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  2. DENND3 - DENN domain containing 3 Gene

DENND3 - DENN domain containing 3 Gene

中文名称:含 DENN 域 3

种属: Homo sapiens

基因 ID: 22898 | 基因类型: protein coding

关于 DENND3

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:141,128,589-141,195,804 (from NCBI)

This gene has 22 transcripts (splice variants), 284 orthologues and 3 paralogues. Broad expression in bone marrow (RPKM 17.0), lung (RPKM 14.2) and 23 other tissues.

功能概要

启用胍基核苷酸交换因子活性。预计参与细胞蛋白质分解代谢过程;内体到溶酶体的运输; Rab 蛋白信号转导的调控。预测位于胞质溶胶中。预测在细胞质囊泡中有活性。 [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 protein catabolic process; endosome to lysosome transport; and regulation of Rab protein signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022]

DENND3 基因产物(4)

mRNA Protein Name
NM_001352890.3 NP_001339819.2 DENN domain-containing protein 3 isoform 1
NM_001352891.3 NP_001339820.2 DENN domain-containing protein 3 isoform 3
NM_001362798.2 NP_001349727.1 DENN domain-containing protein 3 isoform 4
NM_014957.5 NP_055772.3 DENN domain-containing protein 3 isoform 2

DENND3 蛋白结构

uDENN

uDENN: uDENN domain (39 - 80)

DENN

DENN: DENN (AEX-3) domain (106 - 290)

dDENN

dDENN: dDENN domain (354 - 417)

WD40

WD40: WD domain, G-beta repeat (978 - 1017)

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  • 1198 a.a.
蛋白主名 其他名称

DENN domain-containing protein 3

DENN/MADD domain containing 3

关联疾病

疾病名称 别名
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Sarcosinemia

Sarcosine Dehydrogenase Complex Deficiency

Sard Deficiency

Sardh Deficiency

SARCOS

Hypersarcosinemia

Sardhd

Demethylation Defect Of N-Methylglycine

Janus Kinase-3 Deficiency
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus DENND3 MGD MGI:2146009
Felis catus DENND3 VGNC VGNC:61436
Rattus norvegicus DENND3 RGD RGD:1311559
Bos taurus DENND3 VGNC VGNC:27998
Canis familiaris DENND3 VGNC VGNC:39889
Macaca mulatta DENND3 VGNC VGNC:71811