1. Gene
  2. FZD4 - frizzled class receptor 4 Gene

FZD4 - frizzled class receptor 4 Gene

中文名称:卷曲类受体 4

种属: Homo sapiens

同用名: Fz4; EVR1; FEVR; Fz-4; FzE4; GPCR; hFz4; CD344; FZD4S

基因 ID: 8322 | 基因类型: protein coding

关于 FZD4

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:86,945,679-86,955,395 (from NCBI)

This gene has 1 transcript (splice variant), 209 orthologues, 15 paralogues and is associated with 5 phenotypes. Broad expression in fat (RPKM 98.6), kidney (RPKM 18.6) and 14 other tissues.

功能概要

该基因是卷曲基因家族的成员。该家族的成员编码七次跨膜结构域蛋白,这些蛋白是信号蛋白的 Wingless 型 MMTV 整合位点家族的受体。大多数 Frizzled 受体与 β-连环蛋白经典信号通路相耦合。该蛋白可能作为 Wingless 型 MMTV 整合位点信号通路的正调节剂发挥作用。已经描述了保留内含子序列并编码较短同种型的转录变体,但是,其他实验证据不支持其表达。[RefSeq 提供,2008 年 7 月]

This gene is a member of the Frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most Frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]

FZD4 基因产物(1)

mRNA Protein Name
NM_012193.4 NP_036325.2 frizzled-4 precursor

FZD4 蛋白结构

Fz

Fz: Fz domain (45 - 159)

Frizzled

Frizzled: Frizzled/Smoothened family membrane region (210 - 512)

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

frizzled-4

WNT receptor frizzled-4

重组 FZD4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74140 Frizzled-4/CD344 Protein, Human (HEK293, His) Q9ULV1 (F37-E180) ≥95%
HY-P74141 Frizzled-4/CD344 Protein, Human (HEK293, Fc) Q9ULV1 (M1-E180) ≥95%

关联疾病

疾病名称 别名
Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Norrie Disease

Atrophia Bulborum Hereditaria

Episkopi Blindness

Pseudoglioma

ND

Norrie-Warburg Disease

Anderson-Warburg Syndrome

Fetal Iritis Syndrome

Norrie Syndrome

Norrie-Warburg Syndrome

Ndp

Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

Norrie'S Disease

Oligophrenia Microphthalmus

Pseudoglioma Congenita

Whitnall-Norman Syndrome

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Vitreoretinopathy
Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility

Leukocoria

Leucocoria

Retinal Telangiectasia
Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome

Retinal Vascular Disease

Retinal Vascular

Retinal Vascular Disorder

Retina Circulation Disorder

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Vitreous Disease

Disorder Of Vitreous Body

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

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

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 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
Macaca mulatta FZD4 VGNC VGNC:72836
Felis catus FZD4 VGNC VGNC:102891
Mus musculus FZD4 MGD MGI:108520
Canis familiaris FZD4 VGNC VGNC:41032
Rattus norvegicus FZD4 RGD RGD:71017
Bos taurus FZD4 VGNC VGNC:29168
Others FZD4 NCBI