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Aliases for UNC13C Gene

Aliases for UNC13C Gene

  • Unc-13 Homolog C 2 3
  • Unc-13 Homolog C (C. Elegans) 2 5
  • Munc13-3 3 4
  • Protein Unc-13 Homolog C 3
  • Unc-13-Like 3 3

External Ids for UNC13C Gene

Previous GeneCards Identifiers for UNC13C Gene

  • GC15P052243
  • GC15P052015
  • GC15P052314
  • GC15P054305
  • GC15P031136

Summaries for UNC13C Gene

GeneCards Summary for UNC13C Gene

UNC13C (Unc-13 Homolog C) is a Protein Coding gene. Among its related pathways are Synaptic vesicle cycle. GO annotations related to this gene include diacylglycerol binding. An important paralog of this gene is UNC13A.

UniProtKB/Swiss-Prot for UNC13C Gene

  • 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC13C Gene

Genomics for UNC13C Gene

Regulatory Elements for UNC13C Gene

Enhancers for UNC13C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around UNC13C on UCSC Golden Path with GeneCards custom track

Genomic Location for UNC13C Gene

Chromosome:
15
Start:
53,978,203 bp from pter
End:
54,633,414 bp from pter
Size:
655,212 bases
Orientation:
Plus strand

Genomic View for UNC13C Gene

Genes around UNC13C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC13C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC13C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC13C Gene

Proteins for UNC13C Gene

  • Protein details for UNC13C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NB66-UN13C_HUMAN
    Recommended name:
    Protein unc-13 homolog C
    Protein Accession:
    Q8NB66
    Secondary Accessions:
    • Q0P613
    • Q8ND48
    • Q96NP3

    Protein attributes for UNC13C Gene

    Size:
    2214 amino acids
    Molecular mass:
    250911 Da
    Quaternary structure:
    • Interacts with STX1A and/or STX1B1, VAMP2 and SNAP25.
    SequenceCaution:
    • Sequence=AAH40740.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB70836.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC03675.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC03675.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

neXtProt entry for UNC13C Gene

Post-translational modifications for UNC13C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UNC13C Gene

No data available for DME Specific Peptides for UNC13C Gene

Domains & Families for UNC13C Gene

Gene Families for UNC13C Gene

Suggested Antigen Peptide Sequences for UNC13C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NB66

UniProtKB/Swiss-Prot:

UN13C_HUMAN :
  • The C2 domains are not involved in calcium-dependent phospholipid binding.
  • Belongs to the unc-13 family.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • The C2 domains are not involved in calcium-dependent phospholipid binding.
  • Contains 2 C2 domains.
  • Contains 1 MHD1 (MUNC13 homology domain 1) domain.
  • Contains 1 MHD2 (MUNC13 homology domain 2) domain.
Family:
  • Belongs to the unc-13 family.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with UNC13C: view

Function for UNC13C Gene

Molecular function for UNC13C Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for UNC13C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019992 diacylglycerol binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UNC13C: view
genes like me logo Genes that share phenotypes with UNC13C: view

Animal Models for UNC13C Gene

MGI Knock Outs for UNC13C:

Animal Model Products

CRISPR Products

miRNA for UNC13C Gene

miRTarBase miRNAs that target UNC13C

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UNC13C Gene

Localization for UNC13C Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC13C Gene

Cytoplasm. Membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein. Note=Localized to presynaptic structures. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UNC13C Gene COMPARTMENTS Subcellular localization image for UNC13C gene
Compartment Confidence
plasma membrane 3
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for UNC13C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane ISS --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IEA --
GO:0048786 presynaptic active zone TAS 15217342
genes like me logo Genes that share ontologies with UNC13C: view

