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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LMX1B Gene

protein-coding GIFtS: 60
GCID: GC09P129376

LIM homeobox transcription factor 1, beta

(Previous symbol: NPS1)

Explore 28 diseases affiliated with
LMX1B 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
LIM Homeobox Transcription Factor 1, Beta¹ ²		LIM/Homeobox Protein LMX1B² ³
NPS1¹ ² ⁵		LMX1.2²
LMX-1.2² ³		LIM Homeobox Transcription Factor 1-Beta²
LIM/Homeobox Protein 1.2² ³

External Ids:	HGNC: 6654¹	Entrez Gene: 4010²	Ensembl: ENSG00000136944⁷	OMIM: 602575⁵	UniProtKB: O60663³

Export aliases for LMX1B gene to outside databases

Previous GC identifers: GC09P120491 GC09P121023 GC09P122830 GC09P124752 GC09P126456 GC09P128416 GC09P098989

(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 LMX1B:

This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1

homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the

normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and

dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively

spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663

Function: Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels

Gene Wiki entry for LMX1B

(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_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LMX1B gene promoter:
HEN1 STAT1 STAT2 STAT4 STAT1beta STAT3 STAT5A NF-kappaB NF-kappaB1 STAT1alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LMX1B promoter sequence

Search SABiosciences Chromatin IP Primers for LMX1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMX1B

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

Entrez Gene cytogenetic band: 9q33.3 Ensembl cytogenetic band: 9q33.3 HGNC cytogenetic band: 9q33.3

LMX1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMX1B gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P129376: view genomic region (about GC identifiers)

Start:	129,376,722 bp from pter	End:	129,463,311 bp from pter
Size:	86,590 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: LMX1B_HUMAN, O60663 (See protein sequence)

Recommended Name: LIM homeobox transcription factor 1-beta

Size: 379 amino acids; 42409 Da

Subcellular location: Nucleus (Potential)

Sequence caution: Sequence=CAH70294.1; Type=Erroneous initiation; Sequence=CAI40917.1; Type=Erroneous initiation;

Secondary accessions: O75463 Q5JU95 Q6ISC9

Alternative splicing: 2 isoforms: O60663-1 O60663-2

Explore the universe of human proteins at neXtProt for LMX1B: NX_O60663

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60663

LMX1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001167617.1 NP_001167618.1 NP_002307.2

ENSEMBL proteins:

ENSP00000436930 ENSP00000362573 ENSP00000453580 ENSP00000347684 ENSP00000390923

Human Recombinant Protein Products for LMX1B:

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	Browse Proteins at Uscn

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10767331

LMX1B for ontologies About GeneDecksing

LMX1B Antibody Products:

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

LMX1B for domains About GeneDecksing

4 InterPro domains/families:

IPR001781 Znf_LIM

IPR017970 Homeobox_CS

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O60663

ProtoNet protein and cluster: O60663

1 Blocks protein family: IPB001781 Zn-binding protein

UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 2 LIM zinc-binding domains

(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: LMX1B_HUMAN, O60663

Function: Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels

Genatlas biochemistry entry for LMX1B:

transcriptional regulator of the LIM-homeo domain,LMX1A related gene,highly expressed in renal development and skeletal

patterning,found in adult testis,thyroid,duodenum,skeletal muscle,pancreatic islets,involved in dorsal-ventral limb

patterning and kidney development

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	10767331
GO:0005515	protein binding	IPI	12792813
GO:0008270	zinc ion binding	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

LMX1B for ontologies About GeneDecksing

Phenotypes:
15/17 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Lmx1b) (see all 17):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
homeostasis/metabolism	integument	limbs/digits/tail	mortality/aging	muscle
nervous system	no phenotypic analysis	normal	renal/urinary system	skeleton

LMX1B for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Lmx1b^tm1Rjo for LMX1B

