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LBR Gene

protein-coding GIFtS: 62

GC01M223657

lamin B receptor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
DHCR14B ^¹, ²
FLJ43126 ^²
LMN2R ^², ³
MGC9041 ^²
OTTHUMP00000035631 ^²
PHA ^², ⁵

Descriptions
Integral nuclear envelope inner membrane protein ^², ³
lamin B receptor ^²

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

Search outside databases for aliases for LBR gene

Previous GC identifers: GC01M224071 GC01M221406 GC01M221996 GC01M222563 GC01M221895

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the LBR gene

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)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M223657: (about GC identifiers)

Start:	223,655,827 bp from pter
End:	223,683,142 bp from pter
Size:	27,316 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_004559.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

PDB structures from and Proteopedia :

2DIG (3D)

Secondary accessions: Q14740 Q53GU7 Q59FE6

Post-translational modifications:

Phosphorylated by CDC2 protein kinase 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 cycle¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_002287.2 NP_919424.1

ENSEMBL proteins:

ENSP00000339883 ENSP00000272163

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Lamin B Receptor)
	Human Recombinant Proteins from Abnova (LBR)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005635	nuclear envelope	EXP	12618959
GO:0005637	nuclear inner membrane	IEA	--
GO:0005639	integral to nuclear inner membrane	TAS	8157662
GO:0016020	membrane	IEA	--

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Antibodies for LBR:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for LBR
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Lamin B Receptor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (LBR)
	Novus Biologicals Antibody for LBR

Assays for LBR:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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

Similarity: Belongs to the ERG4/ERG24 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LBR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (LBR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002296

Applied Biosystems Silencer® siRNAs for LBR

Sigma-Aldrich siRNA and siRNA Panels for LBR

Sigma-Aldrich shRNA for LBR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for LBR
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_002296
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_002296
untagged cDNA clones in CMV expression vector (see all 2): NM_002296

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_194442

UniProtKB/Swiss-Prot: 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

15/22 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Lbr) (see all 22 ):

adipose tissue	behavior/neurological	cellular	craniofacial	digestive/alimentary
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	nervous system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	8157662
GO:0004872	receptor activity	IEA	--
GO:0005521	lamin binding	TAS	8157662
GO:0050613	delta14-sterol reductase activity	EXP	12618959

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for LBR

5/20 Interacting proteins for LBR (Q14739^{1, 2} ENSP00000339883³) via UniProtKB, MINT, and/or STRING (see all 20 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CBX5	P45973¹, ENSP00000209875³	EBI-1055147, EBI-78219 STRING (score=.988)
CBX3	Q13185¹, ENSP00000336687³	EBI-1055147, EBI-78176 STRING (score=.832)
YWHAG	P61981¹^,²	EBI-1055147, EBI-359832 MINT-50793 EBI-1055147, EBI-359832 MINT-50793
YWHAG	P61981¹^,²	EBI-1055147, EBI-359832 MINT-50793 EBI-1055147, EBI-359832 MINT-50793
YWHAB	P31946²	MINT-50938

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for LBR
10/51 Novoseek chemical compound relationships for LBR gene (see all 51 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
con a	69.38	32	2054070 (3), 1997001 (3), 16286849 (2), 1657242 (2) (see all 23)
ionomycin	66.75	35	8299228 (3), 8098667 (3), 8586487 (3), 11841833 (2) (see all 21)
thymidine	62.42	40	1974593 (1), 8288318 (1), 10981527 (1), 2111191 (1) (see all 36)
3beta-hydroxysterol	58.49	7	16784888 (3)
phorbol 12,13-dibutyrate	44.05	14	8299228 (2), 8402922 (2), 16568834 (2), 7593202 (1) (see all 6)
calcium	25.74	50	7800684 (2), 7829128 (2), 1827986 (2), 8299228 (2) (see all 33)
sterol	23.53	13	9630650 (3), 9878250 (2), 12618959 (2), 10411271 (1) (see all 5)
a23187	22.92	1	1829396 (1)
ppix	21.53	1	9613240 (1)
neopterin	21.19	2	2127317 (1), 9566389 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LBR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (LBR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002296

Sigma-Aldrich siRNA and siRNA Panels for LBR

Sigma-Aldrich shRNA for LBR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002296 NM_194442

REFSEQ mRNAs for LBR gene (2 alternative transcripts):

NM_002296.2 NM_194442.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002296 NM_194442

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_002296
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_002296
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_002296

