1. Gene
  2. UNC13B - unc-13 homolog B Gene

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

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)

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  • 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

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