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UNC13B Gene

protein-coding   GIFtS: 65
GCID: GC09P035117

Unc-13 Homolog B (C. Elegans)

(Previous name: unc-13-like (C. elegans))
(Previous symbol: UNC13)
  See UNC13B-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Unc-13 Homolog B (C. Elegans)1 2     Homolog Of Rat Munc13 (Diacylglycerol-Binding)2
UNC131 2 3 5     munc13-22
MUNC132 5     Protein Unc-13 Homolog B2
Unc-13-Like (C. Elegans)1     Munc13-23
Unc13h22     munc133

External Ids:    HGNC: 125661   Entrez Gene: 104972   Ensembl: ENSG000001987227   OMIM: 6058365   UniProtKB: O147953   

Export aliases for UNC13B gene to outside databases

Previous GC identifers: GC09P035153 GC09P035154 GC09P035155


(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 UNC13B Gene:
This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded
protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a
diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to
induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of
hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic
vesicle exocytosis. (provided by RefSeq, Jul 2008)

GeneCards Summary for UNC13B Gene:
UNC13B (unc-13 homolog B (C. elegans)) is a protein-coding gene. Diseases associated with UNC13B include hyperglycemia. GO annotations related to this gene include diacylglycerol binding and signal transducer activity. An important paralog of this gene is UNC13C.

UniProtKB/Swiss-Prot: UN13B_HUMAN, O14795
Function: Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger
pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion
and participates in the activity-depending refilling of readily releasable vesicle pool (RRP). Essential for
synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By
similarity)

Gene Wiki entry for UNC13B 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 at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UNC13B gene promoter:
         STAT5B   HTF   FOXD1   RelA   CUTL1   GATA-1   Egr-4   Egr-2   c-Rel   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UNC13B promoter sequence
   Search Chromatin IP Primers for UNC13B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UNC13B


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.3

UNC13B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC13B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P035117:  view genomic region     (about GC identifiers)

Start:
35,161,989 bp from pter      End:
35,405,335 bp from pter
Size:
243,347 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UN13B_HUMAN, O14795 (See protein sequence)
Recommended Name: Protein unc-13 homolog B  
Size: 1591 amino acids; 180679 Da
Subunit: Interacts with RIMS1 (By similarity)
Secondary accessions: Q5VYM8

Explore the universe of human proteins at neXtProt for UNC13B: NX_O14795

Explore proteomics data for UNC13B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19
  • Modification sites at PhosphoSitePlus

  • See UNC13B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006368.3  
    ENSEMBL proteins: 
     ENSP00000380006   ENSP00000367756   ENSP00000367757  
    Reactome Protein details: O14795

    UNC13B Human Recombinant Protein Products:

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    Novus Biologicals UNC13B Protein
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UNC13B

     
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    antibodies-online proteins for UNC13B (2 products) 

     
    antibodies-online peptides for UNC13B

    UNC13B Antibody Products:

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    UNC13B Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR014772 Munc13_dom-2
     IPR019558 Munc13_subgr_dom-2
     IPR010439 Ca-dep_secretion_activator
     IPR014770 Munc13_1
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd

    Graphical View of Domain Structure for InterPro Entry O14795

    ProtoNet protein and cluster: O14795

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


    UniProtKB/Swiss-Prot: UN13B_HUMAN, O14795
    Domain: The C2 domains are not involved in calcium-dependent phospholipid binding (By similarity)
    Similarity: Belongs to the unc-13 family
    Similarity: Contains 3 C2 domains
    Similarity: Contains 1 MHD1 (MUNC13 homology domain 1) domain
    Similarity: Contains 1 MHD2 (MUNC13 homology domain 2) domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger


    Find genes that share domains with UNC13B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UN13B_HUMAN, O14795
    Function: Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger
    pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion
    and participates in the activity-depending refilling of readily releasable vesicle pool (RRP). Essential for
    synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By
    similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS10233166
    GO:0004872receptor activity TAS9607201
    GO:0005515protein binding IPI16138900
    GO:0019992diacylglycerol binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with UNC13B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UNC13B:
     Decreased viability 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Unc13b):
     behavior/neurological  mortality/aging  nervous system  no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with UNC13B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Unc13btm1Rmnd for UNC13B

       genOway: Develop your customized and physiologically relevant rodent model for UNC13B

    miRNA
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    miRTarBase miRNAs that target UNC13B:
    hsa-let-7b-5p (MIRT052137), hsa-mir-221-3p (MIRT046959), hsa-mir-375 (MIRT019776), hsa-mir-92a-3p (MIRT049246)

