2. Gene
  3. FHOD3 - formin homology 2 domain containing 3 Gene

FHOD3 - formin homology 2 domain containing 3 Gene

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

中文名称：含甲酸同源 2 结构域 3

种属: Homo sapiens

同用名: CMH28; FHOS2; Formactin2

基因 ID: 80206 | 基因类型: protein coding

关于 FHOD3

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,297,713-36,780,220 (from NCBI)

This gene has 9 transcripts (splice variants), 338 orthologues, 18 paralogues and is associated with 1 phenotype. Biased expression in heart (RPKM 23.5), prostate (RPKM 6.1) and 10 other tissues.

功能概要

该基因编码的蛋白是 diaphanous-related formins (DRF) 的成员，包含多个结构域，包括 GBD (GTPase-binding domain) 、DID (diaphanous inhibitory domain) 、FH1 (formin homology 1) 、FH2 (formin 同源性 2) 和 DAD (透明自动调节域) 域。这种蛋白质被认为在心肌细胞中的肌动蛋白丝聚合中发挥作用。该基因的突变与扩张型心肌病 (DCM) 相关，其特征是心室腔扩张，导致收缩泵功能受损和随后的心力衰竭。在患有肥厚性心肌病 (HCM) 的个体中观察到由该基因编码的蛋白质水平升高。可变剪接导致编码不同异构体的多个转录变体。肌肉特异性亚型已显示在 FH2 结构域的 C 末端具有酪蛋白激酶 2 (CK2) 磷酸化位点。该位点的磷酸化改变了它与 sequestosome 1 (SQSTM1) 的相互作用，并将该亚型靶向肌原纤维，而其他亚型形成细胞质聚集体。[RefSeq 提供，2015 年 8 月]

The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a Casein Kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while Other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

FHOD3 基因产物(3)

mRNA Protein Name
NM_001281739.3 NP_001268668.1 FH1/FH2 domain-containing protein 3 isoform 2
NM_001281740.3 NP_001268669.1 FH1/FH2 domain-containing protein 3 isoform 3
NM_025135.5 NP_079411.2 FH1/FH2 domain-containing protein 3 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 protein binding IPI
IPI: 通过物理相互作用推断
21149568 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

FHOD3 蛋白结构

FH2

FH2: Formin Homology 2 Domain (886 - 1253)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1422 a.a.
蛋白主名 其他名称

FH1/FH2 domain-containing protein 3

formactin-2

FHOD3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FHOD3 Q2V2M9 SQSTM1 Homo sapiens Q13501
Y2H
21149568
种属内
FHOD3 Q2V2M9 SQSTM1 Homo sapiens Q13501
Confocal
21149568
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cardiomyopathy, Familial Hypertrophic, 28

CMH28

Cardiomyopathy, Familial Hypertrophic 28
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Hemochromatosis, Type 2b

Hemochromatosis Type 2b

HFE2B

Hemochromatosis 2b
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
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-RS04939 FHOD3 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 FHOD3 VGNC VGNC:40876
Bos taurus FHOD3 VGNC VGNC:29004
Felis catus FHOD3 VGNC VGNC:62268
Macaca mulatta FHOD3 VGNC VGNC:72581
Mus musculus FHOD3 MGD MGI:1925847
Rattus norvegicus FHOD3 RGD RGD:2322319
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