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LBH Gene

protein-coding GIFtS: 44

GC02P030366

limb bud and heart development homolog (mouse)
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
DKFZp566J091 ^²
MGC104312 ^²
MGC163287 ^²
hLBH ^³

Descriptions
limb bud and heart development homolog ^²
limb bud and heart development homolog (mouse) ^²

External Ids
HGNC: 29532¹
Entrez Gene: 81606²
UniProtKB: Q53QV2³
Ensembl: ENSG00000213626⁷

Search outside databases for aliases for LBH gene

Previous GC identifers: GC02P030371 GC02P030561 GC02P030428

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

UniProtKB/Swiss-Prot: LBH_HUMAN, Q53QV2

Function: Transcriptional activator which may act in mitogen-activated protein kinase signaling

pathway

Gene Wiki entry for LBH

(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 LBH gene

Entrez Gene cytogenetic band: 2p23.1 Ensembl cytogenetic band: 2p23.1 HGNC cytogenetic band: 2p23.1

LBH 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 2 GeneLoc Exon Structure

GeneLoc location for GC02P030366: (about GC identifiers)

Start:	30,307,899 bp from pter
End:	30,400,100 bp from pter
Size:	92,202 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000002.10 NT_022184.14

(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: LBH_HUMAN, Q53QV2 (See protein sequence)

Recommended Name: Protein LBH

Size: 105 amino acids; 12217 Da

Subcellular location: Nucleus. Cytoplasm

Developmental stage: Expressed in heart of 25 and 17 weeks embryos

Secondary accessions: B2RBC2 Q9H0Q1

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_112177.2

ENSEMBL proteins:

ENSP00000378733 ENSP00000384443 ENSP00000385703 ENSP00000386106 ENSP00000385409

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
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

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

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

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Antibodies for LBH:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for LBH

Assays for LBH:

	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 Q53QV2

ProtoNet protein and cluster: Q53QV2

UniProtKB/Swiss-Prot: LBH_HUMAN, Q53QV2

Similarity: Belongs to the LBH 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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LBH)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_030915

Applied Biosystems Silencer® siRNAs for LBH

Sigma-Aldrich siRNA for LBH

Sigma-Aldrich shRNA for LBH

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_030915
Myc/DDK tagged cDNA clone in CMV expression vector: NM_030915
untagged cDNA clone in CMV expression vector: NM_030915

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_030915

UniProtKB/Swiss-Prot: LBH_HUMAN, Q53QV2

Function: Transcriptional activator which may act in mitogen-activated protein kinase signaling

pathway

(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.)
About This Section

3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006350	transcription	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0007275	multicellular organismal development	IEA	--

About this table

(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 LBH

(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 (LBH)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_030915

Sigma-Aldrich siRNA for LBH

Sigma-Aldrich shRNA for LBH

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_030915

REFSEQ mRNAs for LBH gene:

NM_030915.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_030915

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030915
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030915
                                 untagged cDNA clone in CMV expression vector: NM_030915

Additional cDNA sequence:

AF110224.1 AF258555.1 AK023425.1 AK027232.1 AK092206.1 AK223541.1 AK314598.1 AL136703.1

BC012373.1 BC109376.1 BC126434.1 BC130415.1 EF025586.1

13 DOTS entries:

DT.448923 DT.100653294 DT.100028036 DT.120939535 DT.120939551 DT.120939559 DT.120939524 DT.120939548

DT.120939563 DT.91833014 DT.92435358 DT.120939552 DT.92435359

24/320 AceView cDNA sequences (see all 320 ):

AW516152 BQ006302 AW627681 AU280782 BP366772 CB133509 BF975260 CB134021

BQ716379 AI129620 BM873632 BQ421430 AI021890 CB136766 BU177184 AI919036

CB133280 AA553569 BQ882298 AL560148 BM468859 BM722236 BM543364 CN485291

highest scoring ESTs for LBH:

AI761694 AA040473 AA045487 AA057344 AA094034 AA094393 AA116132 AA116133 AA248097 AA282579

Unigene Cluster for LBH:

Limb bud and heart development homolog (mouse)

Hs.567598 [show with all ESTs]

Unigene Representative Sequence: BC109376

GeneLoc Exon Structure

5 Ensembl transcripts including schematic representations:

ENST00000395323 ENST00000404397 ENST00000401506 ENST00000407930 ENST00000406087

(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

LBH expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for LBH

¹ / ² / ³

4 probe-sets matching LBH 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
57197_at²^{, 3}	U95-B	2	1.00	0.50	0.95	1.29	AA906378	0.60	1.00	0.82	1
89409_at²^{, 3}	U95-E	4	1.00	0.48	0.84	0.71	AI761694	1.00	1.00	1.00	1
221011_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	NM_030915	0.60	1.00	0.82	1
221011_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

GeneDecks LBH 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: --

SOURCE GeneReport for Unigene cluster: Hs.567598
UniProtKB/Swiss-Prot: LBH_HUMAN, Q53QV2
Tissue specificity: Highly expressed in heart, and expressed at low levels in placenta, lung,
skeletal muscle, kidney and liver

