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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LBR Gene

protein-coding GIFtS: 61
GCID: GC01M225589

lamin B receptor

Explore 115 diseases affiliated with
LBR 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 B Receptor¹ ²		LMN2R² ³
DHCR14B¹ ²		PHA² ⁵
TDRD18¹ ²		Lamin-B Receptor²
Integral Nuclear Envelope Inner Membrane Protein² ³		Tudor Domain Containing 18²

External Ids:	HGNC: 6518¹	Entrez Gene: 3930²	Ensembl: ENSG00000143815⁷	OMIM: 600024⁵	UniProtKB: Q14739³

Export aliases for LBR gene to outside databases

Previous GC identifers: GC01M224071 GC01M221406 GC01M221996 GC01M222563 GC01M221895 GC01M223657 GC01M196108

(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 LBR:

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)

UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739

Function: Anchors the lamina and the heterochromatin to the inner nuclear membrane

Gene Wiki entry for LBR (Lamin B receptor)

(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_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LBR gene promoter:
c-Fos AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LBR promoter sequence

Search SABiosciences Chromatin IP Primers for LBR

Epigenetics:

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

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

Entrez Gene cytogenetic band: 1q42.1 Ensembl cytogenetic band: 1q42.12 HGNC cytogenetic band: 1q42.1

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M225589: view genomic region (about GC identifiers)

Start:	225,589,204 bp from pter	End:	225,616,627 bp from pter
Size:	27,424 bases	Orientation:	minus 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: LBR_HUMAN, Q14739 (See protein sequence)

Recommended Name: Lamin-B receptor

Size: 615 amino acids; 70703 Da

Subunit: Interacts directly with CBX5. Can interact with chromodomain proteins. Interacts directly with DNA.

Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than linear

DNA

Subcellular location: Nucleus inner membrane; Multi-pass membrane protein

Sequence caution: Sequence=BAD92751.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for LBR:

2DIG (3D)

Secondary accessions: B2R5P3 Q14740 Q53GU7 Q59FE6

Explore the universe of human proteins at neXtProt for LBR: NX_Q14739

Post-translational modifications:

Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the

lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane is

associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the

alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle.

Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation

with chromatin¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14739

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

REFSEQ proteins (2 alternative transcripts):

NP_002287.2 NP_919424.1

ENSEMBL proteins:

ENSP00000272163 ENSP00000415428 ENSP00000397817 ENSP00000388059 ENSP00000416554

ENSP00000339883

Reactome Protein details: Q14739
Human Recombinant Protein Products for LBR:

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	Novus Biologicals LBR Protein Novus Biologicals LBR Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LBR

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005635	nuclear envelope	TAS	--
GO:0005639	integral to nuclear inner membrane	TAS	8157662
GO:0005643	nuclear pore	--	--
GO:0005739	mitochondrion	IDA	--
GO:0016020	membrane	--	--

LBR for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for LBR

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

LBR for domains About GeneDecksing

4 InterPro domains/families:

IPR001171 Ergosterol_biosynth_ERG4_ERG24

IPR018083 Sterol_reductase_CS

IPR019023 Lamin-B_rcpt_of_tudor

IPR002999 Tudor

Graphical View of Domain Structure for InterPro Entry Q14739

ProtoNet protein and cluster: Q14739

3 Blocks protein families:

IPB001171 ERG4/ERG24 ergosterol biosynthesis protein

IPB002999 Tudor domain

IPB011024 Gamma-crystallin related

UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739

Domain: The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3 (By

similarity)

Similarity: Belongs to the ERG4/ERG24 family

Similarity: Contains 1 Tudor domain

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: LBR_HUMAN, Q14739

Function: Anchors the lamina and the heterochromatin to the inner nuclear membrane

Genatlas biochemistry entry for LBR:

lamin B receptor,integral protein of the nuclear enveloppe inner membrane,binding the lamina to chr

hetrerochromatin,ubiquitously expressed,LAP2 (lamina-associated protein 2) family

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0004872	receptor activity	--	--
GO:0005515	protein binding	IPI	8663349
GO:0005521	lamin binding	TAS	8157662
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA	--

LBR for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for LBR:

Lamellipodia cells

15/19 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Lbr) (see all 19):

adipose tissue	behavior/neurological	cellular	craniofacial	digestive/alimentary
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	limbs/digits/tail	mortality/aging	nervous system	no phenotypic analysis

