2. Gene
  3. FHDC1 - FH2 domain containing 1 Gene

FHDC1 - FH2 domain containing 1 Gene

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

中文名称：含 FH2 域 1

种属: Homo sapiens

同用名: INF1

基因 ID: 85462 | 基因类型: protein coding

关于 FHDC1

This gene has 1 transcript (splice variant), 221 orthologues and 18 paralogues. Ubiquitous expression in thyroid (RPKM 7.7), prostate (RPKM 5.1) and 24 other tissues.

功能概要

预测启用肌动蛋白结合活性和微管结合活性。参与高尔基带的形成；纤毛组装；和应力纤维组件。位于纤毛和微管中。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Apr 2022]

FHDC1 基因产物(2)

mRNA Protein Name
NM_001371116.1 NP_001358045.1 FH2 domain-containing protein 1
NM_033393.3 NP_203751.2 FH2 domain-containing protein 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi ribbon formation IMP
IMP: 通过突变表型推断
26564798 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
29742020 GOA
involved in stress fiber assembly IDA
IDA: 通过直接分析推断
18815276 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cilium IDA
IDA: 通过直接分析推断
29742020 GOA
located in microtubule IDA
IDA: 通过直接分析推断
18815276 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

FHDC1 蛋白结构

FH2

FH2: Formin Homology 2 Domain (92 - 457)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1143 a.a.
蛋白主名 其他名称

FH2 domain-containing protein 1

inverted formin-1

关联疾病

疾病名称 别名
Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish
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-RS04932 FHDC1 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 FHDC1 VGNC VGNC:72598
Canis familiaris FHDC1 VGNC VGNC:40869
Felis catus FHDC1 VGNC VGNC:107335
Bos taurus FHDC1 VGNC VGNC:28997
Rattus norvegicus FHDC1 RGD RGD:1311955
Mus musculus FHDC1 MGD MGI:2684972
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