UNC13B - unc-13 homolog B Gene

Also Known as UNC13; MUNC13; Unc13h2; munc13-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10497

About UNC13B

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,162,009-35,405,335 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues and 2 paralogues. Broad expression in lung (RPKM 12.8), kidney (RPKM 6.6) and 23 other tissues.

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]

UNC13B Products (10)

mRNA Protein Name
NM_001330653.3 NP_001317582.1 protein unc-13 homolog B isoform 2
NM_001371186.2 NP_001358115.1 protein unc-13 homolog B isoform 3
NM_001371187.2 NP_001358116.1 protein unc-13 homolog B isoform 4
NM_001371188.2 NP_001358117.1 protein unc-13 homolog B isoform 5
NM_001371189.2 NP_001358118.1 protein unc-13 homolog B isoform 6
NM_001387551.1 NP_001374480.1 protein unc-13 homolog B isoform 7
NM_001387553.1 NP_001374482.1 protein unc-13 homolog B isoform 8
NM_001387554.1 NP_001374483.1 protein unc-13 homolog B isoform 9
NM_001387555.1 NP_001374484.1 protein unc-13 homolog B isoform 10
NM_006377.6 NP_006368.3 protein unc-13 homolog B isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GTP-dependent protein binding IPI
IPI: Inferred from physical interaction
16138900 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16138900 GOA
Biological Process GO Annotation Evidence References Source
involved in acrosomal vesicle exocytosis IDA
IDA: Inferred from direct assay
22248876 GOA
involved in cellular response to glucose stimulus IDA
IDA: Inferred from direct assay
19641095 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
10233166 GOA
involved in positive regulation of protein secretion IDA
IDA: Inferred from direct assay
19641095 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
10233166 GOA
located in cytosol IDA
IDA: Inferred from direct assay
10233166 GOA
located in membrane IDA
IDA: Inferred from direct assay
9607201 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UNC13B Protein Structure

C2

C2: C2 domain (4 - 78)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (478 - 527)

C2

C2: C2 domain (603 - 692)

DUF1041

DUF1041: Domain of Unknown Function (DUF1041) (917 - 1022)

Membr_traf_MHD

Membr_traf_MHD: Munc13 (mammalian uncoordinated) homology domain (1263 - 1405)

C2

C2: C2 domain (1440 - 1528)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1591 a.a.
Protein Preferred Names Protein Names

protein unc-13 homolog B

  • homolog of rat Munc13 (diacylglycerol-binding)

Related Diseases

Diseases Alias
Hyperglycemia
Hemophagocytic Lymphohistiocytosis, Familial, 3

  • Familial Hemophagocytic Lymphohistiocytosis 3

  • FHL3

  • Hplh3

  • Hlh3

  • Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
Griscelli Syndrome

  • Chediak-Higashi-Like Syndrome

  • Griscelli-Prunieras Syndrome

  • Partial Albinism-Immunodeficiency Syndrome

  • Griscelli Disease

  • Gs

  • Hypopigmentation Immunodeficiency Disease

  • Partial Albinism With Immunodeficiency

  • Immunodeficiency Syndrome With Hypopigmentation

  • Hypopigmentation-Immunodeficiency Disease
Griscelli Syndrome, Type 2

  • Griscelli Syndrome Type 2

  • GS2

  • Griscelli Syndrome With Hemophagocytic Syndrome

  • Partial Albinism And Immunodeficiency Syndrome

  • Paid Syndrome

  • Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

  • Griscelli-Prunieras Syndrome Type 2

  • Griscelli-Pruniéras Syndrome Type 2

  • Griscelli Syndrome 2
Hemophagocytic Lymphohistiocytosis

  • Lymphohistiocytosis, Hemophagocytic

  • Haemophagocytic Syndrome

  • Lymphohistiocytosis Hemophagocytic

  • Hemophagocytic Syndrome

  • Familial Hemophagocytic Lymphocytosis

  • Histiocytoses Of Mononuclear Phagocytes

  • Haemophagocytic Lymphohistiocytosis Nos
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15465 UNC13B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris UNC13B VGNC VGNC:106615
Felis catus UNC13B VGNC VGNC:103006
Rattus norvegicus UNC13B RGD RGD:619723
Macaca mulatta UNC13B VGNC VGNC:107120
Bos taurus UNC13B VGNC VGNC:56987
Mus musculus UNC13B MGD MGI:1342278
Others UNC13B NCBI