2. Gene
  3. DENND4C - DENN domain containing 4C Gene

DENND4C - DENN domain containing 4C Gene

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

中文名称：含 DENN 结构域 4C

种属: Homo sapiens

同用名: C9orf55; C9orf55B; RAB10GEF; bA513M16.3

基因 ID: 55667 | 基因类型: protein coding

关于 DENND4C

This gene has 9 transcripts (splice variants), 210 orthologues and 3 paralogues. Ubiquitous expression in duodenum (RPKM 11.5), skin (RPKM 11.0) and 25 other tissues.

功能概要

启用胍基核苷酸交换因子活性。预计参与细胞对胰岛素刺激的反应；蛋白质定位于质膜； Rab 蛋白信号转导的调控。位于高尔基体和细胞质中。 [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 cellular response to Insulin stimulus; protein localization to plasma membrane; and regulation of Rab protein signal transduction. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

DENND4C 基因产物(21)

mRNA Protein Name
NM_001330640.2 NP_001317569.1 DENN domain-containing protein 4C isoform 2
NM_001386026.2 NP_001372955.1 DENN domain-containing protein 4C isoform 5
NM_001386030.1 NP_001372959.1 DENN domain-containing protein 4C isoform 6
NM_001386031.1 NP_001372960.1 DENN domain-containing protein 4C isoform 7
NM_001386032.1 NP_001372961.1 DENN domain-containing protein 4C isoform 4
NM_001386034.1 NP_001372963.1 DENN domain-containing protein 4C isoform 4
NM_001386035.1 NP_001372964.1 DENN domain-containing protein 4C isoform 8
NM_001386036.1 NP_001372965.1 DENN domain-containing protein 4C isoform 9
NM_001386037.1 NP_001372966.1 DENN domain-containing protein 4C isoform 10
NM_001386038.1 NP_001372967.1 DENN domain-containing protein 4C isoform 11
NM_001386039.1 NP_001372968.1 DENN domain-containing protein 4C isoform 12
NM_001386040.1 NP_001372969.1 DENN domain-containing protein 4C isoform 13
NM_001386041.1 NP_001372970.1 DENN domain-containing protein 4C isoform 14
NM_001386042.1 NP_001372971.1 DENN domain-containing protein 4C isoform 15
NM_001386043.1 NP_001372972.1 DENN domain-containing protein 4C isoform 3
NM_001386044.1 NP_001372973.1 DENN domain-containing protein 4C isoform 3
NM_001386045.1 NP_001372974.1 DENN domain-containing protein 4C isoform 16
NM_001386046.1 NP_001372975.1 DENN domain-containing protein 4C isoform 17
NM_001386047.1 NP_001372976.1 DENN domain-containing protein 4C isoform 2
NM_001386048.1 NP_001372977.1 DENN domain-containing protein 4C isoform 3
NM_017925.7 NP_060395.5 DENN domain-containing protein 4C 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

DENND4C 蛋白结构

uDENN

uDENN: uDENN domain (210 - 276)

DENN

DENN: DENN (AEX-3) domain (309 - 492)

dDENN

dDENN: dDENN domain (559 - 632)

  • 0
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  • 1500
  • 1800
  • 1909 a.a.
蛋白主名 其他名称

DENN domain-containing protein 4C

DENN/MADD domain containing 4A pseudogene

关联疾病

疾病名称 别名
Alkuraya-Kucinskas Syndrome

ALKKUCS

Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

Arthrogryposis
Spastic Paraplegia 39, Autosomal Recessive

SPG39

Ntemnd

Hereditary Spastic Paraplegia 39

Nte-Related Motor Neuron Disorder

Autosomal Recessive Spastic Paraplegia Type 39

Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

Spastic Paraplegia Due To Nte Mutation

Spastic Paraplegia 39

Autosomal Recessive Spastic Paraplegia 39

Nte Related Motor Neuron Disorder

Paraplegia, Spastic, Type 39
Lissencephaly 8

LIS8
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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-RS03689 DENND4C Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DENND4C VGNC VGNC:71715
Felis catus DENND4C VGNC VGNC:61438
Rattus norvegicus DENND4C RGD RGD:1308489
Bos taurus DENND4C VGNC VGNC:28001
Mus musculus DENND4C MGD MGI:1914769
Canis familiaris DENND4C VGNC VGNC:39892
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