2. Gene
  3. DENND5B - DENN domain containing 5B Gene

DENND5B - DENN domain containing 5B Gene

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

中文名称：含 DENN 结构域 5B

种属: Homo sapiens

基因 ID: 160518 | 基因类型: protein coding

关于 DENND5B

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:31,382,226-31,591,136 (from NCBI)

This gene has 7 transcripts (splice variants), 188 orthologues and 10 paralogues. Broad expression in ovary (RPKM 8.9), testis (RPKM 6.8) and 21 other tissues.

功能概要

启用胍基核苷酸交换因子活性。预计参与甘油三酯转运的正向调节和催化活性的调节。预测位于胞质溶胶中。 [由基因组资源联盟提供，2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of triglyceride transport and regulation of catalytic activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

DENND5B 基因产物(6)

mRNA Protein Name
NM_001308339.2 NP_001295268.1 DENN domain-containing protein 5B isoform 2
NM_001366890.1 NP_001353819.1 DENN domain-containing protein 5B isoform 3
NM_001366891.1 NP_001353820.1 DENN domain-containing protein 5B isoform 4
NM_001366892.1 NP_001353821.1 DENN domain-containing protein 5B isoform 5
NM_001366893.1 NP_001353822.1 DENN domain-containing protein 5B isoform 6
NM_144973.4 NP_659410.3 DENN domain-containing protein 5B isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
20937701 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DENND5B 蛋白结构

uDENN

uDENN: uDENN domain (56 - 120)

DENN

DENN: DENN (AEX-3) domain (187 - 375)

dDENN

dDENN: dDENN domain (498 - 574)

RUN

RUN: RUN domain (780 - 924)

PLAT

PLAT: PLAT/LH2 domain (953 - 1043)

RUN

RUN: RUN domain (1127 - 1262)

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  • 1274 a.a.
蛋白主名 其他名称

DENN domain-containing protein 5B

DENN/MADD domain containing 5B

关联疾病

疾病名称 别名
Lissencephaly 8

LIS8
Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
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-RS03691 DENND5B Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris DENND5B VGNC VGNC:39894
Rattus norvegicus DENND5B RGD RGD:2318606
Mus musculus DENND5B MGD MGI:2444273
Macaca mulatta DENND5B VGNC VGNC:71772
Bos taurus DENND5B VGNC VGNC:28002
Felis catus DENND5B VGNC VGNC:61440
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