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UNC13C Gene

protein-coding   GIFtS: 50
GCID: GC15P054305

Unc-13 Homolog C (C. Elegans)

  See UNC13C-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)
About This Section


Aliases
Unc-13 Homolog C (C. Elegans)1 2
Munc13-32 3
Protein Unc-13 Homolog C2
Unc-13-Like 32

External Ids:    HGNC: 231491   Entrez Gene: 4402792   Ensembl: ENSG000001377667   OMIM: 6145685   UniProtKB: Q8NB663   

Export aliases for UNC13C gene to outside databases

Previous GC identifers: GC15P052243 GC15P052015 GC15P052314 GC15P031136


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


GeneCards Summary for UNC13C Gene:
UNC13C (unc-13 homolog C (C. elegans)) is a protein-coding gene. Diseases associated with UNC13C include infantile epileptic encephalopathy. GO annotations related to this gene include diacylglycerol binding. An important paralog of this gene is RASGRP4.

UniProtKB/Swiss-Prot: UN13C_HUMAN, Q8NB66
Function: May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second
messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell
synapses (By similarity)




(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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UNC13C gene promoter:
         SRF   SRF (504 AA)   MEF-2   CUTL1   C/EBPalpha   MEF-2A   aMEF-2   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for UNC13C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UNC13C


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

Entrez Gene cytogenetic band: 15q21.3   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q21.3

UNC13C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC13C gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P054305:  view genomic region     (about GC identifiers)

Start:
54,305,101 bp from pter      End:
54,920,806 bp from pter
Size:
615,706 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, antibodies-online, and/or GeneTex,
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.)
About This Section


UniProtKB/Swiss-Prot: UN13C_HUMAN, Q8NB66 (See protein sequence)
Recommended Name: Protein unc-13 homolog C  
Size: 2214 amino acids; 250911 Da
Subunit: Interacts with STX1A and/or STX1B1, VAMP2 and SNAP25 (By similarity)
Sequence caution: Sequence=AAH40740.1; Type=Erroneous initiation; Sequence=BAB70836.1; Type=Erroneous initiation;
Sequence=BAC03675.1; Type=Erroneous initiation; Sequence=BAC03675.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
Secondary accessions: Q0P613 Q8ND48 Q96NP3

Explore the universe of human proteins at neXtProt for UNC13C: NX_Q8NB66

Explore proteomics data for UNC13C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UNC13C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001074003.1  
    ENSEMBL proteins: 
     ENSP00000260323   ENSP00000453018   ENSP00000443886   ENSP00000456350   ENSP00000438156  
     ENSP00000442569  

    UNC13C Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for UNC13C
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UNC13C

     
    Search eBioscience for Proteins for UNC13C 

     
    Search GeneTex for Proteins for UNC13C 

     
    Search antibodies-online for proteins for UNC13C 

     
    Search antibodies-online for peptides for UNC13C

    UNC13C Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for UNC13C
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    antibodies-online antibodies for UNC13C 

    UNC13C Assay Products:

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    Cloud-Clone Corp. ELISAs for UNC13C
    Cloud-Clone Corp. CLIAs for UNC13C
    Search eBioscience for ELISAs for UNC13C 
    antibodies-online kits for UNC13C (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    Selected InterPro protein domains (see all 8):
     IPR014772 Munc13_dom-2
     IPR019558 Munc13_subgr_dom-2
     IPR027087 Unc13C
     IPR010439 Ca-dep_secretion_activator
     IPR014770 Munc13_1

    Graphical View of Domain Structure for InterPro Entry Q8NB66

    ProtoNet protein and cluster: Q8NB66

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


    UniProtKB/Swiss-Prot: UN13C_HUMAN, Q8NB66
    Domain: The C2 domains are not involved in calcium-dependent phospholipid binding (By similarity)
    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
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger


    Find genes that share domains with UNC13C           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, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UN13C_HUMAN, Q8NB66
    Function: May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second
    messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell
    synapses (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019992diacylglycerol binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with UNC13C           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UNC13C:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Unc13c):
     behavior/neurological  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with UNC13C           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Unc13ctm1Bros for UNC13C

       genOway: Develop your customized and physiologically relevant rodent model for UNC13C

    miRNA
    Products:
        
    miRTarBase miRNAs that target UNC13C:
    hsa-mir-128-3p (MIRT021903)

