UNC13B unc-13 homolog B [Homo sapiens (human)] - Gene

Summary

Official Symbol: UNC13Bprovided by HGNC
Official Full Name: unc-13 homolog Bprovided by HGNC
Primary source: HGNC:HGNC:12566
See related: Ensembl:ENSG00000198722 MIM:605836; AllianceGenome:HGNC:12566
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UNC13; MUNC13; Unc13h2; munc13-2
Summary: 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]
Expression: Broad expression in lung (RPKM 12.8), kidney (RPKM 6.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 47

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35162009..35405335)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35181209..35424479)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35162006..35405332)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.
Title: Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.
UNC13B variants associated with partial epilepsy with favourable outcome.
Title: UNC13B variants associated with partial epilepsy with favourable outcome.
TRPC6 exocytosis by targeting to the C1 domain of Munc13-2.
Title: Munc13 mediates klotho-inhibitable diacylglycerol-stimulated exocytotic insertion of pre-docked TRPC6 vesicles.
There were no significant differences in the distribution of allele or genotype frequencies in the five UNC13B SNP markers (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) between the Diabetic Kidney Disease group and control group of patients with type 2 diabetes mellitus .
Title: The Association of UNC13B Gene Polymorphisms and Diabetic Kidney Disease in a Chinese Han Population.
Abnormal splicing mutation in UNC13B was identified in the patient with bipolar disorder.
Title: De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.
Assisted by NSF/alpha-SNAP, syntaxin-1 escapes tomosyn arrest and assembles into the Munc18-1/syntaxin-1 complex. Munc13-1 then catalyzes the transit of syntaxin-1 from the Munc18-1/syntaxin-1 complex to the SNARE complex
Title: Tomosyn guides SNARE complex formation in coordination with Munc18 and Munc13.
A rare missense variation (V1525M) in UNC13B was identified by WES in the multiplex family; this variation was present in five of six affected individuals, but not in eight unaffected individuals or one individual of unknown disease status. Resequencing UNC13B coding regions identified five rare missense variations (T103M, M813T, P1349T, I1362T, and V1525M).
Title: Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study.
The 1-5-8-26 CaM binding motif discovered in Munc13-1 cannot be induced in the classical CaM target skMLCK, indicating unique features of the Munc13 CaM binding motif.
Title: Structural insights into calmodulin/Munc13 interaction.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
mechanistic basis for high glucose-induced protein secretion is through interaction of munc13 and rab34, indicating a potentially critical role for this newly described pathway in the pathogenesis of DN.
Title: Rab34 and its effector munc13-2 constitute a new pathway modulating protein secretion in the cellular response to hyperglycemia.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-79407 (e-PCR)
- UniSTS:103297

D9S761 (e-PCR)
- UniSTS:48266

D9S2099 (e-PCR)
- UniSTS:74399

SHGC-142025 (e-PCR)
- UniSTS:171202

D9S1079 (e-PCR)
- UniSTS:41948

G20429 (e-PCR)
- UniSTS:9956

A005R04 (e-PCR)
- UniSTS:9957

MARC_17336-17337:1021394418:1 (e-PCR)
- UniSTS:268276

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables diacylglycerol binding	NAS Non-traceable Author Statement more info	PubMed
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	NAS Non-traceable Author Statement more info	PubMed
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in acrosomal vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in dense core granule priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuronal dense core vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inhibitory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synaptic vesicle priming	ISS Inferred from Sequence or Structural Similarity more info
involved_in presynaptic dense core vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle docking	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle priming	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone	TAS Traceable Author Statement more info	PubMed
is_active_in presynaptic active zone cytoplasmic component	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein unc-13 homolog B

Names: homolog of rat Munc13 (diacylglycerol-binding); unc-13-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033014.1 RefSeqGene

Range

5018..248344

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330653.3 → NP_001317582.1 protein unc-13 homolog B isoform 2

Status: REVIEWED

Source sequence(s)

AL160274, AL353795, AL354669

Consensus CDS

CCDS83361.1

UniProtKB/TrEMBL

B1AM27

Related

ENSP00000479261.1, ENST00000619578.4

Conserved Domains (6) summary

cd04027
Location:600 → 726

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08394
Location:1 → 127

C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1458 → 1577

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:478 → 527

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:918 → 1022

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1265 → 1401

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
NM_001371186.2 → NP_001358115.1 protein unc-13 homolog B isoform 3

Status: REVIEWED

Source sequence(s)

AL160274, AL353795, AL354669

UniProtKB/TrEMBL

Q4LE73

Conserved Domains (6) summary

cd04027
Location:600 → 726

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08394
Location:1 → 127

C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1438 → 1557

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:478 → 527

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:918 → 1019

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1264 → 1400

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
NM_001371187.2 → NP_001358116.1 protein unc-13 homolog B isoform 4

Status: REVIEWED

Source sequence(s)