LBR for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LBR

miRNA Products:		OriGene 3'-UTR Clone (see all 2): LBR Browse MicroRNA Expression Plasmids
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		8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate LBR (see all 35):
		hsa-miR-4307 hsa-let-7d hsa-miR-429 hsa-let-7g hsa-let-7a hsa-miR-23a hsa-miR-200b hsa-miR-181b

		SwitchGear 3'UTR luciferase reporter plasmid: LBR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LBR

(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 About this table

See pathways by source

Super-pathway

contained gene-specific pathways

cholesterol biosynthesis III (via desmosterol)

	cholesterol biosynthesis III (via desmosterol)	1.00			cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	1.00
	cholesterol biosynthesis I	1.00			zymosterol biosynthesis	0.46

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Cholesterol biosynthesis

Cholesterol biosynthesis

1.00

superpathway of cholesterol biosynthesis

0.81

Pathway sources
See GeneCards unified pathways
Show all pathways

5 BioSystems Pathways for LBR

	zymosterol biosynthesis
	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis III (via desmosterol)
	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
	cholesterol biosynthesis I

3 Reactome Pathways for LBR

	Metabolism
	Cholesterol biosynthesis
	Metabolism of lipids and lipoproteins

LBR for pathways About GeneDecksing

Interactions:

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

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

5/92 Interacting proteins for LBR (Q14739^{1, 2, 3} ENSP00000272163⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 92)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST2H4A	P62805³, ENSP00000358162⁴	I2D: score=1 STRING: ENSP00000358162
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1

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:0006695	cholesterol biosynthetic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

LBR 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

LBR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LBR
10/90 Novoseek chemical compound relationships for LBR gene (see all 90) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
con a	68.7	32	2054070 (3), 1997001 (3), 16286849 (2), 1657242 (2) (see all 23)
ionomycin	66.9	36	8299228 (3), 8098667 (3), 8586487 (3), 11841833 (2) (see all 22)
thymidine	63	41	1974593 (1), 8288318 (1), 10981527 (1), 2111191 (1) (see all 37)
okt3	62.4	23	2121373 (3), 1850412 (2), 1720644 (2), 7851005 (2) (see all 14)
3beta-hydroxysterol	56.8	7	16784888 (3)
phorbol 12,13-dibutyrate	43.7	14	8299228 (2), 8402922 (2), 16568834 (2), 7593202 (1) (see all 6)
cyclosporin a	31.9	21	2129797 (2), 10024969 (2), 11286127 (1), 8559498 (1) (see all 11)
calcium	26.3	50	7800684 (2), 7829128 (2), 1827986 (2), 8299228 (2) (see all 33)
sterol	25.7	16	9630650 (3), 19940018 (3), 9878250 (2), 12618959 (2) (see all 6)
sodium arsenite	23.2	3	7826813 (1), 8239717 (1), 7505101 (1)

Search CenterWatch for drugs/clinical trials and news about LBR

(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, Sirion Biotech, 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 LBR gene (2 alternative transcripts):

NM_002296.3 NM_194442.2

Unigene Cluster for LBR:

Lamin B receptor

Hs.435166 [show with all ESTs]

Unigene Representative Sequence: NM_002296

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

ENST00000272163(uc001hoy.3) ENST00000441022 ENST00000424022 ENST00000487054

ENST00000425080 ENST00000488632 ENST00000421383 ENST00000338179(uc001hoz.3)

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		8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate LBR (see all 35):
		hsa-miR-4307 hsa-let-7d hsa-miR-429 hsa-let-7g hsa-let-7a hsa-miR-23a hsa-miR-200b hsa-miR-181b

		SwitchGear 3'UTR luciferase reporter plasmid: LBR 3' UTR sequence

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Additional cDNA sequence:

AB209514.1 AK222834.1 AK303589.1 AK312258.1 BC020079.1 L25931.1

14 DOTS entries:

DT.87017006 DT.86843514 DT.95196450 DT.92002360 DT.87017009 DT.100817668 DT.95313391 DT.100692097

DT.100641937 DT.100817675 DT.91764211 DT.95196448 DT.95196451 DT.87017008

24/310 AceView cDNA sequences (see all 310):

AI358688 BX282173 AW192129 CA447160 AU137830 AI161010 AU129972 AA907156

AA314607 AW768253 AA442507 CA390899 AA452632 CR611515 AI207553 NM_002296

AL601685 AW590073 BQ018194 AU130258 BF434265 CB156205 BU682707 AI805399

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for LBR (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b
SP1:									-																								-
SP2:																													-
SP3:			-		-				-
SP4:									-
SP5:

ECgene alternative splicing isoforms for LBR

(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

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

About this image
See LBR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LBR

SOURCE GeneReport for Unigene cluster: Hs.435166
SABiosciences Custom PCR Arrays for LBR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LBR Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LBR

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LBR

(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 eukaryotes.

