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Aliases for UNC13B Gene

Aliases for UNC13B Gene

  • Unc-13 Homolog B (C. Elegans) 2 3 5
  • Munc13-2 3 4
  • MUNC13 3 4
  • UNC13 3 4
  • Homolog Of Rat Munc13 (Diacylglycerol-Binding) 3
  • Unc-13-Like (C. Elegans) 2
  • 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 and Masa Syndrome. Among its related pathways are Synaptic vesicle cycle and Monoamine Transport. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for UNC13B Gene at MOPED

Post-translational modifications for UNC13B Gene

  • Ubiquitination at Lys 19
  • Modification sites at PhosphoSitePlus

Other Protein References for UNC13B Gene

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

Animal Models for UNC13B Gene

MGI Knock Outs for UNC13B:

Animal Model Products

miRNA for UNC13B Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005622 intracellular IEA --
GO:0048786 presynaptic active zone TAS 15217342
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 synaptic transmission IEA,ISS --
GO:0007528 neuromuscular junction development IEA --
GO:0007588 excretion TAS 9607201
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:

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, 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 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 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
chimpanzee
(Pan troglodytes)
Mammalia UNC13B 35
  • 99.73 (n)
  • 99.87 (a)
-- 36
  • 100 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Unc13b 35
  • 90.04 (n)
  • 94.52 (a)
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
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 LOC100329499 35
  • 72.15 (n)
  • 77.48 (a)
CR855996.2 36
  • 76 (a)
OneToMany
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

(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
rs642223 -- 35,301,962(+) TGGTC(A/G)TTCCT intron-variant
rs654571 -- 35,320,249(+) attat(A/G)taccc 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

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

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
masa syndrome
  • crash syndrome
hemophagocytic lymphohistiocytosis
  • haemophagocytic 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 67
  2. Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry. (PMID: 19492809) Dimova K. … Jahn O. (Biochemistry 2009) 3 23
  3. The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis. (PMID: 14593078) Cheviet S. … Regazzi R. (Mol. Endocrinol. 2004) 3 23
  4. Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery. (PMID: 9195900) Orita S. … Takai Y. (J. Biol. Chem. 1997) 3 23
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3

Products for UNC13B Gene

Sources for UNC13B Gene

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