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

UNC13B Gene

protein-coding   GIFtS: 63
GCID: GC09P035117

Unc-13 Homolog B (C. Elegans)

(Previous name: unc-13-like (C. elegans))
(Previous symbol: UNC13)
Alzheimer's & Parkinson's Diseases Congress
  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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and hemophagocytic lymphohistiocytosis, and among its related super-pathways are Synaptic Vesicle Pathway and Acetylcholine Neurotransmitter Release Cycle. GO annotations related to this gene include receptor activity 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UNC13B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: 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)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14795

  • UNC13B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UNC13B Protein Expression
    REFSEQ proteins: NP_006368.3  
    ENSEMBL proteins: 
     ENSP00000380006   ENSP00000367756   ENSP00000367757  

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10233166
    GO:0005794Golgi apparatus TAS9607201
    GO:0005886plasma membrane IEA--
    GO:0030054cell junction IEA--
    GO:0031594neuromuscular junction IEA--

    UNC13B 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
    5/10 InterPro protein domains (see all 10):
     IPR014772 Munc13_dom-2
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR010439 Ca-dep_secretion_activator
     IPR019558 Munc13_subgr_dom-2
     IPR014770 Munc13_1

    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


    UNC13B 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS10233166
    GO:0004872receptor activity TAS9607201
    GO:0005515protein binding ----
    GO:0019992diacylglycerol binding IEA--
    GO:0046872metal ion binding IEA--
         
    UNC13B for ontologies           About GeneDecksing


    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 

    UNC13B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Unc13btm1Rmnd for UNC13B

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UNC13B 
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    SwitchGear 3'UTR luciferase reporter plasmidUNC13B 3' UTR sequence
    Inhib. RNA
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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 UNC13B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    2Serotonin Neurotransmitter Release Cycle
    Effects of Botulinum toxin0.43
    3Monoamine Transport
    Monoamine Transport

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


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


    UNC13B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UNC13B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/20 Interacting proteins for UNC13B (O147952, 3 ENSP000003677564) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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): 5/11 biological process terms (GO ID links to tree view) (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

    UNC13B 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

    UNC13B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UNC13B (UN13B)

    10/844 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)

    Search CenterWatch for drugs/clinical trials and news about UNC13B / UN13B

    (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 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)

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    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
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    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 

    24/237 AceView cDNA sequences (see all 237):

    BU860179 CD656014 CD652087 BI520176 AW083760 CB306468 AL602627 NM_006377 
    BU727038 BE546304 BM790795 BU194552 BF433242 BM795218 AI378613 BU732555 
    BU500556 BI039209 AI264776 AU124424 CD622535 AA487105 AA603088 AI272819 

    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

    UNC13B expression in normal human tissues (normalized intensities)      UNC13B embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testis Somatic Cells Primitive Gonad
             Seminiferous Tubules
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Hypothalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod

    See UNC13B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UNC13B

    SOURCE GeneReport for Unigene cluster: Hs.493791

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

        SABiosciences Expression via Pathway-Focused PCR Array including UNC13B: 
              Apoptosis 384HT in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for UNC13B gene from 5/11 species (see all 11)    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 UNC13B6
    unc-13 homolog B (C. elegans)
    85(a)
    1 ↔ 1
    Z(8532115-8713636)
    lizard
    (Anolis carolinensis)
    Reptilia UNC13B6
    --
    Uncharacterized protein
    60(a)
    40(a)
    1 ↔ 1
    possible ortholog
    GL343791.1(18124-227388)
    AAWZ02037713(981-13949)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003294991 uncharacterized LOC100329499 72.15(n)
    77.82(a)
      100329499  XM_002663514.2  XP_002663560.2 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-131 Protein UNC-13 54.98(n)
    55.95(a)
      172497  NM_001026703.1  NP_001021874.1 


    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)
    About This Section
    Paralogs for UNC13B gene
    UNC13C2  UNC13A2  
    5 SIMAP similar genes for UNC13B using alignment to 5 protein entries:     UN13B_HUMAN (see all proteins):
    UNC13B variant protein    UNC13A    UNC13C    PRKD2    PRKCH

    UNC13B 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

    10/4095 SNPs in UNC13B are shown (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) 10/24 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605836    OMIM disorders: --

    6 diseases for UNC13B:    About MalaCards
    hyperglycemia    hemophagocytic lymphohistiocytosis    type 1 diabetes    parkinson's disease
    pancreatitis    neuronitis

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

    UNC13B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for UNC13B gene, integrated from 9 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. (1998)
    2. Genome-wide association study identifies candidate gen es for Parkinson's disease in an Ashkenazi Jewish population. (PubMed id 21812969)1, 4 Liu X....Lee J.H. (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. (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 Tregouet D.A....Vionnet N. (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. (1999)
    6. Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery. (PubMed id 9195900)1, 9 Orita S....Takai Y. (1997)
    7. Structural insights into the calmodulin-Munc13 intera ction obtained by cross-linking and mass spectrometry. (PubMed id 19492809)1, 9 Dimova K....Jahn O. (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. (2004)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (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. (2012)

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

      Query String
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    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: 10497 HGNC: 12566 AceView: UNC13B Ensembl:ENSG00000198722 euGenes: HUgn10497
    ECgene: UNC13B Kegg: 10497 H-InvDB: UNC13B

    (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 UNC13B 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 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



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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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