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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LMNB1 Gene

protein-coding GIFtS: 65
GCID: GC05P126112

lamin B1

Explore 42 diseases affiliated with
LMNB1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Lamin B1¹ ²
LMN2² ³
LMNB² ³
ADLD²
LMN²
Lamin-B1¹

External Ids:	HGNC: 6637¹	Entrez Gene: 4001²	Ensembl: ENSG00000113368⁷	OMIM: 150340⁵	UniProtKB: P20700³

Export aliases for LMNB1 gene to outside databases

Previous GC identifers: GC05P125650 GC05P126548 GC05P126143 GC05P126188 GC05P126189 GC05P126140 GC05P121304

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LMNB1:

The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The

lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix

is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in

nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene

encodes one of the two B type proteins, B1. Alternative splicing results in transcript variants and a duplication of

this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). (provided by RefSeq, Oct 2010)

UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700

Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear

membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin

Gene Wiki entry for LMNB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LMNB1 gene promoter:
HOXA9B HOXA9 AhR YY1 CREB deltaCREB Meis-1a Pax-4a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LMNB1 promoter sequence

Search SABiosciences Chromatin IP Primers for LMNB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMNB1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.2 Ensembl cytogenetic band: 5q23.2 HGNC cytogenetic band: 5q23.2

LMNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMNB1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P126112: view genomic region (about GC identifiers)

Start:	126,112,315 bp from pter	End:	126,172,712 bp from pter
Size:	60,398 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700 (See protein sequence)

Recommended Name: Lamin-B1 precursor

Size: 586 amino acids; 66408 Da

Subunit: Homodimer. Interacts with lamin-associated polypeptides IA, IB and 2

Subcellular location: Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side

Miscellaneous: The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the

disintegration and formation of the nuclear envelope in prophase and telophase, respectively

4 PDB 3D structures from and Proteopedia for LMNB1:

2KPW (3D)

3JT0 (3D)

3TYY (3D)

3UMN (3D)

Secondary accessions: B2R6J6 Q3SYN7 Q96EI6

Explore the universe of human proteins at neXtProt for LMNB1: NX_P20700

Post-translational modifications:

B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation

of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P20700

LMNB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001185486.1 NP_005564.1

ENSEMBL proteins:

ENSP00000261366 ENSP00000378761

Reactome Protein details: P20700
Human Recombinant Protein Products:

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	Novus Biologicals LMNB1 Proteins Novus Biologicals LMNB1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LMNB1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005635	nuclear envelope	TAS	--
GO:0005637	nuclear inner membrane	IEA	--
GO:0005638	lamin filament	IEA	--
GO:0005654	nucleoplasm	IEA	--

LMNB1 for ontologies About GeneDecksing

LMNB1 Antibody Products:

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	ThermoFisher Antibodies for LMNB1

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	Uscn ELISAs and CLIAs for LMNB1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LMNB1 for domains About GeneDecksing

4 InterPro domains/families:

IPR018039 Intermediate_filament_CS

IPR001664 IF

IPR016044 F

IPR001322 Lamin_tail_dom

Graphical View of Domain Structure for InterPro Entry P20700

ProtoNet protein and cluster: P20700

2 Blocks protein families:

IPB001322 Intermediate filament

IPB001664 Intermediate filament protein

UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700

Similarity: Belongs to the intermediate filament family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700

Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear

membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin

Genatlas biochemistry entry for LMNB1:

lamin,type B1

miRNA Products:		miRTarBase miRNAs that target LMNB1: hsa-mir-373 (MIRT002510)

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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNB1:
		hsa-miR-569 hsa-miR-4251 hsa-miR-3065-3p hsa-miR-218 hsa-miR-636
		SwitchGear 3'UTR luciferase reporter plasmid: LMNB1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMNB1 (see all 7) OriGene shRNA RFP: LMNB1 OriGene siRNA: LMNB1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMNB1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LMNB1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		Search LifeMap BioReagents cell lines for LMNB1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNB1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	IEA	--
GO:0043274	phospholipase binding	IEA	--

LMNB1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for LMNB1:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Lmnb1^tm1Yxz for LMNB1
10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Lmnb1):

cellular	craniofacial	embryogenesis	growth/size	integument
mortality/aging	muscle	nervous system	respiratory system	skeleton