Additional cDNA sequence:

AB209514.1 AK222834.1 AK303589.1 AK312258.1 BC020079.1 CR611515.1 CR626457.1 L25931.1

15 DOTS entries:

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

DT.95235214 DT.100641937 DT.100817675 DT.87017008 DT.91764211 DT.95196448 DT.95196451

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

NM_002296 AL601685 BU176075 BF434266 AW014332 AI161010 BF434265 BQ425976

AW148868 BU682707 AU137830 AW590073 AU130258 AA318500 AA057743 CB109614

AA903251 AA744808 CB156205 AA741047 AI961385 BX281056 BU629100 AW473042

highest scoring ESTs for LBR:

BE243907 BG773304 BX479564 L25931 AA057743 AA086058 AA086146 AA086147 AA099136 AA099192

Unigene Cluster for LBR:

Lamin B receptor

Hs.435166 [show with all ESTs]

Unigene Representative Sequence: NM_002296

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for LBR

2 Ensembl transcripts including schematic representations:

ENST00000338179 ENST00000272163

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

LBR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for LBR

¹ / ² / ³

5 probe-sets matching LBR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
83434_at²^{, 3}	U95-D	1	1.00	1.00	0.08	1.06	H71195	0.40	0.67	0.55	1
288_s_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.19	L25931	0.80	1.00	0.91	1
86994_at²^{, 3}	U95-D	1	0.44	1.00	0.88	0.77	W86043	0.60	1.00	0.82	1
201795_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_002296	0.60	1.00	0.82	1
201795_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks LBR for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TTTATTTGGC

SOURCE GeneReport for Unigene cluster: Hs.435166
Expression variation in blood from EXPOLDB for LBR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for LBR gene from 5/15 species (see all 15 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LBR¹	--	lamin B receptor	82.17(n) 82.6(a)	490391 XM_547512.2 XP_547512.2
chimpanzee (Pan troglodytes)	LBR¹	--	lamin B receptor	99.51(n) 99.02(a)	457776 XM_001137563.1 XP_001137563.1
cow (Bos taurus)	LBR¹	--	lamin B receptor	86.83(n) 87.32(a)	509348 XM_865094.2 XP_870187.1
rat (Rattus norvegicus)	Lbr¹	--	lamin B receptor	80.05(n) 80(a)	89789 NM_134453.1 NP_604448.1
mouse (Mus musculus)	Lbr^{1, 5}	1 (97.30 cM)⁵	lamin B receptor^{1, 5}	79.19(n)¹ 80.16(a)¹	98386¹ NM_133815.1¹ NP_598576.1¹ AI505894⁵ AK028426⁵ (see all 26)

About this table Species with no ortholog for LBR

ENSEMBL Gene Tree for LBR

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

Paralogs for LBR gene

DHCR7² TM7SF2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/131 NCBI SNPs in LBR are shown (see all 131 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 89)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs7406^1,2	A,C,F,H,O	223656096(-)	`CTAATG/ATGTGC`	2	--	ut3¹ ese³		13	NS MN EU EA WA NA	852
	rs14205^1,2	C,F,H,O	223656267(-)	`TTTAAT/CTACAC`	2	--	ut3¹ ese³		14	NS MN EU EA WA NA	926
	rs2066233^1,2	C,F,H	223684782(-)	`AGTGGT/CAGGAC`	1	--	ng3¹		7	NA EA EU WA	670
	rs2230419^1,2	C,F,H	223673767(-)	`ATTCAA/GTTTGT`	2	S/N	mis¹		16	MN EA NA EU WA	1348
	rs2275601^1,2	C,F,H	223666932(-)	`TCGGAA/GCATCT`	2	T/A	mis¹ ese³		9	EA EU WA	2330
	rs6692416^1,2	C,F,H	223684621(+)	`AAGATG/ACTTGT`	1	--	ng3¹		7	EU EA WA NA	546
	rs11551874^1,2	C,F,H	223657373(+)	`ATTAAG/CGGTTG`	2	--	ut3¹		11	NA EU EA WA	980
	rs16844881^1,2	F,H	223683698(+)	`CCCAAG/ATCTCA`	2	--	ng3¹		5	NA EA	284
	rs16844841^1,2	F,H	223657298(+)	`AAAGTA/CATCAG`	2	--	ut3¹ ese³		8	NA EU EA WA	636
	rs4463630^1,2	H	223683931(+)	`AAATAG/AAAGAA`	2	--	ng3¹		4	EU EA WA	418

