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LHX4 Gene

protein-coding   GIFtS: 57
GCID: GC01P180199

LIM Homeobox 4

  See 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 41 2
LIM Homeobox Protein 42 3
CPHD42 5
LIM/Homeobox Protein Lhx42

External Ids:    HGNC: 217341   Entrez Gene: 898842   Ensembl: ENSG000001214547   OMIM: 6021465   UniProtKB: Q969G23   

Export aliases for LHX4 gene to outside databases

Previous GC identifers: GC01P177723 GC01P175627 GC01P176719 GC01P177438 GC01P176931 GC01P178466 GC01P151430


(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 LHX4 Gene:
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich
zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and
development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4.
(provided by RefSeq, Dec 2010)

GeneCards Summary for LHX4 Gene:
LHX4 (LIM homeobox 4) is a protein-coding gene. Diseases associated with LHX4 include lhx4-related combined pituitary hormone deficiency, and pituitary hormone deficiency, combined 4. 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: LHX4_HUMAN, Q969G2
Function: May play a critical role in the development of respiratory control mechanisms and in the normal growth
and maturation of the lung (By similarity)

Gene Wiki entry for LHX4 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the LHX4 gene promoter:
         GR   SRF   Bach1   Sp1   p300   SRF (504 AA)   MyoD   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLHX4 promoter sequence
   Search Chromatin IP Primers for LHX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LHX4


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

Entrez Gene cytogenetic band: 1q25.2   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25.3

LHX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LHX4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P180199:  view genomic region     (about GC identifiers)

Start:
180,199,421 bp from pter      End:
180,249,380 bp from pter
Size:
49,960 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2 (See protein sequence)
Recommended Name: LIM/homeobox protein Lhx4  
Size: 390 amino acids; 43124 Da
Sequence caution: Sequence=BAB62817.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q8NHE0 Q8NHM1 Q8TCJ1 Q8WWX2 Q969W2

Explore the universe of human proteins at neXtProt for LHX4: NX_Q969G2

Explore proteomics data for LHX4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LHX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_203129.1  
    ENSEMBL proteins: 
     ENSP00000263726   ENSP00000452783  

    LHX4 Human Recombinant Protein Products:

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    Novus Biologicals LHX4 Proteins
    Novus Biologicals LHX4 Lysates
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LHX4

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    Abcam antibodies for LHX4
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    LSBio Antibodies in human, mouse, rat for LHX4

    LHX4 Assay Products:

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    Cloud-Clone Corp. ELISAs for LHX4
    Cloud-Clone Corp. CLIAs for LHX4


    (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 Q969G2

    ProtoNet protein and cluster: Q969G2

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 2 LIM zinc-binding domains


    LHX4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LHX4_HUMAN, Q969G2
    Function: May play a critical role in the development of respiratory control mechanisms and in the normal growth
    and maturation of the lung (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    LHX4 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lhx4):
     cellular  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  nervous system 
     respiratory system 

    LHX4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lhx4tm1Ssp for LHX4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LHX4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LHX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LHX4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LHX4

    miRNA
    Products:
        
    miRTarBase miRNAs that target LHX4:
    hsa-mir-1 (MIRT023725)

    Block miRNA regulation of human, mouse, rat LHX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LHX4 (see all 14):
    hsa-miR-3688-3p hsa-miR-186* hsa-miR-130a* hsa-miR-765 hsa-miR-4299 hsa-miR-23c hsa-miR-513c hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidLHX4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LHX4
    Predesigned siRNA for gene silencing in human, mouse, rat LHX4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for LHX4

    Clone
    Products:
         
    OriGene clones in human, mouse for LHX4 (see all 6)
    OriGene ORF clones in mouse, rat for LHX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LHX4 (NM_033343)
    Sino Biological Human cDNA Clone for LHX4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX4

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LHX4
    Browse ESI BIO Cell Lines and PureStem Progenitors for LHX4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX4


    (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
    LHX4_HUMAN, Q969G2: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--

    LHX4 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LHX4
    Interactions:

        GeneGlobe Interaction Network for LHX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for LHX4 (Q969G23 ENSP000002637264) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFT172Q9UG013, ENSP000002605704I2D: score=2 STRING: ENSP00000260570
    ISL1P613713, ENSP000002306584I2D: score=1 STRING: ENSP00000230658
    LDB1Q86U703, ENSP000003924664I2D: score=1 STRING: ENSP00000392466
    LDB2O436793, ENSP000003067724I2D: score=1 STRING: ENSP00000306772
    SSX1Q163843, ENSP000003661184I2D: score=1 STRING: ENSP00000366118
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0008045motor neuron axon guidance IEA--
    GO:0009887organ morphogenesis IEA--