LMNB1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptosis and survival_Caspase cascade

Apoptosis and survival_Caspase cascade	1.00	Apoptosis and survival FAS signaling cascades	0.44
Apoptosis and survival Caspase cascade	1.00	Caspase cascade in apoptosis	0.42
Apoptosis and survival_FAS signaling cascades	0.44	FAS pathway and Stress induction of HSP regulation	0.33

Clearance of Nuclear Envelope Membranes from Chromatin

Clearance of Nuclear Envelope Membranes from Chromatin	1.00	Nuclear Envelope Breakdown	0.56
Initiation of Nuclear Envelope Reformation	0.69	Mitotic Prophase	0.26
Nuclear Envelope Reassembly	0.69

M Phase

	M Phase	1.00			Mitotic Metaphase and Anaphase	0.85
	Mitotic M-M/G1 phases	0.88			Mitotic Anaphase	0.85

Meiotic Synapsis

	Meiotic Synapsis	1.00			Meiosis	0.70
	Telomere clustering at the nuclear membrane	0.82			Chromosome Maintenance	0.56

Cell Cycle

Cell Cycle

1.00

Cell Cycle, Mitotic

0.84

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for LMNB1

	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNB1

	Caspase Cascade
	Granzyme-B Pathway
	Granzyme Pathway
	Fas Signaling

2 Cell Signaling Technology (CST) Pathways for LMNB1

	Apoptosis and Autophagy
	Cytoskeletal Signaling

2 GeneGo (Thomson Reuters) Pathways for LMNB1

	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades

2 BioSystems Pathways for LMNB1

	FAS pathway and Stress induction of HSP regulation
	Caspase cascade in apoptosis

5/19 Reactome Pathways for LMNB1 (see all 19)

	Initiation of Nuclear Envelope Reformation
	Clearance of Nuclear Envelope Membranes from Chromatin
	Cell Cycle
	M Phase
	Apoptosis

LMNB1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LMNB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/107 Interacting proteins for LMNB1 (P20700^{2, 3} ENSP00000261366⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 107)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³	MINT-3297843 I2D: score=1
PASK	Q96RG2²^,³, ENSP00000234040⁴	MINT-8148997 I2D: score=1 STRING: ENSP00000234040
LMNA	P02545³, ENSP00000357283⁴	I2D: score=7 STRING: ENSP00000357283
PRKCB	P05771³, ENSP00000305355⁴	I2D: score=3 STRING: ENSP00000305355
TMPO	P42166³, ENSP00000266732⁴	I2D: score=3 STRING: ENSP00000266732

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	--

LMNB1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LMNB1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LMNB1
7 Novoseek chemical compound relationships for LMNB1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adpribose	48.1	2	19103313 (1)
etoposide	24.4	2	9846182 (1), 9242521 (1)
paclitaxel	21.3	2	8853905 (1)
ionomycin	17.9	3	12851674 (2), 12883646 (1)
phosphatidylserine	10.5	1	9846182 (1)
tyrosine	0	1	16547650 (1)
cysteine	0	2	8798402 (1), 9701026 (1)

Search CenterWatch for drugs/clinical trials and news about LMNB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LMNB1 gene (2 alternative transcripts):

NM_001198557.1 NM_005573.3

Unigene Cluster for LMNB1:

Lamin B1

Hs.89497 [show with all ESTs]

Unigene Representative Sequence: BC052951

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000460265(uc003kud.2 uc010jdb.2) ENST00000261366(uc011cxb.2)

ENST00000504788 ENST00000492190 ENST00000472034 ENST00000395354 ENST00000463908

ENST00000494185 ENST00000512460 ENST00000484340

miRNA Products:		OriGene 3'-UTR Clone: LMNB1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNB1
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNB1:
		hsa-miR-569 hsa-miR-4251 hsa-miR-3065-3p hsa-miR-218 hsa-miR-636
		SwitchGear 3'UTR luciferase reporter plasmid: LMNB1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMNB1

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		GenScript: all cDNA clones in your preferred vector (see all 2): LMNB1 (NM_005573)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMNB1
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNB1

Additional cDNA sequence:

AK303084.1 AK312603.1 BC012295.1 BC052951.1 BC078178.1 BC103723.1 M34458.1

13 DOTS entries:

DT.413756 DT.97781517 DT.100735104 DT.97858787 DT.102823924 DT.207508 DT.100811642 DT.101975662

DT.120870098 DT.91654824 DT.95276715 DT.97858788 DT.75167929

24/136 AceView cDNA sequences (see all 136):

BU193467 T27734 BM451853 AI351040 M34458 NM_005573 BX118127 BI906235

AA911806 CN478984 AA974338 BP338663 AW237170 BU509231 CR609276 AI203152

BP339477 BM475894 AL515082 BX390976 BX437732 AL713004 AI524371 BM455006

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LMNB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGAGGGTGG

About this image

LMNB1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Kidney

S-shaped Body

Kidney Endothelial Cells

Endothelium

Brain

Hypothalamus

Brain

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LMNB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LMNB1

SOURCE GeneReport for Unigene cluster: Hs.89497

SABiosciences Expression via Pathway-Focused PCR Array including LMNB1:

TNF Ligands & Receptors in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNB1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNB1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LMNB1 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lmnb1^{1 , 5}	lamin B1^{1, 5}	88.4(n)¹ 96.25(a)¹		18 (30.84 cM)⁵ 16906¹ NM_010721.2¹ NP_034851.2¹ 56707813⁵
chicken (Gallus gallus)	Aves	LMNB1¹	lamin B1	77.38(n) 79.73(a)		396223 NM_205286.1 NP_990617.1
lizard (Anolis carolinensis)	Reptilia	LMNB1⁶	--	86(a)	1 ↔ 1	2(29307471-29333166)
African clawed frog (Xenopus laevis)	Amphibia	LOC397911²	lamin L(I) mRNA	75.97(n)		X06344.1
zebrafish (Danio rerio)	Actinopterygii	lmnb1²	lamin B1	77.72(n)		195816 BC044402.1
fruit fly (Drosophila melanogaster)	Insecta	LamC³ Lam¹	nuclear envelope reassembly³ Lamin¹	36(a) (best of 2)³ 47.74(n)¹ 38.08(a)¹		51B1³ 33782¹ NM_057268.4¹ NP_476616.1¹
worm (Caenorhabditis elegans)	Secernentea	lmn-1^{1 , 3}	Intermediate filament proteins (2 domains)³ Protein LMN-1¹	32(a) (best of 5)³ 44.68(n)¹ 34.43(a)¹		I(8771116-8773244)³ 172687¹ NM_059970.3¹ NP_492371.1¹

ENSEMBL Gene Tree for LMNB1 (if available)
TreeFam Gene Tree for LMNB1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LMNB1 gene

SYNM² VIM² INA² LMNA² NES² PRPH² DES² NEFM²

LMNB2² NEFH² GFAP²

7 SIMAP similar genes for LMNB1 using alignment to 4 protein entries: LMNB1_HUMAN (see all proteins):

LMNB2 LMNA DES KRTHB6 PRPH KRTHB1

VIM

LMNB1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2230151^1,2	C,F,H,	untested	146589654(+)	`TCTTCC/TTCAAA`	2	--	ut3¹		8	MN NS EA WA NA EU	2021
rs36105360^1,2	C,F,	untested	146599937(-)	`CGTTTG/ACAGCC`	4	/A /V	mis¹		5	NA EU	5899
rs61726489^1,2	C,F,	untested	146614118(+)	`ACTTCT/CACTGT`	4	/S	syn¹		2	NA EU	5871
rs3749830^1,2	C,F,H,	untested	146621111(-)	`GCTTCA/GTATTC`	3	Y	syn¹ ut5¹		23	EA NA NS WA EU	9925
rs62391730^1,2	C,	--	121302672(+)	`TAAGAT/CTACTT`	1	--	us2k¹		3	NA EA	242
rs2941663^1,2	F,H,	--	121302702(+)	`TTTTCG/AATTCT`	1	--	us2k¹		5	NS EA WA	538
rs76245759^1,2		--	121304076(+)	`GAAACG/TGATTA`	2	--	us2k¹		1	CSA	2
rs75956181^1,2	F,	--	121304079(+)	`ACGGAT/CTAGGA`	2	--	us2k¹		1	WA	118
rs77621267^1,2	F,	--	121304152(+)	`TCTATC/GGGCTT`	2	--	us2k¹		1	WA	118
rs3812062^1,2	C,F,H,	--	121304306(-)	`AGGCCG/TGGACG`	2	--	us2k¹		16	NS EA NA WA	2334

