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

UNC13D Gene

protein-coding   GIFtS: 61
GCID: GC17M073823

Unc-13 Homolog D (C. Elegans)

  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
Unc-13 Homolog D (C. Elegans)1 2     HPLH32 5
Munc13-42 3     Protein Unc-13 Homolog D2
FHL32 5     MUNC13-45
HLH32 5     

External Ids:    HGNC: 231471   Entrez Gene: 2012942   Ensembl: ENSG000000929297   OMIM: 6088975   UniProtKB: Q70J993   

Export aliases for UNC13D gene to outside databases

Previous GC identifers: GC17M074420 GC17M071334 GC17M069249


(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 UNC13D Gene:
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other
family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The
protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic
granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type
3, a genetically heterogeneous, rare autosomal recessive disorder. (provided by RefSeq, Jul 2008)

GeneCards Summary for UNC13D Gene: 
UNC13D (unc-13 homolog D (C. elegans)) is a protein-coding gene. Diseases associated with UNC13D include hemophagocytic lymphohistiocytosis, and hemophagocytic lymphohistiocytosis, familial. GO annotations related to this gene include protein binding. An important paralog of this gene is BAIAP3.

UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99
Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and
granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal
structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing
granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory
lysosome exocytosis in mast cells

Gene Wiki entry for UNC13D Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UNC13D gene promoter:
         E2F-4   E2F-3a   GR   E2F-5   p300   GR-beta   E2F-2   E2F   E2F-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UNC13D promoter sequence
   Search SABiosciences Chromatin IP Primers for UNC13D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC13D


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.3

UNC13D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC13D gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073823:  view genomic region     (about GC identifiers)

Start:
73,823,306 bp from pter      End:
73,840,798 bp from pter
Size:
17,493 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: UN13D_HUMAN, Q70J99 (See protein sequence)
Recommended Name: Protein unc-13 homolog D  
Size: 1090 amino acids; 123282 Da
Subunit: Interacts with DOC2A (By similarity). Interacts with RAB27A
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome.
Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic
vesicles
Sequence caution: Sequence=BAB15764.1; Type=Erroneous initiation;
Secondary accessions: B4DWG9 Q9H7K5
Alternative splicing: 3 isoforms:  Q70J99-1   Q70J99-2   Q70J99-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UNC13D: NX_Q70J99

Explore proteomics data for UNC13D at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q70J99

  • UNC13D Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UNC13D Protein Expression
    REFSEQ proteins: NP_954712.1  
    ENSEMBL proteins: 
     ENSP00000466758   ENSP00000207549   ENSP00000388093   ENSP00000466149   ENSP00000466543  
     ENSP00000466377   ENSP00000466826   ENSP00000467653   ENSP00000464749  

    Human Recombinant Protein Products for UNC13D: 
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    Cloud-Clone Corp. Proteins for UNC13D 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA15548590
    GO:0005770late endosome IEA--
    GO:0016020membrane IEA--
    GO:0055037recycling endosome IEA--
    GO:0070382exocytic vesicle IDA17237785

    UNC13D for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR014772 Munc13_dom-2
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR019558 Munc13_subgr_dom-2
     IPR014770 Munc13_1
     IPR018029 C2_membr_targeting

    Graphical View of Domain Structure for InterPro Entry Q70J99

    ProtoNet protein and cluster: Q70J99

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB010439 Protein of unknown function DUF1041


    UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99
    Domain: The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome
    Similarity: Belongs to the unc-13 family
    Similarity: Contains 2 C2 domains
    Similarity: Contains 1 MHD1 (MUNC13 homology domain 1) domain
    Similarity: Contains 1 MHD2 (MUNC13 homology domain 2) domain


    UNC13D 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: UN13D_HUMAN, Q70J99
    Function: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and
    granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal
    structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing
    granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory
    lysosome exocytosis in mast cells

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15548590
         
    UNC13D for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for UNC13D:
     Decreased cell number, increas  Decreased number of cells in m  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Unc13d):
     hematopoietic system  immune system  skeleton 

    UNC13D for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UNC13D 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UNC13D 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UNC13D About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Deregulation of Rab and Rab Effector Genes in Bladder Cancer
    Deregulation of Rab and Rab Effector Genes in Bladder Cancer
    2wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
    wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for UNC13D
        wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

