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Aliases for UNC13B Gene

Aliases for UNC13B Gene

  • Unc-13 Homolog B (C. Elegans) 2 3
  • MUNC13 3 4 6
  • UNC13 3 4 6
  • Munc13-2 3 4
  • Homolog Of Rat Munc13 (Diacylglycerol-Binding) 3
  • Unc-13-Like (C. Elegans) 2
  • Protein Unc-13 Homolog B 3
  • Unc13h2 3

External Ids for UNC13B Gene

Previous HGNC Symbols for UNC13B Gene

  • UNC13

Previous GeneCards Identifiers for UNC13B Gene

  • GC09P035153
  • GC09P035154
  • GC09P035155
  • GC09P035117

Summaries for UNC13B Gene

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. Among its related pathways are Transmission across Chemical Synapses and Transmission across Chemical Synapses. GO annotations related to this gene include signal transducer activity and diacylglycerol binding. An important paralog of this gene is RASGRP3.

UniProtKB/Swiss-Prot for UNC13B Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC13B Gene

Genomics for UNC13B Gene

Regulatory Elements for UNC13B Gene

Genomic Location for UNC13B Gene

Start:
35,161,979 bp from pter
End:
35,405,338 bp from pter
Size:
243,360 bases
Orientation:
Plus strand

Genomic View for UNC13B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UNC13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC13B Gene

Proteins for UNC13B Gene

  • Protein details for UNC13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14795-UN13B_HUMAN
    Recommended name:
    Protein unc-13 homolog B
    Protein Accession:
    O14795
    Secondary Accessions:
    • Q2NKJ5
    • Q5VYM8

    Protein attributes for UNC13B Gene

    Size:
    1591 amino acids
    Molecular mass:
    180679 Da
    Quaternary structure:
    • Interacts with RIMS1.

    Alternative splice isoforms for UNC13B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UNC13B Gene

Proteomics data for UNC13B Gene at MOPED

Post-translational modifications for UNC13B Gene

  • Ubiquitination at Lys19
  • Modification sites at PhosphoSitePlus

Other Protein References for UNC13B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for UNC13B Gene

Domains for UNC13B Gene

Suggested Antigen Peptide Sequences for UNC13B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14795

UniProtKB/Swiss-Prot:

UN13B_HUMAN :
  • O14795
Domain:
  • The C2 domains are not involved in calcium-dependent phospholipid binding.
  • Contains 3 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 UNC13B: view

No data available for Gene Families for UNC13B Gene

Function for UNC13B Gene

Molecular function for UNC13B Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for UNC13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 10233166
GO:0004872 receptor activity TAS 9607201
GO:0005515 protein binding IPI 16138900
GO:0019992 diacylglycerol binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UNC13B: view

Phenotypes for UNC13B Gene

genes like me logo Genes that share phenotypes with UNC13B: view

Animal Models for UNC13B Gene

MGI Knock Outs for UNC13B:

Animal Model Products

CRISPR Products

miRNA for UNC13B Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for UNC13B Gene

Localization for UNC13B Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC13B Gene

Cytoplasm. Membrane; Peripheral membrane protein. Cell membrane. Cell junction, synapse. Note=Localized to synapses. Translocated to the plasma membrane in response to phorbol ester binding (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UNC13B Gene COMPARTMENTS Subcellular localization image for UNC13B gene
Compartment Confidence
golgi apparatus 4
cytosol 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for UNC13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10233166
GO:0005794 Golgi apparatus IDA 16138900
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with UNC13B: view

Pathways for UNC13B Gene

genes like me logo Genes that share pathways with UNC13B: view

Pathways by source for UNC13B Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for UNC13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS 10233166
GO:0007165 signal transduction TAS 9607201
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007528 neuromuscular junction development IEA --
genes like me logo Genes that share ontologies with UNC13B: view

Compounds for UNC13B Gene

(844) HMDB Compounds for UNC13B 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

(2) Novoseek inferred chemical compound relationships for UNC13B Gene

Compound -log(P) Hits PubMed IDs
acetylcholine 7.37 1
calcium 0 4
genes like me logo Genes that share compounds with UNC13B: view

Transcripts for UNC13B Gene

Unigene Clusters for UNC13B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UNC13B

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for UNC13B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC13B Gene

No ASD Table

Relevant External Links for UNC13B Gene

GeneLoc Exon Structure for
UNC13B
ECgene alternative splicing isoforms for
UNC13B