(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)
About This Section

Orthologs for LBH gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LBH¹	--	limb bud and heart development homolog (mouse)	87.94(n) 92.38(a)	611237 XM_848875.1 XP_853968.1
chimpanzee (Pan troglodytes)	LBH¹	--	limb bud and heart development homolog (mouse)	99.68(n) 99.05(a)	742836 XM_001163096.1 XP_001163096.1
cow (Bos taurus)	LBH¹	--	limb bud and heart development homolog (mouse)	89.58(n) 93.75(a)	616148 XM_868111.2 XP_873204.2
mouse (Mus musculus)	Lbh^{1, 5}	17⁵	limb-bud and heart^{1, 5}	89.21(n)¹ 90.48(a)¹	77889¹ NM_029999.3¹ NP_084275.3¹ AF317517⁵ AK007400⁵ (see all 10)
chicken (Gallus gallus)	RCJMB04_3c23¹	--	limb bud and heart development homolog (mouse)	78.73(n) 78.1(a)	421301 NM_001031038.1 NP_001026209.1

About this table Species with no ortholog for LBH

ENSEMBL Gene Tree for LBH

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

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

10/173 NCBI SNPs in LBH are shown (see all 173 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 104)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs9558^1,2	C,F,H,O	30335421(+)	`AGTCCG/ACCGAG`	1	--	ut3¹		8		MN NA EU EA WA	746
	rs2362540^1,2	A,C,F,H	30306463(+)	`GGCAGA/CCAGGG`	1	--	ng5¹		4		EU EA WA	420
	rs2279998^1,2	A,C,F,H	30334264(-)	`TCGCTC/GCCCTC`	1	--	ut3¹		5		EA NA	314
	rs12468820^1,2	C,F,H	30336901(+)	`CCAGGT/CACTAG`	1	--	ng3¹		8		EU EA WA	840
	rs13386455^1,2	C,F,H	30334369(+)	`TGCAAA/GGCAAG`	1	--	ut3¹		7		EU EA WA NA	548
	rs906864^1,2	C,F,H	30335603(-)	`TGCCCC/TGGCAT`	1	--	ut3¹		13		EA NA MN EU WA	1170
	rs10206415^1,2	F,H	30334950(+)	`ACCGCC/TACCTT`	1	--	ut3¹		4		EU EA WA	414
	rs10171296^1,2	F,H	30334813(+)	`AGAGCA/GCTTCC`	1	--	ut3¹		4		EU EA WA	418
	rs10171305^1,2	F,H	30334847(+)	`TGGACA/TCTCAG`	1	--	ut3¹		4		EU EA WA	418
	rs1472957^1,2	C	30306743(+)	`TCAAGC/TACATA`	1	--	ng5¹		0	--	--	--	--

About this table

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

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

OMIM: 611763

Human Genome Epidemiology Navigator: LBH (1 document)

(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)
About This Section

10/19 PubMed articles for LBH gene (see all 19 ):

Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{2, 3, 4} Wiemann S.... Poustka A. (2001)
A human homolog of mouse Lbh gene, hLBH, expresses in heart and activates SRE and AP-1 mediated MAPK signaling pathway. (PubMed id 17390236)^{1, 3, 4} Ai J.... Wu X. (2008)
Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. (PubMed id 16094384)^{3, 4} Tao W.A.... Aebersold R. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Identification and characterization of Lbh, a novel conserved nuclear protein expressed during early limb and heart development. (PubMed id 11336496)^{2, 3} Briegel K.J. and Joyner A.L. (2001)
Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)³ Trynka G....Wijmenga C. (2009)
Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)³ Gudbjartsson D.F....Stefansson K. (2008)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)⁴ Olsen J.V....Mann M. (2006)
The LIFEdb database in 2006. (PubMed id 16381901)³ Mehrle A....Wiemann S. (2006)
Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh. (PubMed id 15958514)³ Briegel K.J....Joyner A.L. (2005)

(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: 81606	HGNC: 29532	AceView: LBH	Ensembl:ENSG00000213626	euGenes: HUgn81606
ECgene: LBH	H-InvDB: LBH

(According to HUGE)
About This Section

(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

Licensable Technologies for LBH
(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 LBH:

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 LBH-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 LBH		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for LBH		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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LBH Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for LBH

Summaries
for LBH

Genomic Location
for LBH

Proteins
for LBH

Protein Domains/
Families
for LBH

Gene Function
for LBH

Pathways & Interactions
for LBH

Drugs & Compounds
for LBH

Transcripts
for LBH

Expression
for LBH

Orthologs
for LBH

Paralogs
for LBH

SNPs/Variants
for LBH

Disorders & Mutations
for LBH

Medical News
for LBH

Publications
for LBH

Search for LBH

Genome Databases showing LBH

Other Databases showing LBH

Specialized Databases showing LBH

Licensable Technologies
for LBH

Services
for LBH

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

LBH Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor LBH

Summariesfor LBH

Genomic Locationfor LBH

Proteinsfor LBH

Protein Domains/Familiesfor LBH

Gene Functionfor LBH

Pathways & Interactionsfor LBH

Drugs & Compoundsfor LBH

Transcriptsfor LBH

Expression for LBH

Orthologsfor LBH

Paralogsfor LBH

SNPs/Variantsfor LBH

Disorders & Mutationsfor LBH

Medical Newsfor LBH

Publicationsfor LBH

Search for LBH

Genome Databases showing LBH

Other Databases showing LBH

Specialized Databases showing LBH

Licensable Technologiesfor LBH

Servicesfor LBH

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 LBH

Summaries
for LBH

Genomic Location
for LBH

Proteins
for LBH

Protein Domains/
Families
for LBH

Gene Function
for LBH

Pathways & Interactions
for LBH

Drugs & Compounds
for LBH

Transcripts
for LBH

Expression
for LBH

Orthologs
for LBH

Paralogs
for LBH

SNPs/Variants
for LBH

Disorders & Mutations
for LBH

Medical News
for LBH

Publications
for LBH

Licensable Technologies
for LBH

Services
for LBH