1. Gene
  2. LBR - lamin B receptor Gene

LBR - lamin B receptor Gene

中文名称:核纤层蛋白 B 受体

种属: Homo sapiens

同用名: PHA; C14SR; LMN2R; PHASK; TDRD18; DHCR14B

基因 ID: 3930 | 基因类型: protein coding

关于 LBR

Cytogenetic location: 1q42.12 Genomic coordinates (GRCh38): 1:225,401,502-225,428,821 (from NCBI)

This gene has 9 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in lymph node (RPKM 40.2), bone marrow (RPKM 33.5) and 23 other tissues.

功能概要

该基因编码的蛋白质属于 ERG4/ERG24 家族。它定位于核膜内膜并将层和异染色质固定在膜上。它可能介导染色质和核纤层蛋白 B 之间的相互作用。该基因的突变与常染色体隐性遗传 HEM/Greenberg 骨骼发育不良有关。选择性剪接发生在该位点,并且已经鉴定出编码相同蛋白质的两个转录本变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

LBR 基因产物(2)

mRNA Protein Name
NM_002296.4 NP_002287.2 delta(14)-sterol reductase LBR
NM_194442.3 NP_919424.1 delta(14)-sterol reductase LBR
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 NADPH binding IMP
IMP: 通过突变表型推断
27336722 GOA
enables chromo shadow domain binding IPI
IPI: 通过物理相互作用推断
15882967 GOA
enables delta14-sterol reductase activity IDA
IDA: 通过直接分析推断
9630650 GOA
enables delta14-sterol reductase activity IMP
IMP: 通过突变表型推断
12618959 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8663349 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol biosynthetic process IDA
IDA: 通过直接分析推断
16784888 GOA
involved in cholesterol biosynthetic process IMP
IMP: 通过突变表型推断
27336722 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
21327084 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
21327084 GOA
located in membrane IDA
IDA: 通过直接分析推断
15698635 GOA
is active in nuclear inner membrane IDA
IDA: 通过直接分析推断
32694168 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21327084 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

LBR 蛋白结构

LBR_tudor

LBR_tudor: Lamin-B receptor of TUDOR domain (1 - 55)

ERG4_ERG24

ERG4_ERG24: Ergosterol biosynthesis ERG4/ERG24 family (201 - 615)

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

delta(14)-sterol reductase LBR

3-beta-hydroxysterol Delta (14)-reductase

LBR 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
Intra LBR Q14739 C1QBP Homo sapiens Q07021
Anti Tag CoIP
35271311
Intra LBR Q14739 ZNF579 Homo sapiens Q8NAF0
Anti Tag CoIP
28514442
Intra LBR Q14739 ZNF579 Homo sapiens Q8NAF0
Anti Tag CoIP
33961781
Intra LBR Q14739 CBX3 Homo sapiens Q13185
Anti Bait CoIP
8663349
Intra LBR Q14739 CBX3 Homo sapiens Q13185
Pull Down
8663349
Intra LBR Q14739 CBX5 Homo sapiens P45973
Pull Down
8663349
Intra LBR Q14739 CBX5 Homo sapiens P45973
Anti Bait CoIP
8663349
Intra LBR Q14739 CBX5 Homo sapiens P45973
Y2H
8663349
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
Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly

Regressive Spondylometaphyseal Dysplasia

Pelger-Huet Anomaly With Mild Skeletal Anomalies

PHASK

SKPHA

Rhizomelic Skeletal Dysplasia Without Pelger-Huet Anomaly

Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Reynolds Syndrome

Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, And Telangiectasia

Primary Biliary Cirrhosis And Systemic Scleroderma

REYNS

Primary Biliary Cirrhosis Scleroderma Raynaud Disease And Telangiectasia

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy

Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]

Tetanus

Lockjaw

Clostridial Tetanus

Infection Due To Clostridium Tetani

Lock-Jaw

Hyperalphalipoproteinemia 1

Hyperalphalipoproteinemia

HALP1

Cetp Deficiency

Cholesterol-Ester Transfer Protein Deficiency

Familial Hyperalphalipoproteinemia

Cholesteryl Ester Transfer Protein Deficiency

Cept Deficiency

Cholesterol Ester Transfer Protein Deficiency

Echinococcosis

Hydatidosis

Echinococcal Disease

Echinococcosis Of Liver

Hepatic Echinococcosis

Hydatid Disease

Liver Echinococcus

Pulmonary Echinococcosis

Hydatids

Echinococcosis, Hepatic

Echinococcosis, Pulmonary

Unilocular Echinococcosis

Echinococcus Disease

Echinococcus Granulosus Infection

Echinococcus Multilocularis Infection

Dog Tapeworm Infection

Echinococcus Granulosus Infestation

Echinococciasis

Cystic Echinococcosis

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly

SRTD10

Short-Rib Thoracic Dysplasia 10 Without Polydactyly

Short Rib-Polydactyly Syndrome

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Buschke-Ollendorff Syndrome

BOS

Dermatoosteopoikilosis

Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

Osteopathia Condensans Disseminata

Dermatofibrosis Lenticularis Disseminata

Disseminated Dermatofibrosis With Osteopoikilosis

Dermatofibrosis, Disseminated, With Osteopoikilosis

Osteopoikilosis With Or Without Melorheostosis

Dermatofibrosis, Disseminated With Osteopoikilosis

Dermatofibrosis Disseminata Lenticularis

Isolated Osteopoikilosis

Osteopoikilosis, Isolated

Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

ADLD

Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy

Leukodystrophy, Adult-Onset, Autosomal Dominant

Adult-Onset Autosomal Dominant Leukodystrophy

Autosomal Dominant Leukodystrophy With Autonomic Disease

Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy

Multiple Sclerosis-Like Disorder

Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly

Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type

Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms

Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy

Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset

Pelizaeus-Merzbacher Disease Autosomal Dominant

Pelizaeus-Merzbacher Disease Late-Onset Type

Adult Onset Autosomal Dominant Leukodystrophy

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency

Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease, Type 2b1

CMT2B1

Autosomal Recessive Axonal Cmt4c1

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease Neuronal Type 2b1

Charcot-Marie-Tooth Neuropathy Type 2b1

Charcot-Marie-Tooth Disease, Neuronal, Type 2b1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1

Charcot-Marie-Tooth Neuropathy, Type 2b1

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1

Ar-Cmt2b1

Charcot-Marie-Tooth Disease 2b1

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1

Charcot-Marie-Tooth Disease Axonal Type 2b1

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

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
Rattus norvegicus LBR RGD RGD:620813
Bos taurus LBR VGNC VGNC:30804
Mus musculus LBR MGD MGI:2138281
Canis familiaris LBR VGNC VGNC:42602
Macaca mulatta LBR VGNC VGNC:97785