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LHX3 Gene

protein-coding   GIFtS: 60
GCID: GC09M139088

LIM Homeobox 3

  See LHX3-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 31 2     M2-LHX32
LIM Homeobox Protein 32 3     LIM/Homeobox Protein Lhx32
CPHD32 5     LIM/Homeodomain Protein LHX32
LIM32     

External Ids:    HGNC: 65951   Entrez Gene: 80222   Ensembl: ENSG000001071877   OMIM: 6005775   UniProtKB: Q9UBR43   

Export aliases for LHX3 gene to outside databases

Previous GC identifers: GC09M130237 GC09M130859 GC09M132611 GC09M134527 GC09M136314 GC09M138227 GC09M108552


(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 LHX3 Gene:
This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding
domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron
specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results
in multiple transcript variants. (provided by RefSeq, Dec 2010)

GeneCards Summary for LHX3 Gene:
LHX3 (LIM homeobox 3) is a protein-coding gene. Diseases associated with LHX3 include pituitary hormone deficiency, combined 3, and lhx3-related combined pituitary hormone deficiency. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II transcription factor binding transcription factor activity. An important paralog of this gene is ISL1.

UniProtKB/Swiss-Prot: LHX3_HUMAN, Q9UBR4
Function: Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene,
and synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By
similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous
system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1

Gene Wiki entry for LHX3 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  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LHX3 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LHX3 promoter sequence
   Search Chromatin IP Primers for LHX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LHX3


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

LHX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LHX3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M139088:  view genomic region     (about GC identifiers)

Start:
139,088,096 bp from pter      End:
139,096,955 bp from pter
Size:
8,860 bases      Orientation:
minus 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: LHX3_HUMAN, Q9UBR4 (See protein sequence)
Recommended Name: LIM/homeobox protein Lhx3  
Size: 397 amino acids; 43358 Da
Subunit: At neuronal promoters, interacts with LDB1, in motor neurons LDB1 is displaced by ISL1 and a ternary
complex is formed in which ISL1 contacts both LHX3 and LDB1 (By similarity)
Secondary accessions: Q5TB39 Q5TB40 Q9NZB5 Q9P0I8 Q9P0I9
Alternative splicing: 2 isoforms:  Q9UBR4-1   Q9UBR4-2   

Explore the universe of human proteins at neXtProt for LHX3: NX_Q9UBR4

Explore proteomics data for LHX3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LHX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055379.1  NP_835258.1  

    ENSEMBL proteins: 
     ENSP00000360811   ENSP00000360813  

    LHX3 Human Recombinant Protein Products:

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    Novus Biologicals LHX3 Protein
    Novus Biologicals LHX3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LHX3

     
    Search eBioscience for Proteins for LHX3 

     
    antibodies-online proteins for LHX3 (8 products) 

     
    antibodies-online peptides for LHX3

    LHX3 Antibody Products:

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    antibodies-online antibodies for LHX3 (19 products) 

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    Cloud-Clone Corp. CLIAs for LHX3
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    antibodies-online kits for LHX3 (20 products) 


    (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 Q9UBR4

    ProtoNet protein and cluster: Q9UBR4

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: LHX3_HUMAN, Q9UBR4
    Domain: The LIM domain specifically interacts with the Pit-1 POU domain and is required for synergistic
    interactions with Pit-1, but not for basal transcriptional activation events (By similarity)
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 2 LIM zinc-binding domains


    Find genes that share domains with LHX3           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: LHX3_HUMAN, Q9UBR4
    Function: Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene,
    and synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By
    similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous
    system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001076RNA polymerase II transcription factor binding transcription factor activity IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with LHX3           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for LHX3:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased resistance to MDM2 i 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Lhx3):
     craniofacial  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with LHX3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Lhx3tm1Lmgd for LHX3

       genOway: Develop your customized and physiologically relevant rodent model for LHX3

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ADBTAATTAR 

    miRNA
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    Block miRNA regulation of human, mouse, rat LHX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LHX3 (see all 11):
    hsa-miR-196a* hsa-miR-3616-5p hsa-miR-3647-5p hsa-miR-1271 hsa-miR-888* hsa-miR-182 hsa-miR-1276 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidLHX3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LHX3
    Predesigned siRNA for gene silencing in human, mouse, rat LHX3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): LHX3 (NM_178138)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX3

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    Browse ESI BIO Cell Lines and PureStem Progenitors for LHX3 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX3


    (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
    LHX3_HUMAN, Q9UBR4: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IEA--

    Find genes that share ontologies with LHX3           About GenesLikeMe


    (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 LHX3 About    
    See pathways by source

    SuperPathContained pathways About
    1Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for LHX3
        Development Role of Activin A in cell differentiation and proliferation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LHX3
    Interactions:

        GeneGlobe Interaction Network for LHX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for LHX3 (Q9UBR43 ENSP000003608114) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ISL1P613713, ENSP000002306584I2D: score=3 STRING: ENSP00000230658
    IFT172Q9UG013, ENSP000002605704I2D: score=2 STRING: ENSP00000260570
    LDB1Q86U703, ENSP000003924664I2D: score=2 STRING: ENSP00000392466
    RLIMQ9NVW23, ENSP000002535714I2D: score=2 STRING: ENSP00000253571
    LMX1AQ8TE123, ENSP000002948164I2D: score=1 STRING: ENSP00000294816
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0008045motor neuron axon guidance IEA--
    GO:0009887organ morphogenesis TAS10598593

    Find genes that share ontologies with LHX3           About GenesLikeMe



    (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 LHX3

    3 Novoseek inferred chemical compound relationships for LHX3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 35.3 2 12536356 (1), 11220702 (1)
    tyrosine 0 3 11255008 (2), 11279219 (1)
    cysteine 0 2 11255008 (1), 11279219 (1)



    Find genes that share compounds with LHX3           About GenesLikeMe



    (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 LHX3 gene (2 alternative transcripts): 
    NM_014564.3  NM_178138.4  

    Unigene Cluster for LHX3:

    LIM homeobox 3
    Hs.148427  [show with all ESTs]
    Unigene Representative Sequence: AB593065
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371746(uc004cgz.3 uc022bpm.1) ENST00000371748(uc004cha.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LHX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LHX3 (see all 11):
    hsa-miR-196a* hsa-miR-3616-5p hsa-miR-3647-5p hsa-miR-1271 hsa-miR-888* hsa-miR-182 hsa-miR-1276 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidLHX3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LHX3
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LHX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LHX3
      QuantiTect SYBR Green Assays in human, mouse, rat LHX3
      QuantiFast Probe-based Assays in human, mouse, rat LHX3

    Additional mRNA sequence: 

    AB593062.1 AB593063.1 AB593064.1 AB593065.1 AB593066.1 AB593067.1 AF096169.1 AF156889.1 

    3 DOTS entries:

    DT.70102453  DT.100683879  DT.121157507 

    16 AceView cDNA sequences:

    NM_014564 NM_178138 BM799949 AI939381 AF096169 AF156889 AF156888 BU165468 
    AI198142 BM665174 BQ189536 BG395220 BG473308 H52572 H52168 BE255970 

    GeneLoc Exon Structure


    (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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    LHX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGTCACC
    LHX3 Expression
    About this image


    LHX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 10 entries
             Motor Neural Progenitor Cells Motor Neural Progenitor Domain
             Metencephalon
             Neuronal progenitor cells
     
     Neurons
             Median Motor Neurons Median Motor Column
             Lateral motor column neuron-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 7 entries
             Median Motor Neurons Median Motor Column
             Lateral motor column neuron-like cells
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)
             Retina
    LHX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LHX3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.148427
        Custom PCR Arrays for LHX3
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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 LHX3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lhx31 , 5 LIM homeobox protein 31, 5 88.06(n)1
    94.03(a)1
      2 (18.44 cM)5
    168711  NM_001039653.11  NP_001034742.11 
     262002125 
    chicken
    (Gallus gallus)
    Aves LHX31 LIM homeobox 3 80.14(n)
    82.75(a)
      373940  NM_001030335.1  NP_001025506.1 
    lizard
    (Anolis carolinensis)
    Reptilia LHX36
    LIM homeobox 3
    81(a)
    1 ↔ 1
    AAWZ02037440(7705-13217)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xlim-32 Xlim-3 protein 76.34(n)    Z22702.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_131208.12   -- 78.49(n)   30455  NM_131208.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lim31 , 3 specific RNA polymerase II
    transcription factor3
    Lim31
    66(a)3
    61.64(n)1
    56.21(a)1
      351841  NM_001259156.11  NP_001246085.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-143 LIM homeobox protein 57(a)
    (best of 3)
      X(7563786-7565411)   --


    ENSEMBL Gene Tree for LHX3 (if available)
    TreeFam Gene Tree for LHX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LHX3 gene
    ISL12  LHX22  LHX92  LMX1B2  LHX52  LHX62  LHX12  LMX1A2  
    LHX42  LHX82  ISL22  
    Selected SIMAP similar genes for LHX3 using alignment to 6 protein entries:     LHX3_HUMAN (see all proteins) (see all similar genes):
    LHx4    LHX4    LHX2    LMO3    LMO1    DUX4
    LHX8    LIMK1    LMO4    LHX6    ABLIM1    LIMS1
    LMO2    LHX1    ISL1    LMX1A    PDLIM5    LMX1B

