LBR - lamin B receptor Gene

Also Known as PHA; C14SR; LMN2R; PHASK; TDRD18; DHCR14B

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 3930

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables NADPH binding	IMP IMP: Inferred from mutant phenotype	27336722	GOA
enables chromo shadow domain binding	IPI IPI: Inferred from physical interaction	15882967	GOA
enables delta14-sterol reductase activity	IDA IDA: Inferred from direct assay	9630650	GOA
enables delta14-sterol reductase activity	IMP IMP: Inferred from mutant phenotype	12618959	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8663349	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	16784888	GOA
involved in cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	27336722	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytoplasm	IDA IDA: Inferred from direct assay	21327084	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	21327084	GOA
located in membrane	IDA IDA: Inferred from direct assay	15698635	GOA
is active in nuclear inner membrane	IDA IDA: Inferred from direct assay	32694168	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21327084	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LBR Protein Structure

LBR_tudor

ERG4_ERG24

0
100
200
300
400
500
615 a.a.

Protein Preferred Names	Protein Names
delta(14)-sterol reductase LBR	3-beta-hydroxysterol Delta (14)-reductase

LBR Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	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

Cross: Cross-species interaction Intra: Intraspecies interaction

LBR 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83406	Lamin B Receptor Antibody (YA3151)	WB, IHC-P, ICC/IF, FC	Human, Rat
HY-P83406A	Lamin B Receptor Antibody (YA3151)(PBS only)	WB, IHC-P, ICC/IF, FC	Human, Rat

関連疾患

Diseases	Alias
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]

Diseases	Alias
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

Related Agents

Approval
Pre-clinical Phase

Approval

阻害性抗体 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P99019	Fremanezumab	Inhibitor	95.00%	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS07545	LBR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	LBR	NCBI