2. Gene
  3. MFRP - membrane frizzled-related protein Gene

MFRP - membrane frizzled-related protein Gene

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

中文名称：膜卷曲相关蛋白

种属: Homo sapiens

同用名: RD6; NNO2; CTRP5; MCOP5

基因 ID: 83552 | 基因类型: protein coding

关于 MFRP

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,338,942-119,346,705 (from NCBI)

This gene has 6 transcripts (splice variants), 159 orthologues, 35 paralogues and is associated with 7 phenotypes. Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues.

功能概要

该基因编码卷曲相关蛋白家族的一个成员。编码的蛋白质在眼睛发育中起重要作用，该基因的突变与纳米眼、后部小眼、色素性视网膜炎、中心凹劈裂和视盘玻璃膜疣有关。该蛋白质由双顺反子转录本编码，该转录本还编码 C1q 和肿瘤坏死因子相关蛋白 5 (C1QTNF5) 。[RefSeq 提供，2013 年 6 月]

This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]

MFRP 基因产物(1)

mRNA Protein Name
NM_031433.4 NP_113621.1 membrane frizzled-related protein
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
16600989 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

MFRP 蛋白结构

CUB

CUB: CUB domain (144 - 250)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (259 - 294)

CUB

CUB: CUB domain (301 - 411)

Fz

Fz: Fz domain (466 - 576)

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

membrane frizzled-related protein

C1q and TNF related 5

MFRP 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
种属间
MFRP Q9BY79 C1qtnf5 Mus musculus Q8K479
Anti Tag CoIP
17122143
种属内
MFRP Q9BY79 Q9BXJ0-PRO_0000003535 Homo sapiens Q9BXJ0-PRO_0000003535
Y2H
16600989
种属内
MFRP Q9BY79 Q9BXJ0-PRO_0000003535 Homo sapiens Q9BXJ0-PRO_0000003535
Pull Down
16600989
种属内
MFRP Q9BY79 Q9BXJ0-PRO_0000003535 Homo sapiens Q9BXJ0-PRO_0000003535
Confocal
16600989
种属内
MFRP Q9BY79 Q9BXJ0-PRO_0000003535 Homo sapiens Q9BXJ0-PRO_0000003535
Anti Tag CoIP
16600989
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
Microphthalmia, Isolated 5

Isolated Microphthalmia 5

MCOP5

Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Microphthalmia, Isolated, 5

Microphthalmia Mfrp-Related

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

Microphthalmia, Isolated, Type 5
Nanophthalmos 2

NNO2

Nanophthalmia 2

Nanophthalmos, Autosomal Recessive

Nanophthalmos, Type 2
Nanophthalmos

Nanophthalmia
Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Optic Disk Drusen

Optic Disc Drusen

Drusen Of Optic Disc

Optic Nerve Head Drusen

Drusen Optic Disc
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
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
Retinal Degeneration

Degeneration Of Retina
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-RS08386 MFRP 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 MFRP RGD RGD:1307477
Macaca mulatta MFRP VGNC VGNC:101351
Mus musculus MFRP MGD MGI:2385957
Bos taurus MFRP VGNC VGNC:31430
Felis catus MFRP VGNC VGNC:63473
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