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Aliases for UNC13B Gene

Aliases for UNC13B Gene

  • Unc-13 Homolog B 2 3
  • Unc-13 Homolog B (C. Elegans) 2 5
  • Munc13-2 3 4
  • MUNC13 3 4
  • UNC13 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) is a Protein Coding gene. Diseases associated with UNC13B include Hyperglycemia and Hemophagocytic Lymphohistiocytosis. Among its related pathways are Neurotransmitter Release Cycle and Synaptic vesicle cycle. GO annotations related to this gene include signal transducer activity and diacylglycerol binding. An important paralog of this gene is UNC13A.

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

Enhancers for UNC13B 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 UNC13B on UCSC Golden Path with GeneCards custom track

Promoters for UNC13B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UNC13B on UCSC Golden Path with GeneCards custom track

Genomic Location for UNC13B Gene

Chromosome:
9
Start:
35,161,982 bp from pter
End:
35,405,338 bp from pter
Size:
243,357 bases
Orientation:
Plus strand

Genomic View for UNC13B Gene

Genes around UNC13B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC13B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for UNC13B Gene

  • Ubiquitination at Lys 19
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for UNC13B Gene

Domains & Families for UNC13B Gene

Gene Families 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 :
  • 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 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

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 9607201
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
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

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 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
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3
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 & Interactions for UNC13B Gene

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

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 chemical synaptic transmission ISS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007528 neuromuscular junction development IEA --
genes like me logo Genes that share ontologies with UNC13B: view

No data available for SIGNOR curated interactions for UNC13B Gene

Drugs & Compounds for UNC13B Gene

(2) Drugs for UNC13B Gene - From: HMDB and Novoseek

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

(4) Additional Compounds for UNC13B 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 UNC13B: view

Transcripts for UNC13B Gene

Unigene Clusters for UNC13B Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Protein differential expression in normal tissues from HIPED for UNC13B Gene

This gene is overexpressed in Monocytes (23.5), Tlymphocyte (18.0), and Heart (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UNC13B Gene



NURSA nuclear receptor signaling pathways regulating expression of UNC13B Gene:

UNC13B

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 expression patterns with UNC13B: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia UNC13B 34
  • 92.39 (n)
  • 95.73 (a)
UNC13B 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNC13B 34
  • 92.92 (n)
  • 95.91 (a)
UNC13B 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Unc13b 34
  • 91.05 (n)
  • 95.66 (a)
Unc13b 16
Unc13b 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UNC13B 34
  • 99.73 (n)
  • 99.87 (a)
-- 35
  • 100 (a)
OneToMany
-- 35
  • 98 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Unc13b 34
  • 90.04 (n)
  • 94.52 (a)
oppossum
(Monodelphis domestica)
Mammalia UNC13B 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100858799 34
  • 77.7 (n)
  • 86.42 (a)
UNC13B 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UNC13B 35
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100329499 34
  • 72.15 (n)
  • 77.48 (a)
CR855996.2 35
  • 76 (a)
OneToMany
unc13ba 35
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta unc-13 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-13 35
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
Species where no ortholog for UNC13B 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)
  • 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

(5) 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
VAR_036615 A colorectal cancer sample
rs35199210 - 35,295,883(-) ATAGA(G/T)TCATT reference, missense
rs12339582 - 35,398,903(+) GATGA(G/T)TGTGT reference, missense
rs7851900 -- 35,392,465(+) acttc(A/G)tgatt intron-variant
rs7852108 -- 35,177,889(+) AAGAA(C/T)TGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1255e201 CNV deletion 23290073
dgv1256e201 CNV deletion 23290073
dgv1257e201 CNV deletion 23290073
dgv1472e214 CNV loss 21293372
dgv3985n106 CNV duplication 24896259
esv1739502 CNV deletion 17803354
esv24160 CNV gain+loss 19812545
esv26242 CNV gain 19812545
esv2675872 CNV deletion 23128226
esv2738392 CNV deletion 23290073
esv2738393 CNV deletion 23290073
esv2738394 CNV deletion 23290073
esv2738395 CNV deletion 23290073
esv2738397 CNV deletion 23290073
esv2738403 CNV deletion 23290073
esv2738404 CNV deletion 23290073
esv2738405 CNV deletion 23290073
esv2738406 CNV deletion 23290073
esv2738408 CNV deletion 23290073
esv2738409 CNV deletion 23290073
esv2742064 CNV deletion 23290073
esv3620370 CNV gain 21293372
esv3620374 CNV gain 21293372
nsv1025195 CNV gain 25217958
nsv1030303 CNV gain 25217958
nsv1125318 OTHER inversion 24896259
nsv478521 CNV novel sequence insertion 20440878
nsv508542 CNV deletion 20534489
nsv614162 CNV loss 21841781
nsv820155 CNV gain 19587683
nsv821068 CNV deletion 20802225
nsv831545 CNV loss 17160897
nsv972666 CNV duplication 23825009

Variation tolerance for UNC13B Gene

Residual Variation Intolerance Score: 5.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.19; 69.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UNC13B Gene

Human Gene Mutation Database (HGMD)
UNC13B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC13B

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

Disorders for UNC13B Gene

MalaCards: The human disease database

(3) MalaCards diseases for UNC13B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperglycemia
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
masa syndrome
  • crash syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UNC13B

Genetic Association Database (GAD)
UNC13B
Human Genome Epidemiology (HuGE) Navigator
UNC13B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC13B
genes like me logo Genes that share disorders with UNC13B: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 65
  2. 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 46 65
  3. 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
  4. Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry. (PMID: 19492809) Dimova K. … Jahn O. (Biochemistry 2009) 3 22 65
  5. 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 46 65

Products for UNC13B Gene

Sources for UNC13B Gene

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