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LMX1B Gene

protein-coding   GIFtS: 60
GCID: GC09P129376

LIM Homeobox Transcription Factor 1, Beta


(Previous symbol: NPS1)
  See LMX1B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LMX1B Gene:
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)

GeneCards Summary for LMX1B Gene:
LMX1B (LIM homeobox transcription factor 1, beta) is a protein-coding gene. Diseases associated with LMX1B include nail-patella syndrome, and genitopatellar syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ISL1.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   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 plasmidLMX1B promoter sequence
   Search Chromatin IP Primers for LMX1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663 (See protein sequence)
Recommended Name: LIM homeobox transcription factor 1-beta  
Size: 402 amino acids; 44917 Da
Sequence caution: Sequence=AAC27294.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAC39738.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH69601.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI12121.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAI13492.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=CAH70295.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAI40918.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=EAW87642.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: F8W7W6 O75463 Q5JU95 Q6ISC9
Alternative splicing: 3 isoforms:  O60663-1   O60663-2   O60663-3   

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

Explore proteomics data for LMX1B at MOPED


See LMX1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001167617.1  NP_001167618.1  NP_002307.2  

ENSEMBL proteins: 
 ENSP00000436930   ENSP00000362573   ENSP00000453580   ENSP00000347684   ENSP00000390923  

LMX1B Human Recombinant Protein Products:

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antibodies-online proteins for LMX1B (7 products) 

 
antibodies-online peptides for LMX1B

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antibodies-online antibodies for LMX1B (51 products) 

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
LIM: Homeoboxes / LIM class

4 InterPro protein domains:
 IPR001781 Znf_LIM
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O60663

ProtoNet protein and cluster: O60663

1 Blocks protein domain: IPB001781 Zn-binding protein

UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663
Similarity: Contains 1 homeobox DNA-binding domain
Similarity: Contains 2 LIM zinc-binding domains


Find genes that share domains with LMX1B           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IDA10767331
GO:0005515protein binding IPI12792813
GO:0008270zinc ion binding IEA--
GO:0043565sequence-specific DNA binding IEA--
     
Find genes that share ontologies with LMX1B           About GenesLikeMe


Phenotypes:
     Selected 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 

Find genes that share phenotypes with LMX1B           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Lmx1btm1Rjo for LMX1B

   genOway: Develop your customized and physiologically relevant rodent model for LMX1B

miRNA
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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
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat LMX1B

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
LMX1B_HUMAN, O60663: Nucleus (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2
extracellular1
lysosome1
vacuole1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA10767331

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for LMX1B About    
See pathways by source

SuperPathContained pathways About
1SIDS Susceptibility Pathways
SIDS Susceptibility Pathways


1 BioSystems Pathway for LMX1B
    SIDS Susceptibility Pathways


    Pathway & Disease-focused RT2 Profiler PCR Arrays including LMX1B: 
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Interactions:

    GeneGlobe Interaction Network for LMX1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for LMX1B (O606633 ENSP000003476844) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
InteractantInteraction Details
GeneCardExternal ID(s)
LDB1Q86U703, ENSP000003924664I2D: score=3 STRING: ENSP00000392466
ALX4Q9H1613, ENSP000003327444I2D: score=1 STRING: ENSP00000332744
LDB2O436793, ENSP000003067724I2D: score=1 STRING: ENSP00000306772
TCF3P159233, ENSP000002629654I2D: score=1 STRING: ENSP00000262965
SSBP3Q9BWW43, ENSP000003603714I2D: score=2 STRING: ENSP00000360371
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Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001701in utero embryonic development NAS12792813
GO:0001764neuron migration IEA--
GO:0002930trabecular meshwork development IEA--
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated IDA10767331

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for LMX1B

4 Novoseek inferred 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)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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)
miRNA
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Selected qRT-PCR 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
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Predesigned siRNA for gene silencing in human, mouse, rat LMX1B
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OriGene ORF clones in mouse, rat for LMX1B
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GenScript: all cDNA clones in your preferred vector (see all 3): LMX1B (NM_002316)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMX1B
Primer
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  QuantiTect SYBR Green Assays in human, mouse, rat LMX1B
  QuantiFast Probe-based Assays in human, mouse, rat LMX1B

Additional mRNA 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 T12628 AF057135 T12579 U77457 BC069601 BC069588 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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LMX1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGAGCCCAGC
LMX1B Expression
About this image


LMX1B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 16) fully expand
 
 Brain (Nervous System)    fully expand to see all 20 entries
         Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
         Thalamus
         Neural progenitor cells
 
 Neurons
         Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
         Midbrain dopaminergic-like neurons
 
 Neural Tube (Nervous System)    fully expand to see all 8 entries
         Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
         Diencephalon
         Otx2+Corin+ cells
 
 Dopaminergic Neurons (Nervous System)    fully expand to see all 4 entries
         Midbrain dopaminergic-like neurons
 
 Limb (Muscoskeletal System)    fully expand to see all 3 entries
         Limb Bud Mesenchyme Cells Limb Bud
         Autopod
LMX1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