    Block miRNA regulation of human, mouse, rat UNC13B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UNC13B (see all 15):
    hsa-miR-607 hsa-miR-3688-3p hsa-miR-183 hsa-miR-3120-3p hsa-miR-29a hsa-miR-29c hsa-miR-545 hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidUNC13B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UNC13B

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    GenScript: all cDNA clones in your preferred vector: UNC13B (NM_006377)
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    (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
    UN13B_HUMAN, O14795: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Cell
    membrane (By similarity). Cell junction, synapse (By similarity). Note=Localized to synapses. Translocated to the
    plasma membrane in response to phorbol ester binding (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    cytosol2
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10233166
    GO:0005794Golgi apparatus IDA16138900
    GO:0005829cytosol IDA16138900
    GO:0005886plasma membrane IEA--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with UNC13B           About GenesLikeMe


    (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 UNC13B About    
    See pathways by source

    SuperPathContained pathways About
    1Neurotransmitter Release Cycle
    Effects of Botulinum toxin0.40
    Glutamate Neurotransmitter Release Cycle0.00
    Neurotransmitter Release Cycle0.32
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Monoamine Transport
    Monoamine Transport


    Find genes that share SuperPaths with UNC13B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for UNC13B
        Monoamine Transport
    Synaptic Vesicle Pathway
    Effects of Botulinum toxin

    1 Reactome Pathway for UNC13B
        Glutamate Neurotransmitter Release Cycle


    1 Kegg Pathway  (Kegg details for UNC13B):
        Synaptic vesicle cycle

        Pathway & Disease-focused RT2 Profiler PCR Array including UNC13B: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UNC13B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for UNC13B (O147952, 3 ENSP000003677564) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOE1Q96GM82, 3MINT-64603 I2D: score=4 
    CALM1P621583I2D: score=2 
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    DOC2AQ141833, ENSP000003400174I2D: score=2 STRING: ENSP00000340017
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS10233166
    GO:0007165signal transduction TAS9607201
    GO:0007268synaptic transmission ----
    GO:0007528neuromuscular junction development IEA--
    GO:0007588excretion TAS9607201

    Find genes that share ontologies with UNC13B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UNC13B (UN13B)

    Selected HMDB Compounds for UNC13B (see all 844)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    2 Novoseek inferred chemical compound relationships for UNC13B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 7.37 2 16391233 (1)
    calcium 0 7 17049382 (3), 15294163 (1)



    Find genes that share compounds with UNC13B           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UNC13B gene: 
    NM_006377.3  

    Unigene Cluster for UNC13B:

    Unc-13 homolog B (C. elegans)
    Hs.493791  [show with all ESTs]
    Unigene Representative Sequence: NM_006377
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396787(uc010mkl.1) ENST00000378495(uc003zwq.3 uc003zwr.3)
    ENST00000485086 ENST00000481299 ENST00000378496(uc010mkm.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate UNC13B (see all 15):
    hsa-miR-607 hsa-miR-3688-3p hsa-miR-183 hsa-miR-3120-3p hsa-miR-29a hsa-miR-29c hsa-miR-545 hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidUNC13B 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat UNC13B

    Additional mRNA sequence: 

    AB209998.1 AF020202.1 AK296836.1 BC111781.1 EF139849.1 

    7 DOTS entries:

    DT.416834  DT.95080227  DT.91724413  DT.121169826  DT.95080223  DT.95149438  DT.434084 

    Selected AceView cDNA sequences (see all 237):

    BE546304 BM790795 BU194552 BF433242 AI277944 AA344207 CA976179 AA987509 
    AI492883 AA229487 W04419 BM975986 AI754672 AW245437 CD237900 BQ959522 
    AU100322 CB215445 BE779431 BU189603 T63389 BF876634 AA825149 AW732229 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UNC13B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACAAGAAA
    UNC13B Expression
    About this image


    UNC13B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testis Somatic Cells Primitive Gonad
             Seminiferous Tubules
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
    UNC13B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UNC13B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.493791

    UniProtKB/Swiss-Prot: UN13B_HUMAN, O14795
    Tissue specificity: Expressed in kidney cortical epithelial cells and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including UNC13B: 
              Apoptosis 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for UNC13B gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc13b1 , 5 unc-13 homolog B (C. elegans)1, 5 91.05(n)1
    95.66(a)1
      4 (23.00 cM)5
    222491  NM_021468.21  NP_067443.21 
     430589535 
    chicken
    (Gallus gallus)
    Aves LOC1008587991 protein unc-13 homolog B-like 77.7(n)
    86.42(a)
      100858799  XM_004937127.1  XP_004937184.1 
    lizard
    (Anolis carolinensis)
    Reptilia UNC13B6
    unc-13 homolog B (C. elegans)
    64(a)
    1 ↔ 1
    GL343791.1(18124-227388)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003294991 protein unc-13 homolog B-like 72.15(n)
    77.48(a)
      100329499  XM_002663514.3  XP_002663560.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-136
    unc-13
    30(a)
    1 → many
    4(889296-925419)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-136
    Protein UNC-13, isoform d (unc-13) mRNA, complete ...
    40(a)
    1 → many
    I(7422785-7454088) WBGene00006752