    1 BioSystems Pathway for UNC13D
        Deregulation of Rab and Rab Effector Genes in Bladder Cancer


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UNC13D

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for UNC13D (Q70J993 ENSP000002075494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB27BO001943, ENSP000002620944I2D: score=1 STRING: ENSP00000262094
    RAB27AP511593, ENSP000003377614I2D: score=2 STRING: ENSP00000337761
    LMNAP025453, ENSP000003572834I2D: score=1 STRING: ENSP00000357283
    ARF6P623303I2D: score=4 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002432granuloma formation IEA--
    GO:0002467germinal center formation IEA--
    GO:0006909phagocytosis IEA--
    GO:0043304regulation of mast cell degranulation IMP15548590
    GO:0043320natural killer cell degranulation IEA--

    UNC13D 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 UNC13D (UN13D)

    Search CenterWatch for drugs/clinical trials and news about UNC13D / UN13D

    (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 UNC13D gene: 
    NM_199242.2  

    Unigene Cluster for UNC13D:

    Unc-13 homolog D (C. elegans)
    Hs.41045  [show with all ESTs]
    Unigene Representative Sequence: NM_199242
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589670 ENST00000207549(uc002jpp.3) ENST00000412096(uc010wsk.1 uc002jpq.1 uc010dgq.1)
    ENST00000586519 ENST00000590856 ENST00000586930 ENST00000591563 ENST00000591616
    ENST00000586147 ENST00000587105 ENST00000587504 ENST00000592386 ENST00000590762
    ENST00000587495 ENST00000585574 ENST00000586108 ENST00000588774
    miRNA
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    Additional mRNA sequence: 

    AJ578444.1 AK300316.1 AK301529.1 BC024740.2 BC067084.1 BC139835.1 

    14 DOTS entries:

    DT.99932871  DT.100029123  DT.95170059  DT.95344172  DT.100029122  DT.100029124  DT.443862  DT.95079421 
    DT.99983940  DT.100798436  DT.120969949  DT.411491  DT.91717394  DT.91668336 

    24/204 AceView cDNA sequences (see all 204):

    BQ223067 BU179669 AJ578444 NM_199242 AI961015 AW027302 AI814239 AI831754 
    BM850971 BF916818 AI699283 BM843786 BM818363 BQ953730 AI742099 BQ686867 
    AI524238 T83023 AW964054 BQ689368 BX389742 BM855779 BM768728 AI380578 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for UNC13D    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                                                                            
    SP2:        -                                                                                                                                                   

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
    SP1:                                    
    SP2:                                    


    ECgene alternative splicing isoforms for UNC13D

    (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

    UNC13D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATGGGGG
    UNC13D Expression
    About this image


    See UNC13D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UNC13D

    SOURCE GeneReport for Unigene cluster: Hs.41045

    UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99
    Tissue specificity: Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and
    placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic
    T-lymphocytes (CTL) and mast cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13D

    (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 UNC13D gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc13d1 , 5 unc-13 homolog D (C. elegans)1, 5 86.17(n)1
    88.17(a)1
      11 (80.91 cM)5
    704501  NM_001009573.21  NP_001009573.21 
     1160620955 
    chicken
    (Gallus gallus)
    Aves UNC13D1 unc-13 homolog D (C. elegans) 70.98(n)
    65.4(a)
      417369  XM_415627.2  XP_415627.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    UNC13D6
    unc-13 homolog D (C. elegans)

    63(a)
    possible ortholog
    1 ↔ 1
    AAWZ02037713(981-13949)
    2(113500107-113564402)
    zebrafish
    (Danio rerio)
    Actinopterygii BM342312.12   -- 71.5(n)    BM342312.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-13-4A6
    CG343496
    --
    23(a)
    21(a)
    1 ↔ many
    possible ortholog
    3L(7259344-7305996)
    3R(20882812-20890070)
    worm
    (Caenorhabditis elegans)
    Secernentea F54G2.16
    Protein F54G2.1, isoform a
    22(a)
    1 → many
    X(2621274-2664373)


    ENSEMBL Gene Tree for UNC13D (if available)
    TreeFam Gene Tree for UNC13D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UNC13D gene
    BAIAP32  
    2 SIMAP similar genes for UNC13D using alignment to 8 protein entries:     UN13D_HUMAN (see all proteins):
    BAIAP3    SYT5

