Human Gene LMX1B (ENST00000373474.9_9) from GENCODE V47lift37
  Description: LIM homeobox transcription factor 1 beta, transcript variant 2 (from RefSeq NM_001174147.2)
Gencode Transcript: ENST00000373474.9_9
Gencode Gene: ENSG00000136944.19_13
Transcript (Including UTRs)
   Position: hg19 chr9:129,376,207-129,463,311 Size: 87,105 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr9:129,376,729-129,458,730 Size: 82,002 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:129,376,207-129,463,311)mRNA (may differ from genome)Protein (402 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LMX1B_HUMAN
DESCRIPTION: RecName: Full=LIM homeobox transcription factor 1-beta; AltName: Full=LIM/homeobox protein 1.2; Short=LMX-1.2; AltName: Full=LIM/homeobox protein LMX1B;
FUNCTION: Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
DISEASE: 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.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 2 LIM zinc-binding domains.
SEQUENCE CAUTION: Sequence=CAH70294.1; Type=Erroneous initiation; Sequence=CAI40917.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LMX1B";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LMX1B
Diseases sorted by gene-association score: nail-patella syndrome* (1726), genitopatellar syndrome (20), renal dysplasia (11), open-angle glaucoma (9), alport syndrome, autosomal recessive (6), meier-gorlin syndrome 1 (3), parkinson disease, late-onset (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.57 RPKM in Breast - Mammary Tissue
Total median expression: 8.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -312.60522-0.599 Picture PostScript Text
3' UTR -1855.304581-0.405 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR001781 - Znf_LIM

Pfam Domains:
PF00046 - Homeodomain
PF00412 - LIM domain
PF05920 - Homeobox KN domain
PF14049 - Dppa2/4 conserved region in higher vertebrates

SCOP Domains:
46689 - Homeodomain-like
57716 - Glucocorticoid receptor-like (DNA-binding domain)

ModBase Predicted Comparative 3D Structure on O60663
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0009953 dorsal/ventral pattern formation
GO:0030182 neuron differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0071542 dopaminergic neuron differentiation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  JD056189 - Sequence 37213 from Patent EP1572962.
AB587444 - Synthetic construct DNA, clone: pF1KB7670, Homo sapiens LMX1B gene for LIM homeobox transcription factor 1, beta, without stop codon, in Flexi system.
BC112120 - Homo sapiens LIM homeobox transcription factor 1, beta, mRNA (cDNA clone MGC:138325 IMAGE:8327588), complete cds.
BC113491 - Homo sapiens LIM homeobox transcription factor 1, beta, mRNA (cDNA clone MGC:142051 IMAGE:8322543), complete cds.
BC143801 - Homo sapiens LIM homeobox transcription factor 1, beta, mRNA (cDNA clone MGC:177332 IMAGE:9052315), complete cds.
CU686928 - Synthetic construct Homo sapiens gateway clone IMAGE:100022666 5' read LMX1B mRNA.
KU178166 - Homo sapiens LIM homeobox transcription factor 1 beta isoform 1 (LMX1B) mRNA, partial cds.
KU178167 - Homo sapiens LIM homeobox transcription factor 1 beta isoform 2 (LMX1B) mRNA, partial cds.
HQ258228 - Synthetic construct Homo sapiens clone IMAGE:100072537 LIM homeobox transcription factor 1, beta (LMX1B) (LMX1B) gene, encodes complete protein.
KJ901557 - Synthetic construct Homo sapiens clone ccsbBroadEn_10951 LMX1B gene, encodes complete protein.
KR711599 - Synthetic construct Homo sapiens clone CCSBHm_00027598 LMX1B (LMX1B) mRNA, encodes complete protein.
KR711600 - Synthetic construct Homo sapiens clone CCSBHm_00027611 LMX1B (LMX1B) mRNA, encodes complete protein.
KR711601 - Synthetic construct Homo sapiens clone CCSBHm_00027617 LMX1B (LMX1B) mRNA, encodes complete protein.
KR711602 - Synthetic construct Homo sapiens clone CCSBHm_00027649 LMX1B (LMX1B) mRNA, encodes complete protein.
HQ447493 - Synthetic construct Homo sapiens clone IMAGE:100070827; CCSB013957_02 LIM homeobox transcription factor 1, beta (LMX1B) gene, encodes complete protein.
KJ901556 - Synthetic construct Homo sapiens clone ccsbBroadEn_10950 LMX1B gene, encodes complete protein.
AF057135 - Homo sapiens LIM homeodomain protein LMX1B mRNA, complete cds.
BC069601 - Homo sapiens LIM homeobox transcription factor 1, beta, mRNA (cDNA clone MGC:97142 IMAGE:7262383), complete cds.
BC069588 - Homo sapiens LIM homeobox transcription factor 1, beta, mRNA (cDNA clone IMAGE:7262466), partial cds.
U77457 - Homo sapiens LIM-homeodomain protein LMX1B/LMX1.2 mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000373474.1, ENST00000373474.2, ENST00000373474.3, ENST00000373474.4, ENST00000373474.5, ENST00000373474.6, ENST00000373474.7, ENST00000373474.8, F8W7W6, LMX1B_HUMAN, NM_001174147, O60663, O75463, Q5JU95, Q6ISC9, uc318kuh.1, uc318kuh.2
UCSC ID: ENST00000373474.9_9
RefSeq Accession: NM_001174147.2
Protein: O60663 (aka LMX1B_HUMAN or LMXB_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene LMX1B:
nail-ps (Nail-Patella Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.