Details for: LBR

Gene ID: 3930

Symbol: LBR

Ensembl ID: ENSG00000143815

Description: lamin B receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 126.8316
    Cell Significance Index: -32.1700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 92.0722
    Cell Significance Index: -37.4100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 87.7208
    Cell Significance Index: -41.4200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 82.5257
    Cell Significance Index: -42.4500
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 59.8540
    Cell Significance Index: -9.3100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.5840
    Cell Significance Index: -37.7900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 28.9386
    Cell Significance Index: -35.6800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.6084
    Cell Significance Index: -36.4600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.9619
    Cell Significance Index: -39.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.8167
    Cell Significance Index: -27.0800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.8537
    Cell Significance Index: -15.0000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.5111
    Cell Significance Index: 296.1400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.4676
    Cell Significance Index: 170.6500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.6514
    Cell Significance Index: 86.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.5539
    Cell Significance Index: 1403.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2226
    Cell Significance Index: 242.6300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.0234
    Cell Significance Index: 29.4900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.9986
    Cell Significance Index: 29.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9821
    Cell Significance Index: 55.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8270
    Cell Significance Index: 53.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7364
    Cell Significance Index: 132.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7004
    Cell Significance Index: 86.1300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6145
    Cell Significance Index: 37.7700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6003
    Cell Significance Index: 327.8400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5132
    Cell Significance Index: 55.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5029
    Cell Significance Index: 69.0600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4965
    Cell Significance Index: 22.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4935
    Cell Significance Index: 17.1500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4930
    Cell Significance Index: 10.6800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4709
    Cell Significance Index: 76.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3644
    Cell Significance Index: 130.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3512
    Cell Significance Index: 70.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3049
    Cell Significance Index: 8.5200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2365
    Cell Significance Index: 104.5800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.2023
    Cell Significance Index: 1.6500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1884
    Cell Significance Index: 130.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1659
    Cell Significance Index: 31.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1428
    Cell Significance Index: 2.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1277
    Cell Significance Index: 2.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1091
    Cell Significance Index: 2.9700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0663
    Cell Significance Index: 1.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0649
    Cell Significance Index: 11.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0519
    Cell Significance Index: 1.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0512
    Cell Significance Index: 5.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0486
    Cell Significance Index: 6.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0066
    Cell Significance Index: 12.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0048
    Cell Significance Index: -0.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0156
    Cell Significance Index: -11.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0170
    Cell Significance Index: -26.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0174
    Cell Significance Index: -32.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0200
    Cell Significance Index: -14.8000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0262
    Cell Significance Index: -0.2200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0268
    Cell Significance Index: -16.7500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0276
    Cell Significance Index: -37.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0295
    Cell Significance Index: -18.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0340
    Cell Significance Index: -25.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0414
    Cell Significance Index: -18.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0506
    Cell Significance Index: -28.5200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0543
    Cell Significance Index: -3.8400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0612
    Cell Significance Index: -1.9600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0828
    Cell Significance Index: -4.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1015
    Cell Significance Index: -21.3700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1030
    Cell Significance Index: -1.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1142
    Cell Significance Index: -32.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1146
    Cell Significance Index: -3.0600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1173
