UNC13B - unc-13 homolog B Gene

Homo sapiens

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

Gene ID: 10497 | Gene type: protein coding

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

UNC13B Protein Structure

C1_1

DUF1041

Membr_traf_MHD

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15465	UNC13B Human Pre-designed siRNA Set A		/	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

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