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Aliases for UNC13C Gene

Aliases for UNC13C Gene

  • Unc-13 Homolog C (C. Elegans) 2 3
  • 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 (C. Elegans)) is a Protein Coding gene. Diseases associated with UNC13C include infantile epileptic encephalopathy. Among its related pathways are Synaptic vesicle cycle and Synaptic vesicle cycle. GO annotations related to this gene include diacylglycerol binding. An important paralog of this gene is RASGRP3.

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

Genomic Location for UNC13C Gene

Start:
53,978,362 bp from pter
End:
54,633,414 bp from pter
Size:
655,053 bases
Orientation:
Plus strand

Genomic View for UNC13C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for UNC13C Gene at MOPED

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 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 :
  • Q8NB66
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

No data available for Gene Families for UNC13C Gene

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:0005515 protein binding --
GO:0019992 diacylglycerol binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UNC13C: view

Phenotypes for UNC13C Gene

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

Animal Models for UNC13C Gene

MGI Knock Outs for UNC13C:

miRNA for UNC13C Gene

miRTarBase miRNAs that target UNC13C

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 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 for UNC13C Gene via STRING

Gene Ontology (GO) - Biological Process for UNC13C Gene

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

Compounds for UNC13C Gene

(844) HMDB Compounds for UNC13C Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available
DG(14:0/16:0/0:0)
  • DAG(30:0)
Not Available
genes like me logo Genes that share compounds with UNC13C: view

Transcripts for UNC13C Gene

mRNA/cDNA for UNC13C Gene

(7) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(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:

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 (9.0), Brain - Amygdala (6.7), Brain - Cerebellum (6.6), Brain - Cortex (6.0), Brain - Anterior cingulate cortex (BA24) (5.4), and Brain - Frontal Cortex (BA9) (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for UNC13C Gene

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 expressions with UNC13C: view

Orthologs for UNC13C Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC13C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNC13C 35
  • 99.58 (n)
  • 99.5 (a)
UNC13C 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UNC13C 35
  • 91.41 (n)
  • 93.58 (a)
UNC13C 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNC13C 35
  • 92.26 (n)
  • 94.72 (a)
UNC13C 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Unc13c 35
  • 85.36 (n)
  • 91.38 (a)
Unc13c 16
Unc13c 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UNC13C 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNC13C 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Unc13c 35
  • 85.41 (n)
  • 91.14 (a)
chicken
(Gallus gallus)
Aves UNC13C 35
  • 77.85 (n)
  • 81.13 (a)
UNC13C 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 75 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia unc13c 35
  • 74.76 (n)
  • 78.39 (a)
zebrafish
(Danio rerio)
Actinopterygii unc13c 36
  • 73 (a)
OneToMany
UNC13C (1 of 4) 36
  • 56 (a)
OneToMany
UNC13C (3 of 4) 36
  • 84 (a)
OneToMany
UNC13C (4 of 4) 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta unc-13 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-13 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for UNC13C:
  • 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

Selected 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 MAF
rs472202 -- 54,400,882(+) TCTCC(C/T)AATGT intron-variant
rs472203 -- 54,400,884(+) TCCTA(A/G)TGTTA intron-variant
rs472338 -- 54,389,944(+) GGCTG(C/G)TCTCC intron-variant
rs473676 -- 54,489,035(+) TGATA(A/T)GACAA intron-variant
rs474879 -- 54,495,788(+) TGGGG(A/G)GCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2383n71 CNV Gain 21882294
nsv904226 CNV Gain 21882294
dgv318n27 CNV Gain 19166990
nsv833011 CNV Gain+Loss 17160897
nsv904229 CNV Gain 21882294
nsv833012 CNV Gain+Loss 17160897
esv2345390 CNV Deletion 18987734
esv2749711 CNV Deletion 23290073
esv2749712 CNV Deletion 23290073
nsv507782 CNV Insertion 20534489
nsv523769 CNV Loss 19592680
esv2673108 CNV Deletion 23128226
nsv827336 CNV Loss 20364138
esv270398 CNV Insertion 20981092
esv274387 CNV Insertion 20981092
nsv457149 CNV Loss 19166990
esv2749713 CNV Deletion 23290073
esv28137 CNV Gain 19812545
nsv518871 CNV Gain 19592680
esv25316 CNV Loss 19812545
esv2213619 CNV Deletion 18987734
esv2749714 CNV Deletion 23290073
esv2749715 CNV Deletion 23290073
dgv2385n71 CNV Loss 21882294
dgv148n21 CNV Gain 19592680
esv275383 CNV Loss 21479260
nsv904236 CNV Loss 21882294
esv1445536 CNV Insertion 17803354
nsv526413 CNV Gain 19592680
nsv904237 CNV Loss 21882294
esv28394 CNV Loss 19812545
dgv449e199 CNV Deletion 23128226
esv2668605 CNV Deletion 23128226
esv997408 CNV Insertion 20482838
nsv94299 CNV Insertion 16902084
esv1281044 CNV Insertion 17803354
nsv904238 CNV Loss 21882294

Relevant External Links for UNC13C Gene

HapMap Linkage Disequilibrium report
UNC13C
Human Gene Mutation Database (HGMD)
UNC13C

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

Disorders for UNC13C Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for UNC13C Gene including...

Search for UNC13C Gene in MalaCards »

Relevant External Links for UNC13C

Genetic Association Database (GAD)
UNC13C
Human Genome Epidemiology (HuGE) Navigator
UNC13C
genes like me logo Genes that share disorders with UNC13C: view

No data available for UniProtKB/Swiss-Prot for UNC13C Gene

Publications for UNC13C Gene

  1. 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 48
  2. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 48
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48
  4. 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 48
  5. 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 48

Products for UNC13C Gene

Sources for UNC13C Gene

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