Pathways & Interactions for UNC13C Gene

SuperPathways for UNC13C Gene

genes like me logo Genes that share pathways with UNC13C: view

Pathways by source for UNC13C Gene

1 BioSystems pathway for UNC13C Gene
1 KEGG pathway for UNC13C Gene

Interacting Proteins for UNC13C Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000260323%0d%0a9606.ENSP00000384892%0d%0a9606.ENSP00000334319%0d%0a9606.ENSP00000362399%0d%0a9606.ENSP00000221283%0d%0a
Selected Interacting proteins: ENSP00000260323 Q8NB66-UN13C_HUMAN for UNC13C Gene via STRING IID

Gene Ontology (GO) - Biological Process for UNC13C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0007268 chemical synaptic transmission IEA,ISS --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with UNC13C: view

No data available for SIGNOR curated interactions for UNC13C Gene

Drugs & Compounds for UNC13C Gene

(1) Drugs for UNC13C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(4) Additional Compounds for UNC13C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with UNC13C: view

Transcripts for UNC13C Gene

mRNA/cDNA for UNC13C Gene

(9) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UNC13C Gene

Unc-13 homolog C (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC13C Gene

No ASD Table

Relevant External Links for UNC13C Gene

GeneLoc Exon Structure for
UNC13C
ECgene alternative splicing isoforms for
UNC13C

Expression for UNC13C Gene

mRNA expression in normal human tissues for UNC13C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UNC13C Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.0), Brain - Amygdala (x6.7), Brain - Cerebellum (x6.6), Brain - Cortex (x6.0), Brain - Anterior cingulate cortex (BA24) (x5.4), and Brain - Frontal Cortex (BA9) (x4.7).

Protein differential expression in normal tissues from HIPED for UNC13C Gene

This gene is overexpressed in Liver, secretome (42.8) and Tlymphocyte (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UNC13C Gene



Protein tissue co-expression partners for UNC13C Gene

NURSA nuclear receptor signaling pathways regulating expression of UNC13C Gene:

UNC13C

SOURCE GeneReport for Unigene cluster for UNC13C Gene:

Hs.657273

mRNA Expression by UniProt/SwissProt for UNC13C Gene:

Q8NB66-UN13C_HUMAN
Tissue specificity: Exclusively expressed in brain.
genes like me logo Genes that share expression patterns with UNC13C: view

Primer Products

Orthologs for UNC13C Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC13C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UNC13C 34
  • 91.41 (n)
  • 93.58 (a)
UNC13C 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNC13C 34
  • 92.26 (n)
  • 94.72 (a)
UNC13C 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Unc13c 34
  • 85.36 (n)
  • 91.38 (a)
Unc13c 16
Unc13c 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UNC13C 34
  • 99.58 (n)
  • 99.5 (a)
UNC13C 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Unc13c 34
  • 85.41 (n)
  • 91.14 (a)
oppossum
(Monodelphis domestica)
Mammalia UNC13C 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNC13C 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNC13C 34
  • 77.85 (n)
  • 81.13 (a)
UNC13C 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia unc13c 34
  • 74.76 (n)
  • 78.39 (a)
zebrafish
(Danio rerio)
Actinopterygii unc13c 35
  • 73 (a)
OneToMany
UNC13C (1 of 4) 35
  • 56 (a)
OneToMany
UNC13C (3 of 4) 35
  • 84 (a)
OneToMany
UNC13C (4 of 4) 35
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta unc-13 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-13 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
Species where no ortholog for UNC13C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC13C Gene

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

Paralogs for UNC13C Gene

Paralogs for UNC13C Gene

(4) SIMAP similar genes for UNC13C Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with UNC13C: view

Variants for UNC13C Gene

Sequence variations from dbSNP and Humsavar for UNC13C Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs17731958 - 54,015,728(+) AACAT(C/T)AGCTG reference, missense
rs12437941 - 54,014,728(+) ATGGA(A/G)GTGTT reference, missense
rs149448818 - 54,013,815(+) AGAGA(C/G)ATCCA reference, missense
rs146433220 - 54,627,055(+) TGATG(C/T)GGCTA reference, missense
rs2616878 -- 53,980,770(-) TACCT(A/C/T)GTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UNC13C Gene