LMX1B Protein Expression

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

    Pathway & Disease-focused RT2 Profiler PCR Arrays including LMX1B: 
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Primer
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for LMX1B gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Lmx1b1 , 5 LIM homeobox transcription factor 1 beta1, 5 93.37(n)1
100(a)1
  2 (22.48 cM)5
169171  NM_010725.21  NP_034855.21 
 335609655 
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
LIM homeobox transcription factor 1, beta
89(a)
1 ↔ 1
AAWZ02036999(2230-6067)
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 transcription factor 41(a)   69A5   --
worm
(Caenorhabditis elegans)
Secernentea lim-61 , 3 Homeobox protein3
lim-61
43(a)3
49.11(n)1
45.98(a)1
  X(1110242-1113945)3
1804591  NM_001270051.11  NP_001256980.11 


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)
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Paralogs for LMX1B gene
ISL12  LHX22  LHX92  LHX52  LHX62  LHX12  LMX1A2  LHX42  
LHX32  LHX82  ISL22  
14 SIMAP similar genes for LMX1B using alignment to 3 protein entries:     LMX1B_HUMAN (see all proteins):
LMX1A    LMO1    LHx4    LMO3    LHX4    LHX1
LHX8    LMO2    LHX5    CDX1    LMO4    LIMS2
ISL2    LHX3

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for LMX1B (see all 1828)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0151974
Nail-patella syndrome (NPS)4--see VAR_0151972 C Y mis40--------
VAR_0042044
Nail-patella syndrome (NPS)4--see VAR_0042042 A V mis40--------
VAR_0152124
Nail-patella syndrome (NPS)4--see VAR_0152122 C Y mis40--------
VAR_0152074
Nail-patella syndrome (NPS)4--see VAR_0152072 C Y mis40--------
VAR_0042034
Nail-patella syndrome (NPS)4--see VAR_0042032 R P mis40--------
VAR_0152044
Nail-patella syndrome (NPS)4--see VAR_0152042 H Y mis40--------
VAR_0152014
Nail-patella syndrome (NPS)4--see VAR_0152012 C R mis40--------
VAR_0151924
Nail-patella syndrome (NPS)4--see VAR_0151922 C F mis40--------
VAR_0151984
Nail-patella syndrome (NPS)4--see VAR_0151982 W C mis40--------
VAR_0042054
Nail-patella syndrome (NPS)4--see VAR_0042052 N K mis40--------

HapMap Linkage Disequilibrium report for LMX1B (129376722 - 129463311 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for LMX1B (see all 14):    About this table    
Variant IDTypeSubtypePubMed ID
esv2739046CNV Deletion23290073
esv2659178CNV Deletion23128226
dgv8284n71CNV Loss21882294
nsv517494CNV Loss19592680
nsv466568CNV Loss19166990
dgv8285n71CNV Loss21882294
nsv6718CNV Loss18451855
dgv8283n71CNV Loss21882294
nsv528719CNV Loss19592680
nsv825080CNV Gain20364138

Human Gene Mutation Database (HGMD): LMX1B
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing LMX1B
DNA2.0 Custom Variant and Variant Library Synthesis for LMX1B

(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.)
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OMIM gene information: 602575   
OMIM disorders: 161200  
UniProtKB/Swiss-Prot: LMX1B_HUMAN, O60663
  • Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause abnormal skeletal patterning and renal
    dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for LMX1B:    
    About MalaCards
    nail-patella syndrome    genitopatellar syndrome    meier-gorlin syndrome

    3 diseases from the University of Copenhagen DISEASES database for LMX1B:
    nail-patella syndrome     Glaucoma     Parkinson's disease

    Find genes that share disorders with LMX1B           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: LMX1B
    Genetic Association Database (GAD): LMX1B
    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)
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    PubMed articles for LMX1B gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with LMX1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Nat. Genet. 1998)
    2. 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. (Hum. Mol. Genet. 1998)
    3. Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease? (PubMed id 19189040)1, 4, 9 Bergman O....Nissbrandt H. (J Neural Transm 2009)
    4. Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. (PubMed id 18952915)1, 4, 9 Park S....Sowden J.C. (amp 2009)
    5. Mutation analysis of LMX1B gene in nail-patella syndrome patients. (PubMed id 9837817)1, 2, 9 McIntosh I.... Lee B. (Am. J. Hum. Genet. 1998)
    6. 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. (Hum. Mutat. 1999)
    7. 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. (Genomics 1997)
    8. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. (PubMed id 11668639)1, 2, 9 Hamlington J.D.... McIntosh I. (Hum. Mutat. 2001)
    9. The transcription factor PITX3 is associated with sporadic Parkinson's disease. (PubMed id 17905480)1, 4, 9 Fuchs J....Gasser T. (Neurobiol. Aging 2009)
    10. Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits. (PubMed id 17728669)1, 4, 9 Prichard Z.M....Easteal S. (Psychiatr. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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      (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)
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    Entrez Gene: 4010 HGNC: 6654 AceView: LMX1B Ensembl:ENSG00000136944 euGenes: HUgn4010
    ECgene: LMX1B H-InvDB: LMX1B

    (According to HUGE)
    About This Section

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      --

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

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    NameDescription
    PharmGKB entry for LMX1B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LMX1B[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LMX1B gene:
    Search GeneIP for patents involving LMX1B

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



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