UACA 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 UACA gene:
    Search GeneIP for patents involving UACA

    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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