    ENSEMBL Gene Tree for UNC13B (if available)
    TreeFam Gene Tree for UNC13B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UNC13B gene
    UNC13C2  RASGRP42  UNC13A2  RASGRP12  RASGRP22  RASGRP32  
    5 SIMAP similar genes for UNC13B using alignment to 5 protein entries:     UN13B_HUMAN (see all proteins):
    UNC13B variant protein    UNC13A    UNC13C    PRKD2    PRKCH

    Find genes that share paralogs with UNC13B           About GenesLikeMe



    (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 UNC13B (see all 4095)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0366154
    A colorectal cancer sample4--see VAR_0366152 P S mis40--------
    rs346123761,2
    C--35124230(+) TTTTTT/-GATAC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs123527901,2
    C,F,A--35128424(+) tagagA/Tcttgc 1 -- us2k17Minor allele frequency- T:0.29NA WA CSA 14
    rs1483910911,2
    --35128552(+) CCACCA/GTGCCT 1 -- us2k10--------
    rs1898968921,2
    --35128616(+) GCTGAG/TTCTCG 1 -- us2k10--------
    rs799836221,2
    C--35128621(-) GAGTTT/CGAGAC 1 -- us2k12Minor allele frequency- C:0.00NA 4
    rs1510337291,2
    --35128650(+) CACCTC/TGGCCT 1 -- us2k10--------
    rs1114498541,2
    F--35128754(+) GGTAAT/CGCAGA 1 -- us2k12Minor allele frequency- C:0.10CSA WA 120
    rs78753161,2
    C,F,H--35128789(+) ggtggA/Gagaaa 1 -- us2k1 trp34Minor allele frequency- G:0.07NS EA 414
    rs625431611,2
    C--35128911(+) CTGCGC/ACTCCT 1 -- us2k12Minor allele frequency- A:0.10NA EA 122

    HapMap Linkage Disequilibrium report for UNC13B (35161989 - 35405335 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UNC13B (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738406CNV Deletion23290073
    dgv1309e201CNV Deletion23290073
    nsv821068CNV Deletion20802225
    esv2738397CNV Deletion23290073
    esv2738405CNV Deletion23290073
    esv2742064CNV Deletion23290073
    esv2738394CNV Deletion23290073
    esv2738403CNV Deletion23290073
    esv2738408CNV Deletion23290073
    esv2738395CNV Deletion23290073

    Human Gene Mutation Database (HGMD): UNC13B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC13B
    DNA2.0 Custom Variant and Variant Library Synthesis for UNC13B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605836    OMIM disorders: --

    1 disease for UNC13B:    
    About MalaCards
    hyperglycemia

    1 disease from the University of Copenhagen DISEASES database for UNC13B:
    Hemophagocytic lymphohistiocytosis

    Find genes that share disorders with UNC13B           About GenesLikeMe

    Genetic Association Database (GAD): UNC13B
    Human Genome Epidemiology (HuGE) Navigator: UNC13B (3 documents)

    Export disorders for UNC13B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UNC13B gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with UNC13B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy. (PubMed id 9607201)1, 2, 3 Song Y.... Silverman M. (Kidney Int. 1998)
    2. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. (PubMed id 21812969)1, 4 Liu X....Lee J.H. (BMC Med. Genet. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes. (PubMed id 18633107)1, 4 TrAcgouet D.A....Vionnet N. (Diabetes 2008)
    5. Human munc13 is a diacylglycerol receptor that induces apoptosis and may contribute to renal cell injury in hyperglycemia. (PubMed id 10233166)1, 2 Song Y.... Silverman M. (Mol. Biol. Cell 1999)
    6. Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery. (PubMed id 9195900)1, 9 Orita S....Takai Y. (J. Biol. Chem. 1997)
    7. Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry. (PubMed id 19492809)1, 9 Dimova K....Jahn O. (Biochemistry 2009)
    8. The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis. (PubMed id 14593078)1, 9 Cheviet S....Regazzi R. (Mol. Endocrinol. 2004)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 10497 HGNC: 12566 AceView: UNC13B Ensembl:ENSG00000198722 euGenes: HUgn10497
    ECgene: UNC13B Kegg: 10497 H-InvDB: UNC13B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UNC13B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UNC13B gene:
    Search GeneIP for patents involving UNC13B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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