    Block miRNA regulation of human, mouse, rat UNC13C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UNC13C (see all 38):
    hsa-miR-582-3p hsa-miR-4328 hsa-miR-513a-5p hsa-miR-1224-3p hsa-miR-128 hsa-miR-1260b hsa-miR-138-2* hsa-miR-507
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UNC13C
    Predesigned siRNA for gene silencing in human, mouse, rat UNC13C

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UNC13C

    Clone
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    OriGene clones in human, mouse for UNC13C (see all 5)
    OriGene ORF clones in mouse, rat for UNC13C
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UNC13C (NM_001080534)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNC13C
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat UNC13C

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for UNC13C 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13C


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    UN13C_HUMAN, Q8NB66: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Cell
    junction, synapse, presynaptic cell membrane; Peripheral membrane protein (By similarity). Note=Localized to
    presynaptic structures (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol2
    nucleus2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0030054cell junction IEA--
    GO:0042734presynaptic membrane IEA--

    Find genes that share ontologies with UNC13C           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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for UNC13C About    
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50


    Find genes that share SuperPaths with UNC13C           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UNC13C
        Synaptic Vesicle Pathway


    1 Kegg Pathway  (Kegg details for UNC13C):
        Synaptic vesicle cycle

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UNC13C
    Interactions:

        Search GeneGlobe Interaction Network for UNC13C

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for UNC13C (ENSP000002603234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCAM1ENSP000003184724STRING: ENSP00000318472
    STXBP1ENSP000003623994STRING: ENSP00000362399
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006887exocytosis IEA--
    GO:0007268synaptic transmission IEA--
    GO:0035556intracellular signal transduction IEA--

    Find genes that share ontologies with UNC13C           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, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UNC13C (UN13C)

    Selected HMDB Compounds for UNC13C (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)----



    (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 )
    About This Section


    REFSEQ mRNAs for UNC13C gene (3 alternative transcripts): 
    NM_001080534.1  XM_005254394.2  XM_005254395.2  

    Unigene Cluster for UNC13C:

    Unc-13 homolog C (C. elegans)
    Hs.657273  [show with all ESTs]
    Unigene Representative Sequence: NM_001080534
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260323 ENST00000561210(uc002acl.3) ENST00000559093 ENST00000539562
    ENST00000560537 ENST00000545554 ENST00000537900(uc021smr.1 uc021sms.1 uc002acm.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UNC13C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UNC13C (see all 38):
    hsa-miR-582-3p hsa-miR-4328 hsa-miR-513a-5p hsa-miR-1224-3p hsa-miR-128 hsa-miR-1260b hsa-miR-138-2* hsa-miR-507
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Clone
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    OriGene ORF clones in mouse, rat for UNC13C
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UNC13C (NM_001080534)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNC13C
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat UNC13C
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for UNC13C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC13C
      QuantiTect SYBR Green Assays in human, mouse, rat UNC13C
      QuantiFast Probe-based Assays in human, mouse, rat UNC13C

    Additional mRNA sequence: 

    AK054981.1 AK091491.1 AK293996.1 AL834407.1 BC036420.2 BC039494.1 BC040740.1 

    7 DOTS entries:

    DT.97796317  DT.97825756  DT.97819609  DT.403172  DT.121050572  DT.121050586  DT.406592 

    1 AceView cDNA sequence:

    AV729518 

    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 GenesLikeMe, 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

    UNC13C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UNC13C Expression
    About this image


    UNC13C 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
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
    UNC13C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UNC13C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657273

    UniProtKB/Swiss-Prot: UN13C_HUMAN, Q8NB66
    Tissue specificity: Exclusively expressed in brain

        Custom PCR Arrays for UNC13C
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    QuantiFast Probe-based Assays in human, mouse, rat UNC13C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC13C

    (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 UNC13C gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc13c1 , 5 unc-13 homolog C (C. elegans)1, 5 85.36(n)1
    91.38(a)1
      9 (40.80 cM)5
    2088981  NM_001081153.11  NP_001074622.11 
     734794225 
    chicken
    (Gallus gallus)
    Aves UNC13C1 unc-13 homolog C (C. elegans) 77.85(n)
    81.13(a)
      415413  XM_413798.4  XP_413798.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    75(a)
    73(a)
    1 ↔ many
    1 ↔ many
    AAWZ02036658(13482-21753)
    GL344218.1(2986-46208)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia unc13c1 unc-13 homolog C (C. elegans) 74.76(n)
    78.39(a)
      100494605  XM_002936342.2  XP_002936388.1 
    zebrafish
    (Danio rerio)
    Actinopterygii UNC13C (3 of 4)6
    UNC13C (4 of 4)6
    (see all 4)
    unc-13 homolog C (C. elegans)
    (see all 4)
    84(a)
    84(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    18(1865111-1942404) ENSDARG00000087669
    Zv9_NA492(169-45066) ENSDARG00000087946
    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 ...
    38(a)
    1 → many
    I(7422785-7454088) WBGene00006752


