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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LHX3 Gene

protein-coding   GIFtS: 59
GCID: GC09M139088

LIM homeobox 3
 Explore 22 diseases affiliated with
LHX3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LHX3    

Aliases
for LHX3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for LHX3 gene

(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 LHX3:
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)

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 Pit-1 (By similarity)

Gene Wiki entry for LHX3


Genomic Views
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 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_019501.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LHX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for LHX3 gene

(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: LHX3_HUMAN, Q9UBR4 (See protein sequence)
Recommended Name: LIM/homeobox protein Lhx3  
Size: 397 amino acids; 43358 Da
Subcellular location: Nucleus (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBR4

    • LHX3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000360811   ENSP00000360813  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 3): LHX3
    OriGene Custom Protein Services for LHX3 
    GenScript Custom Purified and Recombinant Proteins Services for LHX3
    Novus Biologicals LHX3 Protein
    Novus Biologicals LHX3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for LHX3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus TAS10598593
    GO:0005667transcription factor complex IEA--


    LHX3 for ontologies           About GeneDecksing



    LHX3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals LHX3 Antibodies
    Abcam antibodies for LHX3 
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    ThermoFisher Antibodies for LHX3

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    GenScript Custom Assay Services for LHX3
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    Uscn ELISAs and CLIAs for LHX3

    Protein Domains /
    Families
    for LHX3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    LHX3 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 Q9UBR4

    ProtoNet protein and cluster: Q9UBR4

    1 Blocks protein family: 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


    Function
    for LHX3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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 Pit-1 (By similarity)

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX3
    8/11 QIAGEN miScript miRNA 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 plasmid: LHX3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LHX3 (see all 4)
    OriGene shRNA RFP: LHX3
    OriGene siRNA: LHX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for LHX3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LHX3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LHX3 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for LHX3
    Search LifeMap BioReagents cell lines for LHX3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX3

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000988protein binding transcription factor activity IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0043565sequence-specific DNA binding IEA--


    LHX3 for ontologies           About GeneDecksing


    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 

    Animal Models:
         Mouse knock-out Lhx3tm1Lmgd for LHX3
         8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Lhx3):
     craniofacial  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  reproductive system 

    LHX3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for LHX3 gene

    (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-pathwaycontained gene-specific pathways
    1PKA activation in glucagon signalling
    		Development Role of Activin A in cell differentiation and proliferation0.33
    		Development_Role of Activin A in cell differentiation and proliferation0.33

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for LHX3
        Development Role of Activin A in cell differentiation and proliferation


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



    LHX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LHX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for LHX3 (Q9UBR43 ENSP000003608114) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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
    LDB2O436793, ENSP000003067724I2D: score=1 STRING: ENSP00000306772
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0008045motor neuron axon guidance IEA--
    GO:0009887organ morphogenesis TAS10598593
    GO:0009953dorsal/ventral pattern formation ----


    LHX3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for LHX3 gene

    (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

    LHX3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LHX3
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about LHX3 

    Transcripts
    for LHX3 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX3
    8/11 QIAGEN miScript miRNA 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 plasmid: LHX3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LHX3 (see all 4)
    OriGene shRNA RFP: LHX3
    OriGene siRNA: LHX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LHX3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LHX3 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): LHX3 (NM_178138)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX3 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LHX3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LHX3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LHX3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LHX3

    Additional cDNA 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 AI939381 AF156889 AF096169 AI198142 BM799949 AF156888 
    BU165468 BM665174 BQ189536 BG395220 H52168 H52572 BG473308 BE255970 

    GeneLoc Exon Structure


    Expression
    for LHX3 gene

    (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

    LHX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATGTCACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    LHX3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/13 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 13) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordMedian Motor ColumnMedial Neurons of the Median Motor ColumnMotor Neurons
    Spinal CordMedian Motor ColumnMedian Motor NeuronsMotor Neurons
    Spinal CordMotor Neural Progenitor DomainMotor Neural Progenitor CellsMotor Neurons
    Spinal CordV2 Neural Progenitor DomainV2 InterneuronsMotor Neurons
    Spinal CordV2 Neural Progenitor DomainV2 Neural Progenitor CellsMotor Neurons
    Spinal CordMotor Neural Progenitor DomainCranial Visceral Motor NeuronsMotor Neurons
    Spinal CordV0 Neural Progenitor DomainV0 Neural Progenitor CellsMotor Neurons
    Spinal CordV1 Neural Progenitor DomainV1 Neural Progenitor CellsMotor Neurons
    Spinal CordMotor Neural Progenitor DomainMotor NeuronsMotor Neurons
    Spinal CordMotor Neural Progenitor DomainSomatic Motor NeuronsMotor Neurons
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Neuronal progenitors (Generation of motor ...)

