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 ... See more...

Aliases for UNC13B Gene

Aliases for UNC13B Gene

  • Unc-13 Homolog B 2 3 5
  • Munc13-2 2 3 4
  • Protein Unc-13 Homolog B 3 4
  • Unc13h2 2 3
  • UNC13 3 4
  • Homolog Of Rat Munc13 (Diacylglycerol-Binding) 3
  • Unc-13 Homolog B (C. Elegans) 2
  • Unc-13-Like (C. Elegans) 2
  • Unc-13-Like 3
  • Hmunc13 2
  • MUNC13 3
  • UNC13B 5
  • Munc13 4

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 Monoamine Transport and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and diacylglycerol binding. An important paralog of this gene is UNC13A.

UniProtKB/Swiss-Prot Summary 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) (By similarity). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). In collaboration with UNC13A, facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity).

Gene Wiki entry for UNC13B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UNC13B Gene

Genomics for UNC13B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UNC13B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UNC13B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UNC13B

Top Transcription factor binding sites by QIAGEN in the UNC13B gene promoter:
  • c-Rel
  • Chx10
  • CUTL1
  • Egr-2
  • Egr-4
  • FOXD1
  • GATA-1
  • HTF
  • RelA
  • STAT5B

Genomic Locations for UNC13B Gene

Genomic Locations for UNC13B Gene
chr9:35,161,992-35,405,338
(GRCh38/hg38)
Size:
243,347 bases
Orientation:
Plus strand
chr9:35,161,989-35,405,335
(GRCh37/hg19)
Size:
243,347 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
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    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 Lys19
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UNC13B Gene

Domains & Families for UNC13B Gene

Gene Families for UNC13B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UNC13B Gene

InterPro:
Blocks:
  • C2 domain
  • Protein of unknown function DUF1041
ProtoNet:

Suggested Antigen Peptide Sequences for UNC13B Gene

GenScript: Design optimal peptide antigens:
  • UNC13B protein (Q2NKJ5_HUMAN)
  • Munc13-2 (UN13B_HUMAN)

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.
Domain:
  • The C2 domains are not involved in calcium-dependent phospholipid binding.
Family:
  • Belongs to the unc-13 family.
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) (By similarity). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). In collaboration with UNC13A, facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity).

Phenotypes From GWAS Catalog for UNC13B Gene

Gene Ontology (GO) - Molecular Function for UNC13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16138900
GO:0005516 calmodulin binding ISS --
GO:0005543 phospholipid binding IEA --
GO:0017075 syntaxin-1 binding IBA 21873635
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC13B

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNC13B gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Vesicles (2)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UNC13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 10233166
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
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:0006887 exocytosis IEA --
GO:0007268 chemical synaptic transmission IEA,ISS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007528 neuromuscular junction development IEA,IBA 21873635
GO:0010808 positive regulation of synaptic vesicle priming ISS --
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

(3) Drugs for UNC13B Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bryostatin 1 Investigational Pharma Target, ligand 42
Calcium Nutra 6556

(4) Additional Compounds for UNC13B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with UNC13B: view

Transcripts for UNC13B Gene

mRNA/cDNA for UNC13B Gene

6 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC13B

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

No ASD Table

Relevant External Links for UNC13B Gene

GeneLoc Exon Structure for
UNC13B

Expression for UNC13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UNC13B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for UNC13B Gene

  • Kidney(4.5)
  • Liver(4.4)
  • Nervous system(4.3)
  • Skin(3.9)
  • Lung(2.8)
  • Adrenal gland(2.7)
  • Muscle(2.5)
  • Intestine(2.2)
  • Pancreas(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with UNC13B: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 -- 31
  • 100 (a)
OneToMany
UNC13B 30
  • 99.73 (n)
-- 31
  • 98 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia UNC13B 30 31
  • 92.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UNC13B 30 31
  • 92.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Unc13b 30 17 31
  • 91.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Unc13b 30
  • 90.04 (n)
Oppossum
(Monodelphis domestica)
Mammalia UNC13B 31
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves UNC13B 31
  • 85 (a)
OneToOne
LOC100858799 30
  • 77.7 (n)
Lizard
(Anolis carolinensis)
Reptilia UNC13B 31
  • 64 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CR855996.2 31
  • 76 (a)
OneToMany
unc13ba 31
  • 75 (a)
OneToMany
LOC100329499 30
  • 72.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta unc-13 31
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-13 31
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
Species where no ortholog for UNC13B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UNC13B: view image

Paralogs for UNC13B Gene

Paralogs for UNC13B Gene

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

  • UN13B_HUMAN
  • B1AM27_HUMAN
  • F8W8M9_HUMAN
  • I6L9J0_HUMAN
  • Q2NKJ5_HUMAN
genes like me logo Genes that share paralogs with UNC13B: view

Variants for UNC13B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UNC13B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
719808 Benign: not provided 35,399,005(+) C/T SYNONYMOUS_VARIANT
774465 Benign: not provided 35,295,883(+) C/A MISSENSE_VARIANT
780046 Benign: not provided 35,397,169(+) C/G MISSENSE_VARIANT
784143 Benign: not provided 35,376,111(+) G/A SYNONYMOUS_VARIANT
VAR_036615 A colorectal cancer sample p.Pro209Ser

Additional dbSNP identifiers (rs#s) for UNC13B Gene

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)

Additional Variant Information 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

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UNC13B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 international 1998) 2 3 4
  2. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. (PMID: 21812969) Liu X … Lee JH (BMC medical genetics 2011) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry. (PMID: 19492809) Dimova K … Jahn O (Biochemistry 2009) 3 23
  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) Trégouet DA … EURAGEDIC Consortium (Diabetes 2008) 3 41

Products for UNC13B Gene