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LMX1B

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		hsa-miR-100* hsa-miR-330-5p hsa-miR-1197 hsa-miR-128 hsa-let-7a-2* hsa-miR-624 hsa-miR-3921 hsa-miR-570

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMX1B

(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

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

1 BioSystems Pathway for LMX1B

SIDS Susceptibility Pathways

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LMX1B

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/7 Interacting proteins for LMX1B (O60663³ ENSP00000347684⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LDB1	Q86U70³, ENSP00000392466⁴	I2D: score=3 STRING: ENSP00000392466
TCF3	P15923³, ENSP00000262965⁴	I2D: score=1 STRING: ENSP00000262965
SSBP3	Q9BWW4³, ENSP00000360371⁴	I2D: score=2 STRING: ENSP00000360371
ALX4	Q9H161³	I2D: score=1
LDB2	O43679³	I2D: score=1

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	NAS	12792813
GO:0001764	neuron migration	--	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IDA	10767331
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--

LMX1B 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

LMX1B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LMX1B
4 Novoseek chemical compound relationships for LMX1B gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dopamine	42.9	7	15536184 (1), 20106970 (1), 12846974 (1), 16477036 (1) (see all 6)
tyrosine	9.17	1	17460897 (1)
steroid	0	1	12846972 (1)
zinc	0	1	17466922 (1)

Search CenterWatch for drugs/clinical trials and news about LMX1B

(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,
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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 LMX1B gene (3 alternative transcripts):

NM_001174146.1 NM_001174147.1 NM_002316.3

Unigene Cluster for LMX1B:

LIM homeobox transcription factor 1, beta

Hs.129133 [show with all ESTs]

Unigene Representative Sequence: NM_001174146

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

ENST00000526117 ENST00000373474 ENST00000561065 ENST00000355497(uc011maa.2)

ENST00000425646(uc004bqi.3 uc004bqj.3)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMX1B
		8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate LMX1B (see all 53):
		hsa-miR-100* hsa-miR-330-5p hsa-miR-1197 hsa-miR-128 hsa-let-7a-2* hsa-miR-624 hsa-miR-3921 hsa-miR-570

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 3): LMX1B (NM_002316)
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Additional cDNA sequence:

AF057135.1 BC069588.1 BC069601.1 BC112120.1 BC113491.1 BC143801.1 U77457.1

2 DOTS entries:

DT.405856 DT.40127692

8 AceView cDNA sequences:

NM_002316 T12579 U77457 T12628 AF057135 BC069588 BC069601 BQ441010

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for LMX1B About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10
SP1:					-		-												-
SP2:					-		-
SP3:

ECgene alternative splicing isoforms for LMX1B

(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

LMX1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGCCCAGC

About this image

LMX1B expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/19 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 19)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Podocyte Layer

Presumptive Podocytes

Selective marker (cell-identifying gene)

Kidney

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Mesoderm

Brain

Substantia Nigra pars Compacta

Adult Dopaminergic Neurons

Dopaminergic neurons

Brain

Substantia Nigra pars Compacta

Dopaminergic Progenitor Cells

Dopaminergic neurons

Brain

Substantia Nigra pars Compacta

Embryonic Dopaminergic Neurons

Dopaminergic neurons

Brain

Ventral Tegmental Area

Adult Dopaminergic Neurons

Dopaminergic neurons

Brain

Ventral Tegmental Area

Dopaminergic Progenitor Cells

Dopaminergic neurons

Brain

Ventral Tegmental Area

Embryonic Dopaminergic Neurons

Dopaminergic neurons

Kidney

S-shaped Body Proximal Segment

S-shaped Body Proximal Cells

Kidney

Limb

Autopod

Prechondrocytic Mesenchymal Cells

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Otx2+Corin+ cells (Derivation of functi...)

Midbrain dopaminergic-like neurons (Derivation of functi...)

GABA neuron-like cells (Generation of motor ...)

Brain

Motor neuron-like cells (Generation of motor ...)

