1. Gene
  2. FZD9 - frizzled class receptor 9 Gene

FZD9 - frizzled class receptor 9 Gene

中文名称:卷曲类受体 9

种属: Homo sapiens

同用名: FZD3; CD349

基因 ID: 8326 | 基因类型: protein coding

关于 FZD9

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,433,778-73,436,120 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and 15 paralogues.

功能概要

“frizzled”基因家族的成员编码 7 个跨膜结构域蛋白,这些蛋白是 Wnt 信号蛋白的受体。 FZD9 基因位于 7 号染色体的 Williams 综合征常见缺失区,FZD9 基因的杂合缺失可能导致 Williams 综合征表型。 FZD9 主要在大脑、睾丸、眼睛、骨骼肌和肾脏中表达。[RefSeq 提供,2008 年 7 月]

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]

FZD9 基因产物(1)

mRNA Protein Name
NM_003508.3 NP_003499.1 frizzled-9 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Wnt-protein binding IPI
IPI: 通过物理相互作用推断
19038973 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
14688793 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
14688793 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of neuron apoptotic process IMP
IMP: 通过突变表型推断
27509850 GOA
involved in positive regulation of neural precursor cell proliferation IMP
IMP: 通过突变表型推断
27509850 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
27509850 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
20458727 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19038973 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
19038973 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

FZD9 蛋白结构

Fz

Fz: Fz domain (39 - 153)

Frizzled

Frizzled: Frizzled/Smoothened family membrane region (222 - 545)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 591 a.a.
蛋白主名 其他名称

frizzled-9

frizzled 9, seven transmembrane spanning receptor

FZD9 抗体

目录号 产品名 应用 反应物种
HY-P82185 Frizzled 9 Antibody (YA1930) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome

OSCS

Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome

Os-Cs

Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease

Osc

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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
Felis catus FZD9 VGNC VGNC:62407
Macaca mulatta FZD9 VGNC VGNC:81313
Canis familiaris FZD9 VGNC VGNC:41035
Bos taurus FZD9 VGNC VGNC:29172
Mus musculus FZD9 MGD MGI:1313278
Rattus norvegicus FZD9 RGD RGD:628817
Others FZD9 NCBI