    Cell Significance Index: -13.6700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1217
    Cell Significance Index: -5.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1224
    Cell Significance Index: -14.0200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1408
    Cell Significance Index: -14.3800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1612
    Cell Significance Index: -4.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1742
    Cell Significance Index: -22.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2127
    Cell Significance Index: -14.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2242
    Cell Significance Index: -32.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2499
    Cell Significance Index: -11.6500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2532
    Cell Significance Index: -1.5300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2670
    Cell Significance Index: -30.4800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2710
    Cell Significance Index: -7.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2750
    Cell Significance Index: -28.6300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2777
    Cell Significance Index: -6.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3127
    Cell Significance Index: -24.0000
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.3351
    Cell Significance Index: -3.3800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3437
    Cell Significance Index: -8.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3540
    Cell Significance Index: -26.3800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3592
    Cell Significance Index: -8.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5018
    Cell Significance Index: -39.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5126
    Cell Significance Index: -32.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.5553
    Cell Significance Index: -33.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5751
    Cell Significance Index: -35.2600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6100
    Cell Significance Index: -26.9800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6291
    Cell Significance Index: -33.0300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7088
    Cell Significance Index: -26.8400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.7148
    Cell Significance Index: -10.2800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.7398
    Cell Significance Index: -10.9200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.7478
    Cell Significance Index: -8.1300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7682
    Cell Significance Index: -20.2000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.8446
    Cell Significance Index: -17.5200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8756
    Cell Significance Index: -25.7900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8794
    Cell Significance Index: -28.7900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8936
    Cell Significance Index: -28.4600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.8999
    Cell Significance Index: -19.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** LBR is a transmembrane protein with a large extracellular domain and a smaller intracellular domain. The extracellular domain contains a lamin-binding motif, which allows it to interact with lamin B, a component of the nuclear envelope. This interaction is crucial for the regulation of nuclear envelope dynamics and the initiation of nuclear envelope reformation. LBR also contains a cholesterol biosynthesis-related motif, which suggests its involvement in lipid metabolism. Additionally, LBR has been shown to interact with various signaling proteins, including Rho GTPases, which are involved in cell signaling and cytoskeletal organization. **Pathways and Functions** LBR is involved in several cellular pathways, including: 1. **Cell Cycle Regulation**: LBR plays a role in the regulation of the cell cycle, particularly during the G2/M phase. It interacts with cyclin-dependent kinases (CDKs) and other cell cycle regulators to control the progression of the cell cycle. 2. **Cholesterol Biosynthesis**: LBR is involved in the regulation of cholesterol biosynthesis, which is essential for the synthesis of steroid hormones and other lipids. 3. **Transcriptional Regulation**: LBR interacts with transcription factors, including meCP2, to regulate gene expression. MeCP2 is a protein involved in the development and maintenance of the nervous system, and its dysregulation has been implicated in various neurological disorders. 4. **Signaling by Rho GTPases**: LBR interacts with Rho GTPases, which are involved in cell signaling and cytoskeletal organization. This interaction is crucial for the regulation of cell shape, movement, and proliferation. **Clinical Significance** Dysregulation of LBR has been implicated in various diseases, including: 1. **Neurological Disorders**: LBR has been shown to interact with meCP2, and its dysregulation has been implicated in various neurological disorders, including Rett syndrome and autism spectrum disorder. 2. **Cancer**: LBR has been found to be overexpressed in several types of cancer, including leukemia and lymphoma. Its dysregulation has been implicated in cancer progression and metastasis. 3. **Immunological Disorders**: LBR has been found to be expressed on the surface of immune cells, including B cells and T cells. Its dysregulation has been implicated in various immunological disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, LBR is a multifunctional protein that plays a critical role in various cellular processes, including cell cycle regulation, cholesterol biosynthesis, and transcriptional regulation. Its dysregulation has been implicated in various diseases, including neurological disorders, cancer, and immunological disorders. Further studies are needed to fully understand the role of LBR in human disease and to develop therapeutic strategies to target its dysregulation.