    LHX4 for ontologies           About GeneDecksing



    (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 LHX4



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LHX4 gene: 
    NM_033343.3  

    Unigene Cluster for LHX4:

    LIM homeobox 4
    Hs.658487  [show with all ESTs]
    Unigene Representative Sequence: NM_033343
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263726(uc001goe.2) ENST00000558139 ENST00000561113
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LHX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LHX4 (see all 14):
    hsa-miR-3688-3p hsa-miR-186* hsa-miR-130a* hsa-miR-765 hsa-miR-4299 hsa-miR-23c hsa-miR-513c hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidLHX4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LHX4
    Predesigned siRNA for gene silencing in human, mouse, rat LHX4
    Clone
    Products:
         
    OriGene clones in human, mouse for LHX4 (see all 6)
    OriGene ORF clones in mouse, rat for LHX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LHX4 (NM_033343)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LHX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LHX4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LHX4
    OriGene qSTAR qPCR primer pairs in human, mouse for LHX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LHX4
      QuantiTect SYBR Green Assays in human, mouse, rat LHX4
      QuantiFast Probe-based Assays in human, mouse, rat LHX4

    Additional mRNA sequence: 

    AB037683.1 AB055703.1 AF179849.1 AF282899.1 AY053457.1 BC011759.2 

    2 DOTS entries:

    DT.91723858  DT.97835374 

    15 AceView cDNA sequences:

    AB037683 AL712800 AB055703 NM_033343 AF282899 BC011759 BX282596 AB055704 
    BG026319 BX954266 BX642571 AF179849 AI127590 BE295107 BI113679 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for LHX4    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6
    SP1:              -                                 
    SP2:                                                


    ECgene alternative splicing isoforms for LHX4

    (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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    LHX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGGGGAC
    LHX4 Expression
    About this image


    LHX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neurons
             Median Motor Neurons Median Motor Column
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Median Motor Neurons Median Motor Column
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Cranial Visceral Motor Neurons Motor Neural Progenitor Domain
             Metencephalon
             Floor plate-like cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    LHX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LHX4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658487
        Custom PCR Arrays for LHX4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for LHX4
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    QuantiFast Probe-based Assays in human, mouse, rat LHX4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX4

    (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 LHX4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lhx41 , 5 LIM homeobox protein 41, 5 93.08(n)1
    98.97(a)1
      1 (67.47 cM)5
    168721  NM_010712.21  NP_034842.21 
     1556980365 
    chicken
    (Gallus gallus)
    Aves LHX41 LIM homeobox 4 83.61(n)
    92.31(a)
      776024  XM_001235591.3  XP_001235592.3 
    lizard
    (Anolis carolinensis)
    Reptilia LHX46
    LIM homeobox 4
    94(a)
    1 ↔ 1
    4(70252824-70351783)
    zebrafish
    (Danio rerio)
    Actinopterygii lhx41 LIM homeobox 4 74.94(n)
    83.98(a)
      571943  NM_001122973.1  NP_001116445.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lim33 specific RNA polymerase II
    transcription factor
    48(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-143 LIM homeobox protein 57(a)
    (best of 2)
      X(7563786-7565411)   --


    ENSEMBL Gene Tree for LHX4 (if available)
    TreeFam Gene Tree for LHX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LHX4 gene
    ISL12  LHX22  LHX92  LMX1B2  LHX52  LHX62  LHX12  LMX1A2  
    LHX32  LHX82  ISL22  
    Selected SIMAP similar genes for LHX4 using alignment to 5 protein entries:     LHX4_HUMAN (see all proteins) (see all similar genes):
    LHX3    LMO3    LMO1    LHX1    LHX2    LHX6
    LHX8    LMO4    LHX9    LMO2    LMX1B    LIMD1
    ISL2    FBLIM1    LIMS3    LIMS1    FHL1    LMX1A