Motor Neurons, Spinal Cord

Posterior foregut-like cells (A scalable, suspensi...)

See LMX1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LMX1B

SOURCE GeneReport for Unigene cluster: Hs.129133

UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663

Tissue specificity: Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and

pancreatic islets

SABiosciences Expression via Pathway-Focused PCR Arrays including LMX1B:

Stem Cell Transcription Factors in human mouse rat

Homeobox (HOX) Genes in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMX1B

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMX1B

(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 LMX1B gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LMX1B¹	LIM homeobox transcription factor 1, beta	80.11(n) 93.37(a)		396312 NM_205358.1 NP_990689.1
lizard (Anolis carolinensis)	Reptilia	LMX1B⁶	--	93(a)	1 ↔ 1	AAWZ02036999(2289-6013)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.18490²	Transcribed sequence with moderate similarity to protein more	77.46(n)		BX762381.1
zebrafish (Danio rerio)	Actinopterygii	lmx1bb¹	LIM homeobox transcription factor 1, beta b	79.64(n) 87.47(a)		554360 NM_001025167.2 NP_001020338.2
fruit fly (Drosophila melanogaster)	Insecta	CG4328³ CG32105¹	transcription factor³ CG32105¹	41(a)³ 52.75(n)¹ 44.44(a)¹		69A5³ 39406¹ NM_168497.1¹ NP_729801.1¹
worm (Caenorhabditis elegans)	Secernentea	lim-6^{1 , 3}	Homeobox protein³ Protein LIM-6¹	43(a)³ 51.72(n)¹ 49.75(a)¹		X(1110242-1113945)³ 180459¹ NM_075803.2¹ NP_508204.2¹

ENSEMBL Gene Tree for LMX1B (if available)
TreeFam Gene Tree for LMX1B (if available)

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

Paralogs for LMX1B gene

LMO2² ISL1² LHX2² LHX9² LMO1² LHX5² LMO4² LHX6²

LHX1² LMX1A² LMO3² LHX4² LHX3² LHX8² ISL2²

18 SIMAP similar genes for LMX1B using alignment to 5 protein entries: LMX1B_HUMAN (see all proteins):

LMX1A LMO1 LHx4 LHX2 LMO3 PITX2

LHX4 LIMK2 LHX1 LHX8 LMO2 LHX5

CDX1 ISL2 LMO4 LIMS2 LHX6 LHX3

LMX1B 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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121909489^1,2	C	pathogenic	129377766(+)	`GTTTGC/TAGTGC`	6	Q *	stg¹		0	--	--	--	--
rs121909488^1,2	C	pathogenic	129453141(+)	`CGGCTG/TCATGG`	6	C F	mis¹		0	--	--	--	--
rs121909491^1,2	C	pathogenic	129455529(+)	`ACCCCA/GGACCA`	6	Q R	mis¹		0	--	--	--	--
rs121909490^1,2	C	pathogenic	129455552(+)	`AGCAGC/TGAAGA`	6	R *	stg¹		0	--	--	--	--
rs121909492^1,2	C	pathogenic	129455806(+)	`AGGTCC/TGAGAG`	6	R *	stg¹		0	--	--	--	--
rs12377624^1,2		--	98989869(+)	`CTGCGG/CGCAGG`	3	--	spa¹		4		NA EA	244
rs145708360^1,2	C	--	98989999(+)	`CCTGCA/GCGTCT`	3	--	int¹		0	--	--	--	--
rs80287356^1,2	F	--	98990263(+)	`CAGCGC/TCCCTA`	3	--	int¹		1		EA	120
rs73588879^1,2	C	--	98990355(+)	`GGCGCC/TGAGAA`	3	--	int¹		1		WA	2
rs62578126^1,2	C	--	98992086(+)	`GAGGCC/TCGGGT`	3	--	int¹		4		NA WA EA	360