Genular Protein ID: 79681096

Symbol: LBR_HUMAN

Name: Delta(14)-sterol reductase LBR

UniProtKB Accession Codes:

Q14739 B2R5P3 Q14740 Q53GU7 Q59FE6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 15 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 16 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRIDE 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 11 RefSeq 3 Rhea 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8157662

Title: Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane.

PubMed ID: 8157662

DOI: 10.1016/s0021-9258(19)78126-5

PubMed ID: 8157663

Title: Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane.

PubMed ID: 8157663

DOI: 10.1016/s0021-9258(19)78127-7

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9169472

Title: Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR.

PubMed ID: 9169472

DOI: 10.1074/jbc.272.23.14983

PubMed ID: 9630650

Title: Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae.

PubMed ID: 9630650

DOI: 10.1016/s0005-2760(98)00041-1

PubMed ID: 10049757

Title: SRPK1 and LBR protein kinases show identical substrate specificities.

PubMed ID: 10049757

DOI: 10.1006/bbrc.1999.0249

PubMed ID: 10828963

Title: Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker.

PubMed ID: 10828963

DOI: 10.1021/bi992908b

PubMed ID: 12118250

Title: Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly).

PubMed ID: 12118250

DOI: 10.1038/ng925

PubMed ID: 12618959

Title: Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

PubMed ID: 12618959

DOI: 10.1086/373938

PubMed ID: 15882967

Title: The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain.

PubMed ID: 15882967

DOI: 10.1016/j.bbrc.2005.04.016

PubMed ID: 16784888

Title: Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.

PubMed ID: 16784888

DOI: 10.1016/j.bbalip.2006.05.004

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21795390

Title: Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor.

PubMed ID: 21795390

DOI: 10.1091/mbc.e11-03-0199

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26009488

Title: Clnk plays a role in TNF-alpha-induced cell death in murine fibrosarcoma cell line L929.

PubMed ID: 26009488

DOI: 10.1016/j.bbrc.2015.05.046

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 32694168

Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.

PubMed ID: 32694168

DOI: 10.1242/jcs.245357

PubMed ID: 14617022

Title: Lamin B-receptor mutations in Pelger-Huet anomaly.

PubMed ID: 14617022

DOI: 10.1046/j.1365-2141.2003.04621.x

PubMed ID: 20522425

Title: LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

PubMed ID: 20522425

DOI: 10.1136/jmg.2009.071696

PubMed ID: 21327084

Title: Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

PubMed ID: 21327084

DOI: 10.4161/nucl.1.4.12435

PubMed ID: 23824842

Title: Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

PubMed ID: 23824842

DOI: 10.1002/ajmg.a.36019

PubMed ID: 25348816

Title: An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

PubMed ID: 25348816

DOI: 10.1002/ajmg.a.36808

PubMed ID: 27336722

Title: The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

PubMed ID: 27336722

DOI: 10.7554/elife.16011

Sequence Information:

  • Length: 615
  • Mass: 70703
  • Checksum: 5A7388776F43C66D
  • Sequence:
    • MPSRKFADGE VVRGRWPGSS LYYEVEILSH DSTSQLYTVK YKDGTELELK ENDIKPLTSF 
RQRKGGSTSS SPSRRRGSRS RSRSRSPGRP PKSARRSASA SHQADIKEAR REVEVKLTPL 
ILKPFGNSIS RYNGEPEHIE RNDAPHKNTQ EKFSLSQESS YIATQYSLRP RREEVKLKEI 
DSKEEKYVAK ELAVRTFEVT PIRAKDLEFG GVPGVFLIMF GLPVFLFLLL LMCKQKDPSL 
LNFPPPLPAL YELWETRVFG VYLLWFLIQV LFYLLPIGKV VEGTPLIDGR RLKYRLNGFY 
AFILTSAVIG TSLFQGVEFH YVYSHFLQFA LAATVFCVVL SVYLYMRSLK APRNDLSPAS 
SGNAVYDFFI GRELNPRIGT FDLKYFCELR PGLIGWVVIN LVMLLAEMKI QDRAVPSLAM 
ILVNSFQLLY VVDALWNEEA LLTTMDIIHD GFGFMLAFGD LVWVPFIYSF QAFYLVSHPN 
EVSWPMASLI IVLKLCGYVI FRGANSQKNA FRKNPSDPKL AHLKTIHTST GKNLLVSGWW 
GFVRHPNYLG DLIMALAWSL PCGFNHILPY FYIIYFTMLL VHREARDEYH CKKKYGVAWE 
KYCQRVPYRI FPYIY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.