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UNC13D Gene

protein-coding   GIFtS: 62
GCID: GC17M073823

Unc-13 Homolog D (C. Elegans)
  See related diseases
at
MalaCards
 

Aliases
for UNC13D gene

(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
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


Summaries
for UNC13D gene

(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 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, 3. 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


Genomic Views
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for UNC13D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Proteins
for UNC13D gene

(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: 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
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: 

  • Ubiquitination2 at Lys511, Lys599, Lys625, Lys714, Lys773, Lys917
  • Modification sites at PhosphoSitePlus

    • See UNC13D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    UNC13D Human Recombinant Protein Products:

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    Novus Biologicals UNC13D Protein
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    Cloud-Clone Corp. Proteins for UNC13D

    UNC13D Antibody Products:

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    UNC13D Assay Products:

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    Cloud-Clone Corp. ELISAs for UNC13D
    Cloud-Clone Corp. CLIAs for UNC13D

    Domains /
    Families
    for UNC13D gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 4 InterPro protein domains:
     IPR014772 Munc13_dom-2
     IPR019558 Munc13_subgr_dom-2
     IPR014770 Munc13_1
     IPR000008 C2_dom

    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


    Function
    for UNC13D gene

    (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: 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:    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: Let us create your new Knockout/Knockin mouse model for UNC13D
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UNC13D
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UNC13D

    miRNA
    Products:            		miRTarBase miRNAs that target UNC13D:
    hsa-let-7b-5p (MIRT032278), hsa-mir-1 (MIRT023568), hsa-mir-320a (MIRT044594), hsa-mir-335-5p (MIRT017327)

    Block miRNA regulation of human, mouse, rat UNC13D using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate UNC13D
    SwitchGear 3'UTR luciferase reporter plasmid: UNC13D 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UNC13D

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for UNC13D

    Clone
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    OriGene ORF clones in mouse, rat for UNC13D
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    GenScript: all cDNA clones in your preferred vector: UNC13D (NM_199242)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNC13D
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13D

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for UNC13D 
    In Situ Assay
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    Localization
    for UNC13D gene

    (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
    UN13D_HUMAN, Q70J99: Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome.
    Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic
    vesicles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    nucleus3
    cytosol2
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    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


    Pathways & Interactions
    for UNC13D gene

    (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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    SuperPaths for UNC13D About                                                                                                See pathways by source

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

    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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UNC13D
    Interactions:

        GeneGlobe Interaction 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): Selected biological process terms (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



    Drugs & Compounds
    for UNC13D gene

    (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)
    About This Section

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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 UNC13D (UN13D)



    Transcripts
    for UNC13D gene

    (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 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
    Products:             		 Block miRNA regulation of human, mouse, rat UNC13D using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate UNC13D
    SwitchGear 3'UTR luciferase reporter plasmid: UNC13D 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UNC13D
    Clone
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    OriGene ORF clones in mouse, rat for UNC13D
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UNC13D (NM_199242)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNC13D
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC13D
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13D
      QuantiTect SYBR Green Assays in human, mouse, rat UNC13D
      QuantiFast Probe-based Assays in human, mouse, rat UNC13D

    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 

    Selected AceView cDNA sequences (see all 204):

    BG054744 BU180107 BQ691298 BM726197 BM855779 BQ953730 BM717755 AI085248 
    NM_199242 AI524238 BM843786 BM818363 BQ223067 BM851221 AI961015 BF916818 
    BU501328 AW137239 BQ686867 BX389742 BM821675 BM851287 AJ578444 T83023 

    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

    Expression
    for UNC13D gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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)
    About This Section

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    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

    UNC13D Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    UNC13D Protein Expression

    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

        Custom PCR Arrays for UNC13D
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13D
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    QuantiFast Probe-based Assays in human, mouse, rat UNC13D
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13D

    Orthologs
    for UNC13D gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for UNC13D gene from Selected species (see all 15)    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) 71.18(n)
    65.71(a)    		   417369  XM_004946128.1  XP_004946185.1 
    lizard
    (Anolis carolinensis)    		 Reptilia UNC13D6
    		 unc-13 homolog D (C. elegans)
    		 63(a)
    		 1 ↔ 1
    		 2(113500107-113564402)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia unc13d1 unc-13 homolog D 62.23(n)
    59.93(a)    		   100145635  NM_001127035.1  NP_001120507.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BM342312.12   -- 71.5(n)    BM342312.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta unc-13-4A6
    CG343496
    		 --
    		 23(a)
    21(a)
    		 many ↔ many
    many ↔ many
    		 3L(7259344-7305996)
    3R(20882812-20890070)
    worm
    (Caenorhabditis elegans)    		 Secernentea F54G2.16
    		 Protein F54G2.1, isoform a
    		 22(a)
    		 1 → many
    		 X(2621274-2664373) WBGene00018837


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

    Paralogs
    for UNC13D gene

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



    Genomic Variants
    for UNC13D gene

    (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 UNC13D (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC13D
    DNA2.0 Custom Variant and Variant Library Synthesis for UNC13D

    Disorders / Diseases
    for UNC13D gene

    (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

    TryGeneCards Plus    		 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

    • 17 diseases for UNC13D:    About MalaCards
    hemophagocytic lymphohistiocytosis    hemophagocytic lymphohistiocytosis, familial, 3    griscelli syndrome type 2    systemic onset juvenile idiopathic arthritis
    hemophagocytic lymphohistiocytosis, familial    hemophagocytic lymphohistiocytosis, familial, 4    griscelli syndrome    hydrops fetalis
    chediak-higashi syndrome    hypertriglyceridemia    hypotonia    childhood leukemia
    ataxia    arthritis    multiple myeloma    myeloma
    leukemia

    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

    Publications
    for UNC13D gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for UNC13D gene, integrated from 10 sources (see all 60):
    (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. (Arthritis Rheum. 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. (Arthritis Rheum. 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. (Br. J. Haematol. 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. (Nat. Immunol. 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. (Mol. Biol. Cell 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (Cell 2003)
    9. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 2 Hattori A.... Ohara O. (DNA Res. 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. (Blood 2009)

    External Searches for UNC13D gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing UNC13D gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 201294 HGNC: 23147 AceView: UNC13D Ensembl:ENSG00000092929 euGenes: HUgn201294
    ECgene: UNC13D H-InvDB: UNC13D

    Other Databases showing UNC13D gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing UNC13D gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for UNC13D Pharmacogenomics, SNPs, Pathways
    UNC13Dbasehttp://bioinf.uta.fi/UNC13Dbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UNC13D[genesymbol]

    Intellectual Property
    for UNC13D gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for UNC13D gene:
    Search GeneIP for patents involving UNC13D

    GeneCards and IP:
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