Expression for UNC13B Gene

mRNA expression in normal human tissues for UNC13B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UNC13B Gene

SOURCE GeneReport for Unigene cluster for UNC13B Gene Hs.493791

mRNA Expression by UniProt/SwissProt for UNC13B Gene

O14795-UN13B_HUMAN
Tissue specificity: Expressed in kidney cortical epithelial cells and brain.
genes like me logo Genes that share expressions with UNC13B: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for UNC13B Gene

Orthologs for UNC13B Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC13B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 100 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
UNC13B 35
  • 99.73 (n)
  • 99.87 (a)
cow
(Bos Taurus)
Mammalia UNC13B 35
  • 92.39 (n)
  • 95.73 (a)
UNC13B 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNC13B 35
  • 92.92 (n)
  • 95.91 (a)
UNC13B 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Unc13b 35
  • 91.05 (n)
  • 95.66 (a)
Unc13b 16
Unc13b 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UNC13B 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Unc13b 35
  • 90.04 (n)
  • 94.52 (a)
chicken
(Gallus gallus)
Aves LOC100858799 35
  • 77.7 (n)
  • 86.42 (a)
UNC13B 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UNC13B 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR855996.2 36
  • 76 (a)
OneToMany
LOC100329499 35
  • 72.15 (n)
  • 77.48 (a)
unc13ba 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta unc-13 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-13 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for UNC13B:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UNC13B Gene

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

Paralogs for UNC13B Gene

Paralogs for UNC13B Gene

Selected SIMAP similar genes for UNC13B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with UNC13B: view

Variants for UNC13B Gene

Sequence variations from dbSNP and Humsavar for UNC13B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs494831 -- 35,299,168(+) CGGAC(A/G)TTGCA intron-variant
rs513002 -- 35,321,693(+) accag(G/T)tctca intron-variant
rs526878 -- 35,300,362(+) TTTTG(C/T)ACCCC intron-variant
rs550216 -- 35,297,793(+) attca(C/T)ccacc intron-variant
rs555244 -- 35,301,143(+) TAATT(C/T)GGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UNC13B Gene

Variant ID Type Subtype PubMed ID
nsv893043 CNV Gain 21882294
esv26242 CNV Gain 19812545
nsv508542 CNV Loss 20534489
esv2738392 CNV Deletion 23290073
nsv831545 CNV Loss 17160897
esv2738393 CNV Deletion 23290073
nsv820155 CNV Gain 19587683
esv2675872 CNV Deletion 23128226
esv2738394 CNV Deletion 23290073
esv2738395 CNV Deletion 23290073
esv24160 CNV Gain+Loss 19812545
nsv821068 CNV Deletion 20802225
esv2738397 CNV Deletion 23290073
dgv1307e201 CNV Deletion 23290073
dgv1308e201 CNV Deletion 23290073
esv2738403 CNV Deletion 23290073
esv1739502 CNV Deletion 17803354
esv2738404 CNV Deletion 23290073
esv2738405 CNV Deletion 23290073
esv2738406 CNV Deletion 23290073
esv2738408 CNV Deletion 23290073
dgv1309e201 CNV Deletion 23290073
esv2738409 CNV Deletion 23290073
esv2742064 CNV Deletion 23290073

Relevant External Links for UNC13B Gene

HapMap Linkage Disequilibrium report
UNC13B
Human Gene Mutation Database (HGMD)
UNC13B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC13B Gene

Disorders for UNC13B Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for UNC13B Gene including...

Search for UNC13B Gene in MalaCards »

(1) University of Copenhagen DISEASES for UNC13B Gene

Relevant External Links for UNC13B

Genetic Association Database (GAD)
UNC13B
Human Genome Epidemiology (HuGE) Navigator
UNC13B
genes like me logo Genes that share disorders with UNC13B: view

No data available for UniProtKB/Swiss-Prot for UNC13B Gene

Publications for UNC13B Gene

  1. Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy. (PMID: 9607201) Song Y. … Silverman M. (Kidney Int. 1998) 2 3 4
  2. G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes. (PMID: 18633107) TrAcgouet D.A. … Vionnet N. (Diabetes 2008) 3 48
  3. Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry. (PMID: 19492809) Dimova K. … Jahn O. (Biochemistry 2009) 3 23
  4. 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
  5. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. (PMID: 21812969) Liu X. … Lee J.H. (BMC Med. Genet. 2011) 3 48

Products for UNC13B Gene

Sources for UNC13B Gene

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