Orthologs for LBR gene from 10/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lbr^{1 , 5}	lamin B receptor^{1, 5}	79.24(n)¹ 80.33(a)¹		1 (84.89 cM)⁵ 98386¹ NM_133815.2¹ NP_598576.2¹ 181815316⁵
chicken (Gallus gallus)	Aves	LBR¹	lamin B receptor	68.8(n) 69.58(a)		396285 NM_205342.1 NP_990673.1
lizard (Anolis carolinensis)	Reptilia	LBR⁶	--	56(a)	1 ↔ 1	1(252035542-252061756)
African clawed frog (Xenopus laevis)	Amphibia	lbr-A²	lamin B receptor	75.5(n)		Y17842.1
zebrafish (Danio rerio)	Actinopterygii	AI979387.1²	--	73.71(n)		368360 AI979387.1
fruit fly (Drosophila melanogaster)	Insecta	LBR¹	Lamin B receptor	40.18(n) 28.98(a)		37482 NM_166484.1 NP_726114.1
worm (Caenorhabditis elegans)	Secernentea	dhcr-7⁶	Protein DHCR-7; Sterol reductase	23(a)	1 → many	V(20480761-20485354)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ERG24(YNL280C)⁴ ERG24¹	C-14 sterol reductase, acts in ergosterol biosynthesis; more⁴ Erg24p¹	50.87(n)¹ 44.14(a)¹		14(110411-109095)⁴ 855441^{1, 4} NP_014119.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	ELL1⁶	delta(14)-sterol reductase	40(a)	possible ortholog	3(19630198-19633296)
rice (Oryza sativa)	Liliopsida	-- --	delta14-sterol reductase, putative, expressed	36(a) 35(a)	possible ortholog possible ortholog	1(14223870-14232630) 9(22536132-22540257)

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

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

Paralogs for LBR gene

TM7SF2² DHCR7²

2 SIMAP similar genes for LBR using alignment to 5 protein entries: LBR_HUMAN (see all proteins):

TM7SF2 DHCR7

LBR 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200180113^1,2	C	pathogenic	200873778(+)	`TTCACA/GGCCAA`	5	R C	us2k¹ mis¹		0	--	--	--	--
rs74146923^1,2	C	--	196107725(+)	`GAGGTG/TAAGCT`	2	--	int¹		2		WA	120
rs76157954^1,2		--	196107848(+)	`GTACTA/GTCTTT`	2	--	int¹		0	--	--	--	--
rs112847128^1,2		--	196108320(+)	`ACCAGG/AGAAAG`	2	--	ut3¹		1		CSA	2
rs7406^1,2	C,F,O,A,H	--	196108438(-)	`CTAATG/ATGTGC`	2	--	ut3¹ ese³		30		NS MN NA EA WA CSA	2780
rs14205^1,2	C,F,O,H	--	196108609(-)	`TTTAAT/CTACAC`	2	--	ut3¹ ese³		27		NS MN EA NA WA	2836
rs75904736^1,2	F	--	196109201(+)	`CTAATT/AGTTCC`	2	--	ut3¹		1		NA	120
rs80028106^1,2	F	--	196109314(+)	`CTGTAC/TAAAAA`	2	--	ut3¹		1		NA	120
rs16844841^1,2	C,F,H	--	196109640(+)	`AAAGTA/CATCAG`	2	--	ut3¹ ese³		10		NA NS EA WA	874
rs11551874^1,2	C,F,H	--	196109715(+)	`ATTAAG/CGGTTG`	2	--	ut3¹		13		NA NS EA CSA	1102

HapMap Linkage Disequilibrium report for LBR (225589204 - 225616627 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LBR: --
Human Gene Mutation Database (HGMD): LBR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LBR

