2. Gene
  3. FCHO2 - FCH and mu domain containing endocytic adaptor 2 Gene

FCHO2 - FCH and mu domain containing endocytic adaptor 2 Gene

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

中文名称：含 FCH 和内吞适配因子 2 的 mu 域

种属: Homo sapiens

基因 ID: 115548 | 基因类型: protein coding

关于 FCHO2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:72,956,041-73,090,522 (from NCBI)

This gene has 7 transcripts (splice variants), 222 orthologues and 5 paralogues. Ubiquitous expression in esophagus (RPKM 12.4), thyroid (RPKM 12.1) and 25 other tissues.

功能概要

实现相同的蛋白质结合活性。参与网格蛋白涂层组装和网格蛋白依赖性内吞作用。位于网格蛋白包被的小坑和网格蛋白包被的囊泡中。 [由基因组资源联盟提供，2022 年 4 月]

Enables identical protein binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in clathrin-coated pit and clathrin-coated vesicle. [provided by Alliance of Genome Resources, Apr 2022]

FCHO2 基因产物(2)

mRNA Protein Name
NM_001146032.2 NP_001139504.1 F-BAR domain only protein 2 isoform b
NM_138782.3 NP_620137.2 F-BAR domain only protein 2 isoform a

FCHO2 蛋白结构

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (9 - 94)

muHD

muHD: Muniscin C-terminal mu homology domain (543 - 808)

  • 0
  • 200
  • 400
  • 600
  • 810 a.a.
蛋白主名 其他名称

F-BAR domain only protein 2

FCH domain only 2

关联疾病

疾病名称 别名
Cardiomyopathy, Familial Hypertrophic, 2

Hypertrophic Cardiomyopathy 2

CMH2

Cardiomyopathy, Hypertrophic, 2

Cardiomyopathy Familial Hypertrophic 2

Cardiomyopathy, Familial Hypertrophic 2

Cardiomyopathy, Hypertrophic, Familial, Type 2
Developmental And Epileptic Encephalopathy 4

DEE4

Epileptic Encephalopathy, Early Infantile, 4

Eiee4

Early Infantile Epileptic Encephalopathy 4

Stxbp1-Related Early-Onset Encephalopathy

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 4

Stxbp1 Disorders

Stxbp1 Encephalopathy

Developmental And Epileptic Encephalopathy, Type 4

Early-Infantile Epileptic Encephalopathy 4

Stxbp1 Encephalopathy With Epilepsy

Stxbp1 Epileptic Encephalopathy

Stxbp1-Related Developmental And Epileptic Encephalopathy

Stxbp1-Related Epileptic Encephalopathy

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 4
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-RS04835 FCHO2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus FCHO2 RGD RGD:1565396
Macaca mulatta FCHO2 VGNC VGNC:72571
Canis familiaris FCHO2 VGNC VGNC:40805
Bos taurus FCHO2 VGNC VGNC:28936
Mus musculus FCHO2 MGD MGI:3505790
Felis catus FCHO2 VGNC VGNC:62211
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