    UNC13D 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

    10/707 SNPs in UNC13D are shown (see all 707)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214343521,2
    Cpathogenic174919875(-) GCTGCC/TGAGAG 2 R * stg10--------
    rs1116095741,2
    C,F--73825576(+) TCACCG/ATGTTA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1128658161,2
    C,F--73825807(+) GCTGAG/CAGTAC 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1133560061,2
    F--73834455(+) CCCCCA/GCACCT 1 -- int12Minor allele frequency- G:0.05CSA WA 120
    rs2013125441,2
    C--73835180(+) AAAAA-/AGCAGC 1 -- int10--------
    rs1459963651,2
    --74906344(+) CGACTA/CCTGTC 1 -- ds50010--------
    rs1399439951,2
    --74906361(+) TTGTGC/TAGACT 1 -- ds50010--------
    rs1876437061,2
    --74906417(+) GATGAC/TCAGGC 1 -- ds50010--------
    rs1913469941,2
    --74906455(+) GGAGGA/GACCCA 1 -- ds50010--------
    rs1124262681,2
    C,F--74906469(+) CCTCTA/GCGCCC 1 -- ds50012Minor allele frequency- G:0.09CSA WA 119

    HapMap Linkage Disequilibrium report for UNC13D (73823306 - 73840798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for UNC13D:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908804CNV Loss21882294
    nsv470606CNV Loss18288195
    nsv908820CNV Loss21882294
    nsv510728CNV Loss20534489
    dgv3268n71CNV Loss21882294
    dgv3267n71CNV Loss21882294
    dgv3264n71CNV Loss21882294
    nsv833545CNV Gain17160897


    Human Gene Mutation Database (HGMD): UNC13D

    Locus Specific Mutation Databases (LSDB): UNC13D
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC13D
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608897   
    OMIM disorders: 608898  
    UniProtKB/Swiss-Prot: UN13D_HUMAN, Q70J99
  • Familial hemophagocytic lymphohistiocytosis 3 (FHL3) [MIM:608898]: A rare disorder characterized by
    immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration
    of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever,
    hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and
    hypotonia to seizures, cranial nerve deficits and ataxia. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 12 diseases for UNC13D:    About MalaCards
    hemophagocytic lymphohistiocytosis    hemophagocytic lymphohistiocytosis, familial    hemophagocytic lymphohistiocytosis, familial, 3    systemic onset juvenile idiopathic arthritis
    griscelli syndrome type 2    griscelli syndrome    chediak-higashi syndrome    hydrops fetalis
    hypotonia    hypertriglyceridemia    ataxia    arthritis

    2 diseases from the University of Copenhagen DISEASES database for UNC13D:
    Hemophagocytic lymphohistiocytosis     Chediak-Higashi syndrome

    UNC13D for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for UNC13D gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial hemophagocytic lymphohistiocytosis 96.6 11 16778144 (2), 20015888 (1), 19704116 (1), 16962048 (1) (see all 5)
    griscelli syndrome, type 2 95.4 4 19704116 (1), 16962048 (1)
    lymphohistiocytosis hemophagocytic 78.8 1 16278825 (1)

    GeneTests: UNC13D
    GeneReviews: UNC13D
    Genetic Association Database (GAD): UNC13D
    Human Genome Epidemiology (HuGE) Navigator: UNC13D (3 documents)

    Export disorders for UNC13D 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 UNC13D gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with UNC13D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. (PubMed id 18759271)1, 4 Zhang K....Grom A.A. (2008)
    2. Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (PubMed id 18311812)1, 4 Donn R....Ramanan A.V. (2008)
    3. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (PubMed id 18710388)1, 4 Horne A....Henter J.I. (2008)
    4. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. (PubMed id 17237785)1, 2 Menager M.M.... de Saint Basile G. (2007)
    5. Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. (PubMed id 15548590)1, 2 Neeft M.... van der Sluijs P. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). (PubMed id 14622600)1, 2 Feldmann J....de Saint Basile G. (2003)
    9. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 2 Hattori A.... Ohara O. (2000)
    10. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. (PubMed id 19704116)1, 9 Wood S.M....Bryceson Y.T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 201294 HGNC: 23147 AceView: UNC13D Ensembl:ENSG00000092929 euGenes: HUgn201294
    ECgene: UNC13D H-InvDB: UNC13D

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UNC13D Pharmacogenomics, SNPs, Pathways
    UNC13Dbasehttp://bioinf.uta.fi/UNC13Dbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNC13D

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UNC13D gene:
    Search GeneIP for patents involving UNC13D

    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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