AL160274

Consensus CDS

CCDS94405.1

UniProtKB/TrEMBL

A0A1B0GVW8

Related

ENSP00000490683.1, ENST00000636694.1

Conserved Domains (5) summary

cd04027
Location:980 → 1106

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1838 → 1957

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:858 → 907

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:1298 → 1400

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1645 → 1781

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
NM_001371188.2 → NP_001358117.1 protein unc-13 homolog B isoform 5

Status: REVIEWED

Source sequence(s)

AL160274

UniProtKB/TrEMBL

I6L9J0

Related

ENST00000637271.1

Conserved Domains (5) summary

cd04027
Location:230 → 356

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1069 → 1188

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:108 → 157

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:548 → 650

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:895 → 1031

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
NM_001371189.2 → NP_001358118.1 protein unc-13 homolog B isoform 6

Status: REVIEWED

Source sequence(s)

AL160274, AL353795, AL354669

Consensus CDS

CCDS94404.1

UniProtKB/TrEMBL

A0A1B0GUS7

Related

ENSP00000490228.1, ENST00000635942.2

Conserved Domains (6) summary

cd04027
Location:3349 → 3475

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08394
Location:1 → 127

C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:4188 → 4307

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:3227 → 3276

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:3667 → 3769

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:4014 → 4150

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
NM_001387551.1 → NP_001374480.1 protein unc-13 homolog B isoform 7

Status: REVIEWED

Source sequence(s)

AL160274, AL353795, AL354669

UniProtKB/TrEMBL

B1AM27

Conserved Domains (6) summary

cd04027
Location:612 → 738

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08394
Location:1 → 127

C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1451 → 1570

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

pfam06292
Location:930 → 1034

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1277 → 1413

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

cd20859
Location:471 → 552

C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
NM_001387553.1 → NP_001374482.1 protein unc-13 homolog B isoform 8

Status: REVIEWED

Source sequence(s)

AL160274, AL354669

UniProtKB/TrEMBL

Q4LE73

Conserved Domains (6) summary

cd04027
Location:551 → 677

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1390 → 1509

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

pfam06292
Location:869 → 973

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1216 → 1352

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

cd20859
Location:410 → 491

C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins

cl14603
Location:1 → 78

C2; C2 domain
NM_001387554.1 → NP_001374483.1 protein unc-13 homolog B isoform 9

Status: REVIEWED

Source sequence(s)

AL160274, AL354669

UniProtKB/TrEMBL

Q4LE73

Conserved Domains (6) summary

cd04027
Location:551 → 677

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1389 → 1508

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

pfam06292
Location:869 → 972

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1215 → 1351

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

cd20859
Location:410 → 491

C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins

cl14603
Location:1 → 78

C2; C2 domain
NM_001387555.1 → NP_001374484.1 protein unc-13 homolog B isoform 10

Status: REVIEWED

Source sequence(s)

AL160274

Conserved Domains (5) summary

cd04027
Location:980 → 1106

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1837 → 1956

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

pfam06292
Location:1298 → 1401

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1644 → 1780

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

cd20859
Location:839 → 920

C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
NM_006377.6 → NP_006368.3 protein unc-13 homolog B isoform 1

See identical proteins and their annotated locations for NP_006368.3

Status: REVIEWED

Source sequence(s)

AL160274, AL353795, AL354669

Consensus CDS

CCDS6579.1

UniProtKB/Swiss-Prot

O14795, Q2NKJ5, Q5VYM8

UniProtKB/TrEMBL

Q4LE73

Related

ENSP00000367756.3, ENST00000378495.7

Conserved Domains (6) summary

cd04027
Location:600 → 726

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08394
Location:1 → 127

C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1439 → 1558

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:478 → 527

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:918 → 1022

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:1265 → 1401

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

RNA

NR_170667.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL160274, AL353795, AL354669

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

35162009..35405335

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422602.1 → XP_047278558.1 protein unc-13 homolog B isoform X3
XM_047422603.1 → XP_047278559.1 protein unc-13 homolog B isoform X4
XM_047422604.1 → XP_047278560.1 protein unc-13 homolog B isoform X5
XM_011517686.3 → XP_011515988.1 protein unc-13 homolog B isoform X6

UniProtKB/TrEMBL

I6L9J0

Related

ENSP00000484432.1, ENST00000617908.4

Conserved Domains (5) summary

cd04027
Location:230 → 356

C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins

cd08395
Location:1088 → 1207

C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins

cd00029
Location:108 → 157

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam06292
Location:548 → 652

DUF1041; Domain of Unknown Function (DUF1041)

pfam10540
Location:895 → 1031

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
XM_047422605.1 → XP_047278561.1 protein unc-13 homolog B isoform X7
XM_047422600.1 → XP_047278556.1 protein unc-13 homolog B isoform X1
XM_047422601.1 → XP_047278557.1 protein unc-13 homolog B isoform X2