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

UNC13B - unc-13 homolog B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：unc-13 同系物 B

种属: Homo sapiens

同用名: UNC13; MUNC13; Unc13h2; munc13-2

基因 ID: 10497 | 基因类型: protein coding

关于 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.

功能概要

该基因在肾皮质上皮细胞中表达，并因高血糖而上调。编码的蛋白质与大鼠同系物具有高度相似性，包含 3 个 C2 结构域和一个结合二酰甘油的 C1 结构域。高血糖会增加甘油二酯的水平，已证明甘油二酯会诱导转染该基因的细胞发生细胞凋亡，从而导致高血糖引起的肾细胞并发症。对其他物种的研究也表明这种蛋白质在突触小泡胞吐作用的启动步骤中起作用。[RefSeq 提供，2008 年 7 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

protein unc-13 homolog B

homolog of rat Munc13 (diacylglycerol-binding)

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15465 UNC13B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z