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HapMap Linkage Disequilibrium images for LBR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600024 disorders: 169400 215140

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

10/62 Novoseek disease relationships for LBR gene (see all 62 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pelger-huet anomaly	74.03	5	14617022 (2), 12618959 (1), 15724491 (1)
necrosis	46.79	21	9698426 (1), 11729831 (1), 18288269 (1), 9020407 (1) (see all 21)
tetanus	42.14	14	1643425 (2), 8223849 (1), 11357954 (1), 10744782 (1) (see all 12)
immunodeficiency	36.59	4	8658055 (1), 9588845 (1), 7532407 (1), 9311806 (1)
biliary cirrhosis primary	33.45	4	7515343 (1), 8425102 (1), 8157662 (1), 8550049 (1)
lymphopenia	32.97	1	8761000 (1)
leukemia	20.23	8	8640841 (2), 1693168 (1), 10077340 (1), 7691315 (1) (see all 6)
skeletal dysplasia	20.04	3	16784888 (1), 18382993 (1)
rheumatoid arthritis	19.87	3	1393371 (1), 7821975 (1), 2113447 (1)
dermatitis atopic	19.71	5	1531123 (2), 10981527 (1)

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Human Gene Mutation Database: LBR

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/509 PubMed articles for LBR gene (see all 509 ):

Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. (PubMed id 8157663)^{2, 3, 4} 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, 3, 4} Ye Q. and Worman H.J. (1994)
Lamin B-receptor mutations in Pelger-Huet anomaly. (PubMed id 14617022)^{1, 3, 4} Best S....Rees D.C. (2003)
The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)^{1, 2, 3} 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, 3, 4} 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, 3, 4} 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, 3, 4} Ye Q.... Worman H.J. (1997)
The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. (PubMed id 15882967)^{3, 4} 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)^{3, 4} Gerhard D.S....Malek J. (2004)
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). (PubMed id 12118250)^{3, 4} Hoffmann K.... Sperling K. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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, 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)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=LBR

Licensable Technologies for LBR
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for LBR:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for LBR-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for LBR		Antibodies for LBR
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for LBR		Browse small molecules at Sigma-Aldrich
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	Flow Cytometry Kits		Protease Activity Assays & Reagents
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
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	Recombinant Proteins (LBR)
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	Custom Service for Rabbit Pab from Full-length Protein

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	Recombinant Proteins (Lamin B Receptor)
	Antibodies (Lamin B Receptor)

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Antibodies for LBR

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
LBR Gene at Home site.
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LBR Gene

protein-coding GIFtS: 62

Aliases &
Descriptions
for LBR

Summaries
for LBR

Genomic Location
for LBR

Proteins
for LBR

Protein Domains/
Families
for LBR

Gene Function
for LBR

Pathways & Interactions
for LBR

Drugs & Compounds
for LBR

Transcripts
for LBR

Expression
for LBR

Orthologs
for LBR

Paralogs
for LBR

SNPs/Variants
for LBR

Disorders & Mutations
for LBR

Medical News
for LBR

Publications
for LBR

Search for LBR

Genome Databases showing LBR

Other Databases showing LBR

Specialized Databases showing LBR

Licensable Technologies
for LBR

Services
for LBR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

LBR Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor LBR

Summariesfor LBR

Genomic Locationfor LBR

Proteinsfor LBR

Protein Domains/Familiesfor LBR

Gene Functionfor LBR

Pathways & Interactionsfor LBR

Drugs & Compoundsfor LBR

Transcriptsfor LBR

Expression for LBR

Orthologsfor LBR

Paralogsfor LBR

SNPs/Variantsfor LBR

Disorders & Mutationsfor LBR

Medical Newsfor LBR

Publicationsfor LBR

Search for LBR

Genome Databases showing LBR

Other Databases showing LBR

Specialized Databases showing LBR

Licensable Technologiesfor LBR

Servicesfor LBR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for LBR

Summaries
for LBR

Genomic Location
for LBR

Proteins
for LBR

Protein Domains/
Families
for LBR

Gene Function
for LBR

Pathways & Interactions
for LBR

Drugs & Compounds
for LBR

Transcripts
for LBR

Expression
for LBR

Orthologs
for LBR

Paralogs
for LBR

SNPs/Variants
for LBR

Disorders & Mutations
for LBR

Medical News
for LBR

Publications
for LBR

Licensable Technologies
for LBR

Services
for LBR