    LHX4 for paralogs           About GeneDecksing



    (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 LHX4 (see all 1037)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1454331281,2,,4
    CPituitary hormone deficiency, combined, 4 (CPHD4)4 --186797925(+) ATCCTA/CCTTTT 2 T P mis10--------
    VAR_0587174
    Pituitary hormone deficiency, combined, 4 (CPHD4)4--see VAR_0587172 A P mis40--------
    VAR_0587154
    Pituitary hormone deficiency, combined, 4 (CPHD4)4--see VAR_0587152 R C mis40--------
    VAR_0587164
    Pituitary hormone deficiency, combined, 4 (CPHD4)4--see VAR_0587162 L R mis40--------
    rs1219126421,2
    Cpathogenic1186789769(+) ACAGGC/TGCTTC 2 R C mis11Minor allele frequency- T:0.00EU 1317
    rs1844414441,2
    --151428384(+) CAAAAC/TATAAT 1 -- us2k10--------
    rs38428921,2
    C,F,A--151428452(+) TGGAAC/TAGACA 1 -- us2k18Minor allele frequency- T:0.31NA WA CSA EA 368
    rs38942081,2
    --151434301(-) CTATTA/TTATAT 1 -- int10--------
    rs569107511,2
    C--151434302(+) TATATA/TATAGA 1 -- int10--------
    rs349799701,2
    C--151462356(+) AAAGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for LHX4 (180199421 - 180249380 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for LHX4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661645CNV Deletion23128226
    esv2660683CNV Deletion23128226
    esv29505CNV Loss19812545
    dgv410n71CNV Loss21882294
    esv23910CNV Loss19812545
    nsv872575CNV Loss21882294
    nsv832004CNV Gain17160897
    nsv466239CNV Gain19166990

    Human Gene Mutation Database (HGMD): LHX4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LHX4
    DNA2.0 Custom Variant and Variant Library Synthesis for LHX4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602146   
    OMIM disorders: 262700  
    UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2
  • Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]: Combined pituitary hormone deficiency is
    defined as the impaired production of growth hormone and one or more of the other five anterior pituitary
    hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating
    hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features
    include short stature, cerebellar defects, and small sella turcica. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia.
    Translocation t(1;14)(q25;q32) with IGHG1

  • Selected diseases for LHX4 (see all 21):    
    About MalaCards
    lhx4-related combined pituitary hormone deficiency    pituitary hormone deficiency, combined 4    pituitary stalk interruption syndrome    combined pituitary hormone deficiency
    hypothyroidism due to deficient transcription factors involved in pituitary development or function    hypopituitarism    panhypopituitarism    borjeson-forssman-lehmann syndrome
    pituitary hypoplasia    isolated growth hormone deficiency    growth hormone deficiency    short stature
    holoprosencephaly    synovial sarcoma    hypothyroidism    lymphoblastic leukemia
    sarcoma    leukemia    neuronitis    multiple myeloma

    3 diseases from the University of Copenhagen DISEASES database for LHX4:
    Hypopituitarism     Pituitary hypoplasia     Holoprosencephaly

    LHX4 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for LHX4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    panhypopituitarism 90.6 5 19337183 (2), 17527005 (2), 20389107 (1)
    hypopituitarism 86.1 1 18728160 (1)
    short stature 66.9 2 11567216 (2)

    Genetic Association Database (GAD): LHX4
    Human Genome Epidemiology (HuGE) Navigator: LHX4 (3 documents)

    Export disorders for LHX4 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 LHX4 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with LHX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. (PubMed id 11567216)1, 2, 3, 9 Machinis K.... Amselem S. (Am. J. Hum. Genet. 2001)
    2. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. (PubMed id 17527005)1, 2, 9 Tajima T....Fujieda K. (Endocr. J. 2007)
    3. 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)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. (PubMed id 18073311)1, 2 Pfaeffle R.W.... Rhodes S.J. (J. Clin. Endocrinol. Metab. 2008)
    6. cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4. (PubMed id 11844481)1, 3 Liu Y....Qiang B. (Brain Res. 2002)
    7. A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4. (PubMed id 12118377)1, 2 Kawamata N....Oshimi K. (Oncogene 2002)
    8. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. (PubMed id 15998782)1, 9 Machinis K. and Amselem S. (J. Clin. Endocrinol. Metab. 2005)
    9. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. (PubMed id 10788441)1, 9 Howard P.W. and Maurer R.A. (J. Biol. Chem. 2000)
    10. Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. (PubMed id 23199197)1 Yang Y....Mu Y.M. (Clin. Endocrinol. (Oxf) 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
    PubMed
    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: 89884 HGNC: 21734 AceView: LHX4 Ensembl:ENSG00000121454 euGenes: HUgn89884
    ECgene: LHX4 H-InvDB: LHX4

    (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)
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    NameDescription
    PharmGKB entry for LHX4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LHX4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LHX4[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 LHX4 gene:
    Search GeneIP for patents involving LHX4

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



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