    ENSEMBL Gene Tree for UNC13C (if available)
    TreeFam Gene Tree for UNC13C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for UNC13C gene
    RASGRP42  UNC13A2  RASGRP12  RASGRP22  UNC13B2  RASGRP32  
    4 SIMAP similar genes for UNC13C using alignment to 6 protein entries:     UN13C_HUMAN (see all proteins):
    UNC13B variant protein    UNC13B    UNC13A    PRKCH

    Find genes that share paralogs with UNC13C           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)
    About This Section


    Selected SNPs for UNC13C (see all 14489)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1905223231,2
    Cuntested154872333(+) ACCACA/GCCTGT 1 -- int10--------
    rs353581971,2
    C--31444457(+) CAAAC-/AT/TA 
            
    TTACA
    1 -- int11NA 2
    rs560165061,2
    C--31488324(+) CCCCC-/C/CC  
            
    AAGAA
    1 -- int11NA 2
    rs358656721,2
    C--31717510(+) TTGCA-/CT/TC 
            
    TGTCC
    1 -- int11CSA 2
    rs611353671,2
    C--34421701(+) AAAAA-/A/AA  
            
    GGAAT
    1 -- int11NA 2
    rs616863971,2
    C--34460688(+) AAAAA-/AA/AAA
            
    TTAAA
    1 -- int11NA 2
    rs351230311,2
    C--34488414(+) ATTTA-/ATATATA 1 -- int10--------
    rs106467011,2
    C--34635250(+) tagac-/TT/TT 
    TT
    /TTTTT
    ttttt
    1 -- int1 trp30--------
    rs711328021,2
    C--34680996(-) ATGTA-/ATAGTTT 1 -- int11Minor allele frequency- AT:0.00NA 2
    rs348602151,2
    C--34963053(+) CTGAA-/CAGGCAA 1 -- int11Minor allele frequency- CA:0.00NA 2

    HapMap Linkage Disequilibrium report for UNC13C (54305101 - 54555101 bp, first 250kb of UNC13C)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UNC13C (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749714CNV Deletion23290073
    esv2673108CNV Deletion23128226
    esv2345390CNV Deletion18987734
    esv2213619CNV Deletion18987734
    esv2749711CNV Deletion23290073
    dgv449e199CNV Deletion23128226
    esv2668605CNV Deletion23128226
    esv2749715CNV Deletion23290073
    esv2749712CNV Deletion23290073
    esv2749713CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC13C
    DNA2.0 Custom Variant and Variant Library Synthesis for UNC13C

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 614568    OMIM disorders: --

    1 disease for UNC13C:    
    About MalaCards
    infantile epileptic encephalopathy


    Find genes that share disorders with UNC13C           About GenesLikeMe

    Genetic Association Database (GAD): UNC13C
    Human Genome Epidemiology (HuGE) Navigator: UNC13C (3 documents)

    Export disorders for UNC13C 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 UNC13C gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with UNC13C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    5. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)1, 4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    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. Genome-wide association study of age at menarche in African-American women. (PubMed id 23599027)1 Demerath E.W....Haiman C.A. (Hum. Mol. Genet. 2013)
    8. De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP. (PubMed id 22365152)2 Veeramah K.R.... Hammer M.F. (Am. J. Hum. Genet. 2012)
    9. Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470)1 Ovsyannikova I.G....Poland G.A. (Vaccine 2012)
    10. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)4 Ramsuran V....Ndung'u T. (Clin. Infect. Dis. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 440279 HGNC: 23149 AceView: LOC440279 Ensembl:ENSG00000137766 euGenes: HUgn440279
    ECgene: UNC13C Kegg: 440279 H-InvDB: UNC13C

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for UNC13C 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 UNC13C gene:
    Search GeneIP for patents involving UNC13C

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



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