HapMap Linkage Disequilibrium report for LMX1B (129376722 - 129463311 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for LMX1B
3 CNVs: 83185 4654 52721
Human Gene Mutation Database (HGMD): LMX1B

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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

LMX1B for disorders           About GeneDecksing

OMIM gene information: 602575
OMIM disorders: 161200
UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663

Defects in LMX1B are the cause of nail-patella syndrome (NPS) [MIM:161200]; also known as

onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia

20/28 diseases for LMX1B (see all 28): About MalaCards

nail-patella syndrome open-angle glaucoma meier-gorlin syndrome steroid-resistant nephrotic syndrome

xy sex reversal sex reversal primary open angle glaucoma attention deficit hyperactivity disorder

cleft lip/palate familial mediterranean fever cleft lip genitopatellar syndrome

major depressive disorder nephrotic syndrome nail dysplasia glaucoma

short stature heart block neuronitis parkinson's disease

3 diseases from the University of Copenhagen DISEASES database for LMX1B:

nail-patella syndrome Glaucoma Parkinson's disease

10/11 Novoseek disease relationships for LMX1B gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nail-patella syndrome	98.3	38	10425280 (4), 19721866 (3), 15785774 (2), 10767331 (2) (see all 28)
genitopatellar syndrome	88.3	4	16761293 (3), 17431898 (1)
renal disease	58.5	6	18414507 (1), 12792813 (1), 17570941 (1), 11175791 (1) (see all 6)
glaucoma	53.5	9	18952915 (2), 16825280 (1), 18414507 (1), 10660670 (1) (see all 7)
renal dysplasia	50.5	2	9590287 (2)
dysplasia	49.5	1	12792813 (1)
parkinson disease	48.1	3	11724911 (1), 19189040 (1)
glaucoma open-angle	44.9	2	10425280 (1), 18952915 (1)
nephrotic syndrome	42.2	1	16050398 (1)
genetic disorder	29.6	2	18634531 (1)

GeneTests: LMX1B

Nail-Patella Syndrome

Human Genome Epidemiology (HuGE) Navigator: LMX1B (8 documents)

Export disorders for LMX1B 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 LMX1B gene, integrated from 9 sources (see all 105):
(articles sorted by number of sources associating them with LMX1B)

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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. (PubMed id 9590287)^{1, 2, 3, 9} Dreyer S.D.... Lee B. (1998)
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. (PubMed id 9618165)^{1, 2, 9} Vollrath D.... Richards J.E. (1998)
Mutation analysis of LMX1B gene in nail-patella syndrome patients. (PubMed id 9837817)^{1, 2, 9} McIntosh I.... Lee B. (1998)
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. (PubMed id 10571942)^{1, 2, 9} Clough M.V.... McIntosh I. (1999)
Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue- specific expression and linkage mapping on chromosome 9. (PubMed id 9441763)^{1, 3, 9} Iannotti C.A.... Permutt M.A. (1997)
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. (PubMed id 11668639)^{1, 2, 9} Hamlington J.D.... McIntosh I. (2001)
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. (PubMed id 9590288)^{1, 9} Chen H....Johnson R.L. (1998)
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. (PubMed id 18414507)^{1, 9} Bongers E.M....Knoers N.V. (2008)
LMX1B transactivation and expression in nail-patella syndrome. (PubMed id 10767331)^{1, 9} Dreyer S.D....Lee B. (2000)
Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease? (PubMed id 19189040)^{1, 9} Bergman O....Nissbrandt H. (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: 4010	HGNC: 6654	AceView: LMX1B	Ensembl:ENSG00000136944	euGenes: HUgn4010
ECgene: LMX1B	H-InvDB: LMX1B

(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 LMX1B	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LMX1B

Intellectual Property for LMX1B gene
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Patent Information for LMX1B gene:
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LIM homeobox transcription factor 1, beta

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LIM homeobox transcription factor 1, beta

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