1. Gene
  2. LRP4 - LDL receptor related protein 4 Gene

LRP4 - LDL receptor related protein 4 Gene

中文名称:LDL 受体相关蛋白 4

种属: Homo sapiens

同用名: CLSS; CMS17; LRP-4; LRP10; MEGF7; SOST2

基因 ID: 4038 | 基因类型: protein coding

关于 LRP4

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:46,856,717-46,918,550 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues, 14 paralogues and is associated with 7 phenotypes. Broad expression in skin (RPKM 19.1), brain (RPKM 14.7) and 16 other tissues.

功能概要

该基因编码低密度脂蛋白受体相关蛋白家族的成员。编码的蛋白质可能是 Wnt 信号的调节剂。该基因的突变与 Cenani-Lenz 综合征有关。[RefSeq 提供,2010 年 5 月]

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

LRP4 基因产物(1)

mRNA Protein Name
NM_002334.4 NP_002325.2 low-density lipoprotein receptor-related protein 4 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 protein binding IPI
IPI: 通过物理相互作用推断
21471202 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amyloid-beta clearance by cellular catabolic process IMP
IMP: 通过突变表型推断
18289866 GOA
involved in kidney development IDA
IDA: 通过直接分析推断
20381006 GOA
involved in limb development IDA
IDA: 通过直接分析推断
20381006 GOA
involved in negative regulation of canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
20093106 GOA
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
20381006 GOA
involved in negative regulation of ossification IMP
IMP: 通过突变表型推断
21471202 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
20381006 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

LRP4 蛋白结构

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (27 - 66)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (69 - 105)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (109 - 142)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (147 - 182)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (190 - 225)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (230 - 265)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (269 - 304)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (310 - 349)

cEGF

cEGF: Complement Clr-like EGF-like (377 - 398)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (481 - 520)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (523 - 563)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (566 - 607)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (610 - 649)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (786 - 825)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (828 - 866)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (871 - 912)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (915 - 954)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (957 - 996)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (1006 - 1043)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1093 - 1132)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1136 - 1176)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1179 - 1219)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (1313 - 1348)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1397 - 1437)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1440 - 1480)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1483 - 1524)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1527 - 1563)

  • 0
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  • 900
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  • 1500
  • 1800
  • 1905 a.a.
蛋白主名 其他名称

low-density lipoprotein receptor-related protein 4

multiple epidermal growth factor-like domains 7

LRP4 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
LRP4 O75096 SOST Homo sapiens Q9BQB4
ELISA
21471202
种属内
LRP4 O75096 SOST Homo sapiens Q9BQB4
SPR
21471202
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
Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii

Myasthenic Syndrome, Congenital, 17

CMS17

Congenital Myasthenic Syndrome 17

Myasthenic Syndrome, Congenital, Type 17

Sclerosteosis 2

SOST2

Sclerosteosis, Type 2

Sclerosteosis

Cortical Hyperostosis With Syndactyly

Sost

Cortical Hyperostosis-Syndactyly Syndrome

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Mobitz Type Ii Atrioventricular Block

Mobitz Ii Atrioventricular Block

Mobitz Ii Atrioventricular Block

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Neonatal Myasthenia Gravis

Myasthenia Gravis, Neonatal

Thymus Squamous Cell Carcinoma

Epidermoid Thymic Carcinoma

Thymic Squamous Cell Carcinoma

Van Buchem Disease

Hyperostosis Corticalis Generalisata

Hyperphosphatasemia Tarda

VBCH

Sost-Related Sclerosing Bone Dysplasia

Endosteal Hyperostosis Autosomal Recessive

Sclerosteosis

Endosteal Hyperostosis, Autosomal Recessive

Hyperotosis Corticalis Generalisata Familiaris

Sost Sclerosing Bone Dysplasia

Smith-Lemli-Opitz Syndrome

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Synostosis
Chiari Malformation
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Sclerosteosis 1

SOST1

Sost

Cortical Hyperostosis With Syndactyly

Sclerosteosis

Sclerosteosis, Type 1

Thymus Gland Disease

Disease Of Thymus Gland

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer

Internuclear Ophthalmoplegia

Ophthalmoplegia Internuclearis

Bielschowsky-Lutz-Cogan Syndrome

Ino - [Internuclear Ophthalmoplegia]

Lhermitte Syndrome

Mlf - [Medial Longitudinal Fasciculus] Syndrome

Internuclear Paralysis

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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 LRP4 VGNC VGNC:68089
Canis familiaris LRP4 VGNC VGNC:42777
Macaca mulatta LRP4 VGNC VGNC:74445
Rattus norvegicus LRP4 RGD RGD:619731
Bos taurus LRP4 VGNC VGNC:30992
Mus musculus LRP4 MGD MGI:2442252
Others LRP4 NCBI