Variant ID Type Subtype PubMed ID
dgv1213n106 CNV deletion 24896259
dgv148n21 CNV gain 19592680
dgv318n27 CNV gain 19166990
dgv449e199 CNV deletion 23128226
dgv4531n54 CNV gain 21841781
dgv4539n54 CNV loss 21841781
dgv4540n54 CNV gain+loss 21841781
dgv4541n54 CNV loss 21841781
dgv4542n54 CNV loss 21841781
dgv4543n54 CNV loss 21841781
esv1281044 CNV insertion 17803354
esv1445536 CNV insertion 17803354
esv2213619 CNV deletion 18987734
esv2345390 CNV deletion 18987734
esv25316 CNV loss 19812545
esv2668605 CNV deletion 23128226
esv2673108 CNV deletion 23128226
esv2749711 CNV deletion 23290073
esv2749712 CNV deletion 23290073
esv2749713 CNV deletion 23290073
esv2749714 CNV deletion 23290073
esv2749715 CNV deletion 23290073
esv275383 CNV loss 21479260
esv2761899 CNV gain+loss 21179565
esv28137 CNV gain 19812545
esv28394 CNV loss 19812545
esv3310438 CNV novel sequence insertion 20981092
esv3325584 CNV insertion 20981092
esv3337275 CNV insertion 20981092
esv3430302 CNV insertion 20981092
esv3552466 CNV deletion 23714750
esv3552472 CNV deletion 23714750
esv3569587 CNV gain 25503493
esv3581710 CNV loss 25503493
esv3636528 CNV gain 21293372
esv3636529 CNV loss 21293372
esv3636530 CNV loss 21293372
esv3636532 CNV loss 21293372
esv3636533 CNV loss 21293372
esv3636534 CNV gain 21293372
esv3636536 CNV loss 21293372
esv3636537 CNV loss 21293372
esv3636538 CNV loss 21293372
esv3636539 CNV loss 21293372
esv3892694 CNV gain 25118596
esv997408 CNV insertion 20482838
nsv1037176 CNV gain 25217958
nsv1038660 CNV loss 25217958
nsv1039548 CNV loss 25217958
nsv1041282 CNV loss 25217958
nsv1043600 CNV gain 25217958
nsv1043823 CNV gain 25217958
nsv1070274 CNV deletion 25765185
nsv457149 CNV loss 19166990
nsv472680 CNV novel sequence insertion 20440878
nsv507782 OTHER sequence alteration 20534489
nsv518871 CNV gain 19592680
nsv523769 CNV loss 19592680
nsv526413 CNV gain 19592680
nsv569491 CNV gain 21841781
nsv569493 CNV loss 21841781
nsv569494 CNV loss 21841781
nsv569498 CNV loss 21841781
nsv569499 CNV gain 21841781
nsv569503 CNV loss 21841781
nsv569505 CNV gain+loss 21841781
nsv569507 CNV loss 21841781
nsv569508 CNV loss 21841781
nsv569509 CNV loss 21841781
nsv569515 CNV loss 21841781
nsv569517 CNV loss 21841781
nsv569518 CNV loss 21841781
nsv827336 CNV loss 20364138
nsv833011 CNV gain+loss 17160897
nsv833012 CNV gain+loss 17160897
nsv94299 CNV insertion 16902084
nsv984072 CNV duplication 23825009

Variation tolerance for UNC13C Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.90; 93.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UNC13C Gene

Human Gene Mutation Database (HGMD)
UNC13C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC13C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC13C Gene

Disorders for UNC13C Gene

Relevant External Links for UNC13C

Genetic Association Database (GAD)
UNC13C
Human Genome Epidemiology (HuGE) Navigator
UNC13C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC13C

No disorders were found for UNC13C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UNC13C Gene

Publications for UNC13C Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 65
  3. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need A.C. … Goldstein D.B. (Hum. Mol. Genet. 2009) 3 46 65
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 46 65
  5. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PMID: 17903293) Benjamin E.J. … Vasan R.S. (BMC Med. Genet. 2007) 3 46 65

Products for UNC13C Gene

Sources for UNC13C Gene

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