    See LHX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LHX3

    SOURCE GeneReport for Unigene cluster: Hs.148427
        SABiosciences Custom PCR Arrays for LHX3
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LHX3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LHX3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LHX3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LHX3
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX3

    Orthologs
    for LHX3 gene

    (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 LHX3 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 81(a)
    		 1 ↔ 1
    		 AAWZ02037440(7705-13216)
    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
    CG10699-PA1    		 66(a)3
    61.24(n)1
    55.9(a)1    		   351841  NM_165277.21  NP_724161.11 
    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
    for LHX3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LHX3 gene
    LMO22  ISL12  LHX22  LHX92  LMX1B2  LMO12  LHX52  LMO42  
    LHX62  LHX12  LMX1A2  LMO32  LHX42  LHX82  ISL22  
    18/23 SIMAP similar genes for LHX3 using alignment to 6 protein entries:     LHX3_HUMAN (see all proteins) (see all similar genes):
    LHx4    LHX4    LHX2    LMO1    LMO3    DUX4
    LHX8    LHX6    LIMK1    LMO4    ABLIM1    LIMS1
    LMO2    LHX1    ISL1    LMX1A    PDLIM5    LMX1B

    LHX3 for paralogs           About GeneDecksing



    Genomic Variants
    for LHX3 gene

    (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

    10/188 NCBI SNPs in LHX3 are shown (see all 188)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048941171,2
    		Cpathogenic139091646(-) CGTGTA/GCCACC 4 Y C mis10--------
    rs1885983911,2
    		--139087697(+) AGCTGA/GAGAGA 2 -- ds50010--------
    rs1423035391,2
    		--139087832(+) CCTGCC/TTCTCC 2 -- ds50010--------
    rs1929595481,2
    		--139087842(+) CCAGGA/GACAGG 2 -- ds50010--------
    rs2021107691,2
    		--139087911(+) CTTCC-/AAGTGC 2 -- ds50010--------
    rs1134032251,2
    		C,--139088002(+) CTCAGG/CGCCCC 2 -- ds50011Minor allele frequency- C:0.50WA 2
    rs1868858681,2
    		--139088138(+) GAGCTA/GATCAC 2 -- ut310--------
    rs1468298171,2
    		--139088219(+) TGACTC/TTGACT 2 -- ut310--------
    rs37394701,2
    		C,F,H,--139088346(+) CTCCAG/TCGGGG 2 -- ut31 ese37Minor allele frequency- T:0.05EA NS WA 2128
    rs122374021,2
    		--139088380(+) AGAGCC/TGGCTC 2 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for LHX3 (139088096 - 139096955 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LHX3: --
    Human Gene Mutation Database (HGMD): LHX3

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for LHX3 gene

    (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
    LHX3 for disorders           About GeneDecksing

    OMIM gene information: 600577   
    OMIM disorders: 221750  
    UniProtKB/Swiss-Prot: LHX3_HUMAN, Q9UBR4
  • Defects in LHX3 are the cause of pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]; also known
    • as combined pituitary hormone deficiency with rigid cervical spine or sensorineural deafness with pituitary dwarfism.
    CPHD is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a
    rigid cervical spine leading to limited head rotation

    20/22 diseases for LHX3 (see all 22):    About MalaCards
    pituitary hormone deficiency    combined pituitary hormone deficiency    borjeson-forssman-lehmann syndrome    pituitary hormone deficiency, combined 3
    growth hormone deficiency    sensorineural hearing loss    neonatal thyrotoxicosis    kallmann syndrome
    panhypopituitarism    hearing loss    megaesophagus    short stature
    hypopituitarism    pituitary hypoplasia    thyrotoxicosis    neuronitis
    hypothyroidism    hypogonadotropism    holoprosencephaly    dwarfism

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

    10 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: LHX3 (2 documents)

    Export disorders for LHX3 gene to outside databases

    Publications
    for LHX3 gene

    (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 LHX3 gene, integrated from 9 sources (see all 91):
    (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. (1999)
    2. 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. (2007)
    3. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. (PubMed id 10835633)1, 2, 9 Netchine I....Amselem S. (2000)
    4. 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. (2000)
    5. Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. (PubMed id 18407919)1, 9 Rajab A....Dattani M.T. (2008)
    6. Serine/threonine/tyrosine phosphorylation of the LHX3 LIM-homeodomain transcription factor. (PubMed id 15517599)1, 9 Parker G.E....Rhodes S.J. (2005)
    7. 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. (2004)
    8. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. (PubMed id 16394081)1, 9 Bhangoo A.P....Rhodes S.J. (2006)
    9. The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter. (PubMed id 16613990)1, 9 Granger A....Laverriere J.N. (2006)
    10. The homeodomain coordinates nuclear entry of the Lhx3 neuroendocrine transcription factor and association with the nuclear matrix. (PubMed id 10818088)1, 9 Parker G.E....Rhodes S.J. (2000)

    External Searches for LHX3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing LHX3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8022 HGNC: 6595 AceView: LHX3 Ensembl:ENSG00000107187 euGenes: HUgn8022
    ECgene: LHX3 H-InvDB: LHX3

    Other Databases showing LHX3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LHX3 gene

    (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
    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/sites/GeneTests/lab/gene/LHX3

    Intellectual Property
    for LHX3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for LHX3 gene:
    Search GeneIP for patents involving LHX3

    GeneCards and IP:
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