HapMap Linkage Disequilibrium report for LMNB1 (126112315 - 126172712 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for LMNB1
2 CNVs: 99291 64298
1 Indel: 27795
Human Gene Mutation Database (HGMD): LMNB1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LMNB1 for disorders           About GeneDecksing

OMIM gene information: 150340
OMIM disorders: 169500
UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700

Defects in LMNB1 are the cause of leukodystrophy demyelinating autosomal dominant adult-onset (ADLD)

[MIM:169500]. ADLD is a slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth

decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and

symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that

neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of

astrogliosis

20/42 diseases for LMNB1 (see all 42): About MalaCards

leukodystrophy, adult-onset, autosomal dominant leukodystrophy tethered spinal cord syndrome emery-dreifuss muscular dystrophy

dna topoisomerase i muscular dystrophy actinic keratosis reynolds syndrome

amyotrophic lateral sclerosis lupus erythematosus progeria lipodystrophy

chronic fatigue syndrome lateral sclerosis systemic lupus erythematosus papillary thyroid carcinoma

keratosis acute lymphoblastic leukemia basal cell carcinoma lymphoblastic leukemia

3 diseases from the University of Copenhagen DISEASES database for LMNB1:

Leukodystrophy Progeria Progressive muscular atrophy

10 Novoseek disease relationships for LMNB1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukodystrophy	80.8	11	19961535 (2), 19259393 (2), 17262031 (1), 16951681 (1) (see all 5)
partial lipodystrophy	79.3	1	17467691 (1)
progeria	78.8	2	20145110 (1)
lipodystrophy	47.5	2	20145110 (1)
muscular dystrophies	45.9	2	20145110 (1)
erythroleukemia	27.6	1	9989774 (1)
leukemia	7.11	1	16242777 (1)
lupus erythematosus systemic	0	1	12384929 (1)
colon cancer	0	1	10517909 (1)
cancer	0	1	12534602 (1)

Human Genome Epidemiology (HuGE) Navigator: LMNB1 (4 documents)

Export disorders for LMNB1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LMNB1 gene, integrated from 9 sources (see all 186):
(articles sorted by number of sources associating them with LMNB1)

Utopia: connect your pdf to the dynamic
world of online information

Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. (PubMed id 7557986)^{1, 2, 3, 9} Lin F. and Worman H.J. (1995)
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. (PubMed id 8838815)^{1, 3, 9} Wydner K.L....Lawrence J.B. (1996)
Crystal structures of the coil 2B fragment and the glo bular tail domain of human lamin B1. (PubMed id 22265972)^{1, 2} Ruan J....Zang J. (2012)
In vitro posttranslational modification of lamin B cloned from a human T-cell line. (PubMed id 2325650)^{1, 2} Pollard K.M....Glass C.A. (1990)
Cell surface expression of intermediate filament proteins vimentin and lamin B1 in human neutrophil spontaneous apoptosis. (PubMed id 16365157)^{1, 9} Moisan E. and Girard D. (2006)
The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking. (PubMed id 16283426)^{1, 9} Tunnah D....Morris G.E. (2005)
A carboxyl-terminal interaction of lamin B1 is dependent on the CAAX endoprotease Rce1 and carboxymethylation. (PubMed id 14504265)^{1, 9} Maske C.P....Vaux D.J. (2003)
Circulating Lamin B1 (LMNB1) biomarker detects early stages of liver cancer in patients. (PubMed id 19522540)^{1, 9} Sun S....Luk J.M. (2010)
A family with autosomal dominant leukodystrophy linke d to 5q23.2-q23.3 without lamin B1 mutations. (PubMed id 19961535)^{1, 9} Brussino A....Brusco A. (2010)
Lamin B1 maintains the functional plasticity of nucleoli. (PubMed id 19383719)^{1, 9} Martin C....Jackson D.A. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4001	HGNC: 6637	AceView: LMNB1	Ensembl:ENSG00000113368	euGenes: HUgn4001
ECgene: LMNB1	H-InvDB: LMNB1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LMNB1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LMNB1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for LMNB1 gene:
Search GeneIP for patents involving LMNB1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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