DNA2.0 Custom Variant and Variant Library Synthesis for LBR

(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

LBR for disorders           About GeneDecksing

OMIM gene information: 600024
OMIM disorders: 169400  215140  613471
UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739

Defects in LBR are a cause of Pelger-Huet anomaly (PHA) [MIM:169400]. PHA is an autosomal dominant inherited

abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin

structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals

have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities

Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM)

[MIM:215140]; also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy

characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically

present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and

may present with polydactyly and additional nonskeletal malformations

Defects in LBR may be a cause of Reynolds syndrome (REYNS) [MIM:613471]. It is a syndrome specifically

associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease,

telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud

phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice,

hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent

with primary biliary cirrhosis

20/115 diseases for LBR (see all 115): About MalaCards

hydrops, ectopic calcification, moth-eaten skeletal dysplasia pelger-huet anomaly emery-dreifuss muscular dystrophy dopa-responsive dystonia

interferon gamma, receptor 1, deficiency large granular lymphocyte leukemia paroxysmal nocturnal hemoglobinuria progressive multifocal leukoencephalopathy

t-cell large granular lymphocyte leukemia localized ewing's sarcoma sclerosing cholangitis allergic contact dermatitis

common variable immunodeficiency contact dermatitis toxic shock syndrome primary sclerosing cholangitis

viral hemorrhagic fever chronic fatigue syndrome non-hodgkin lymphoma lymphocytes absent

5 diseases from the University of Copenhagen DISEASES database for LBR:

Metabolic acidosis Pelger-Huet anomaly Paranoid personality disorder Schizotypal personality disorder

Primary biliary cirrhosis

10/63 Novoseek disease relationships for LBR gene (see all 63) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pelger-huet anomaly	74.1	5	14617022 (2), 12618959 (1), 15724491 (1)
necrosis	46.3	23	9698426 (1), 11729831 (1), 18288269 (1), 9020407 (1) (see all 23)
tetanus	41.3	14	1643425 (2), 8223849 (1), 11357954 (1), 10744782 (1) (see all 12)
immunodeficiency	38.5	4	8658055 (1), 9588845 (1), 7532407 (1), 9311806 (1)
biliary cirrhosis primary	35.7	5	20522425 (1), 7515343 (1), 8425102 (1), 8157662 (1) (see all 5)
lymphopenia	35.1	1	8761000 (1)
skeletal dysplasia	27.6	4	16784888 (1), 18382993 (1), 19940018 (1)
rheumatoid arthritis	20	3	1393371 (1), 7821975 (1), 2113447 (1)
leukemia	19.1	8	8640841 (2), 1693168 (1), 10077340 (1), 7691315 (1) (see all 6)
dermatitis atopic	18.2	5	1531123 (2), 10981527 (1)

Human Genome Epidemiology (HuGE) Navigator: LBR (3 documents)

Export disorders for LBR 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 LBR gene, integrated from 9 sources (see all 589):
(articles sorted by number of sources associating them with LBR)

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

Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. (PubMed id 8157663)^{1, 2, 3} Schuler E.... Worman H.J. (1994)
Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane. (PubMed id 8157662)^{1, 2, 9} Ye Q. and Worman H.J. (1994)
Lamin B-receptor mutations in Pelger-Huet anomaly. (PubMed id 14617022)^{1, 2, 9} Best S....Rees D.C. (2003)
The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)^{1, 3, 9} Holmer L.... Worman H.J. (1998)
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)^{1, 2, 9} Waterham H.R.... Oosterwijk J.C. (2003)
Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker. (PubMed id 10828963)^{1, 2, 9} Duband-Goulet I. and Courvalin J.-C. (2000)
Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. (PubMed id 9169472)^{1, 2, 9} Ye Q.... Worman H.J. (1997)
Temporal control of nuclear envelope assembly by phos phorylation of lamin B receptor. (PubMed id 21795390)^{1, 2} Tseng L.C. and Chen R.H. (2011)
The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. (PubMed id 15882967)^{1, 2} Lechner M.S.... Rauscher F.J. III (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(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: 3930	HGNC: 6518	AceView: LBR	Ensembl:ENSG00000143815	euGenes: HUgn3930
ECgene: LBR	H-InvDB: LBR

(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 LBR	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LBR

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

About This Section

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

GeneCards and IP:
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LBR Gene

lamin B receptor

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