    Find genes that share paralogs with LHX3           About GenesLikeMe



    (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 LHX3 (see all 259)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632404
    Pituitary hormone deficiency, combined, 3 (CPHD3)4--see VAR_0632402 A V mis40--------
    VAR_0107134
    Pituitary hormone deficiency, combined, 3 (CPHD3)4--see VAR_0107132 Y C mis40--------
    rs1048941171,2
    Cpathogenic1139124929(-) CGTGTA/GCCACC 4 Y C mis10--------
    rs32157741,2
    C--139090465(+) TCGTCC/-CCCCC 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs1885983911,2
    --139120979(+) AGCTGA/GAGAGA 2 -- ds50010--------
    rs1423035391,2
    --139121114(+) CCTGCC/TTCTCC 2 -- ds50010--------
    rs1929595481,2
    --139121124(+) CCAGGA/GACAGG 2 -- ds50010--------
    rs2021107691,2
    C--139121193(+) CTTCC-/AAGTGC 2 -- ds50010--------
    rs1134032251,2
    C,F--139121284(+) CTCAGG/CGCCCC 2 -- ds50011Minor allele frequency- C:0.50WA 2
    rs1868858681,2
    --139121420(+) GAGCTA/GATCAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for LHX3 (139088096 - 139096955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LHX3 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv8386n71CNV Loss21882294
    dgv8388n71CNV Loss21882294
    nsv469917CNV Loss18288195
    nsv894324CNV Loss21882294
    nsv894322CNV Loss21882294
    nsv894294CNV Loss21882294
    dgv8382n71CNV Loss21882294
    dgv8383n71CNV Loss21882294
    dgv8385n71CNV Loss21882294
    dgv8387n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): LHX3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LHX3
    DNA2.0 Custom Variant and Variant Library Synthesis for LHX3

    (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: 600577   
    OMIM disorders: 221750  
    UniProtKB/Swiss-Prot: LHX3_HUMAN, Q9UBR4
  • Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]: Combined pituitary hormone deficiency is
    defined as the impaired production of growth hormone and one or more of the other five anterior pituitary
    hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary
    hormone and a rigid cervical spine leading to limited head rotation. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 13 diseases for LHX3:    
    About MalaCards
    pituitary hormone deficiency, combined 3    lhx3-related combined pituitary hormone deficiency    amyotrophic lateral sclerosis 14, with or without frontotemporal dementia    neonatal thyrotoxicosis
    thyrotoxicosis    combined pituitary hormone deficiency    hypopituitarism    pituitary hypoplasia
    panhypopituitarism    hypothyroidism due to deficient transcription factors involved in pituitary development or function    borjeson-forssman-lehmann syndrome    septo-optic dysplasia
    acth deficiency

    4 diseases from the University of Copenhagen DISEASES database for LHX3:
    Hypopituitarism     Pituitary hypoplasia     Holoprosencephaly     Neonatal thyrotoxicosis

    Find genes that share disorders with LHX3           About GenesLikeMe

    10 Novoseek inferred disease relationships for LHX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    panhypopituitarism 93.3 23 19337183 (2), 17327381 (2), 12173688 (1), 18157385 (1) (see all 13)
    septo-optic dysplasia 91.4 1 18291347 (1)
    hormone deficiency 87.7 3 10946868 (1), 17327381 (1), 17616267 (1)
    hypopituitarism 84.7 5 18407919 (2), 10946868 (1), 18728160 (1), 18157385 (1)
    deficiency diseases 78.9 2 12173688 (1), 19337183 (1)
    kallmann syndrome 66.2 1 12536356 (1)
    hypoplasia 58.8 2 18291347 (1)
    pituitary diseases 56.4 3 11255008 (1), 10717474 (1)
    empty sella 55.1 1 15279086 (1)
    hypothyroidism 32.7 2 12244277 (1), 15611819 (1)

    Genetic Association Database (GAD): LHX3
    Human Genome Epidemiology (HuGE) Navigator: LHX3 (2 documents)

    Export disorders for LHX3 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 LHX3 gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with LHX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties. (PubMed id 10598593)1, 2, 3, 9 Sloop K.W....Rhodes S.J. (Mol. Endocrinol. 1999)
    2. Serine/threonine/tyrosine phosphorylation of the LHX3 LIM-homeodomain transcription factor. (PubMed id 15517599)1, 2, 9 Parker G.E.... Rhodes S.J. (J. Cell. Biochem. 2005)
    3. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. (PubMed id 17327381)1, 2, 9 Pfaeffle R.W.... Rhodes S.J. (J. Clin. Endocrinol. Metab. 2007)
    4. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. (PubMed id 10835633)1, 2, 9 Netchine I....Amselem S. (Nat. Genet. 2000)
    5. Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9. (PubMed id 10717474)1, 3, 9 Sloop K.W....Rhodes S.J. (Gene 2000)
    6. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. (PubMed id 20534763)1, 4 Dateki S....Ogata T. (J. Clin. Endocrinol. Metab. 2010)
    7. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    8. Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. (PubMed id 18407919)1, 9 Rajab A....Dattani M.T. (Hum. Mol. Genet. 2008)
    9. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. (PubMed id 15567726)1, 9 Sobrier M.L....Amselem S. (Gene Expr. Patterns 2004)
    10. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. (PubMed id 16394081)1, 9 Bhangoo A.P....Rhodes S.J. (J. Clin. Endocrinol. Metab. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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

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    Entrez Gene: 8022 HGNC: 6595 AceView: LHX3 Ensembl:ENSG00000107187 euGenes: HUgn8022
    ECgene: LHX3 H-InvDB: LHX3

    (According to HUGE)
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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 LHX3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LHX3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LHX3[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 LHX3 gene:
    Search GeneIP for patents involving LHX3

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



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