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

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LHX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LHX4_HUMAN, Q969G2 (See protein sequence)
Recommended Name: LIM/homeobox protein Lhx4  
Size: 390 amino acids; 43124 Da
Subcellular location: Nucleus (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q969G2

  • LHX4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LHX4 Protein Expression
    REFSEQ proteins: NP_203129.1  
    ENSEMBL proteins: 
     ENSP00000263726   ENSP00000452783  

    Human Recombinant Protein Products for LHX4: 
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    OriGene Protein Over-expression Lysate for LHX4
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for LHX4
    GenScript Custom Purified and Recombinant Proteins Services for LHX4
    Novus Biologicals LHX4 Proteins
    Novus Biologicals LHX4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LHX4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    LHX4 for ontologies           About GeneDecksing



    LHX4 Antibody Products: 
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    ThermoFisher Antibodies for LHX4
    LSBio Antibodies in human, mouse, rat for LHX4 

    Assay Products for LHX4: 
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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)
    About This Section
    HGNC Gene Families: 
    LIM: Homeoboxes / LIM class

    4 InterPro protein domains:
     IPR001781 Znf_LIM
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for LHX4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX4
    8/14 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LHX4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LHX4

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of LHX4

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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
    Sirion Biotech Customized lentivirus for stable overexpression of LHX4 
                         Customized lentivirus expression plasmids for stable overexpression of LHX4 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHX4


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LHX4

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

    5/8 Interacting proteins for LHX4 (Q969G23 ENSP000002637264) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFT172Q9UG013, ENSP000002605704I2D: score=2 STRING: ENSP00000260570
    ISL1P613713, ENSP000002306584I2D: score=1 STRING: ENSP00000230658
    LDB1Q86U703, ENSP000003924664I2D: score=1 STRING: ENSP00000392466
    SSX1Q163843, ENSP000003661184I2D: score=1 STRING: ENSP00000366118
    ISL2Q96A473I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LHX4

    Search CenterWatch for drugs/clinical trials and news about 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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LHX4
    8/14 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LHX4
    QIAGEN FlexiTube/FlexiPlate 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
    Sirion Biotech Customized lentivirus for stable overexpression of LHX4 
                         Customized lentivirus expression plasmids for stable overexpression of LHX4 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LHX4
    OriGene qSTAR qPCR primer pairs in human, mouse for LHX4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LHX4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LHX4
      QIAGEN 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:

    AF282899 NM_033343 BC011759 AB037683 AB055703 AL712800 BX282596 BX642571 
    AF179849 BX954266 BG026319 AB055704 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™, 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

    LHX4 expression in normal human tissues (normalized intensities)      LHX4 embryonic expression: see
    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 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Olfactory Bulb   
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Cranial Visceral Motor Neurons Motor Neural Progenitor Domain
             Metencephalon
             brain/midbrain/lateral wall   
     
     Spinal Cord (Nervous System)    fully expand to see all 6 entries
             Median Motor Neurons Median Motor Column
             Ventral Horn   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Eye (Sensory Organs)
             Retina

    See LHX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LHX4

    SOURCE GeneReport for Unigene cluster: Hs.658487
        SABiosciences Custom PCR Arrays for LHX4
    Primer
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LHX4 gene from 6/13 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 83.56(n)
    92.1(a)
      776024  XM_001235591.2  XP_001235592.2 
    lizard
    (Anolis carolinensis)
    Reptilia LHX46
    LIM homeobox 4
    93(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)
    About This Section
    Paralogs for LHX4 gene
    ISL12  LMO22  LHX22  LHX92  LMX1B2  LHX52  LMO12  LHX62  
    LMO42  LHX12  LMX1A2  LMO32  LHX32  LHX82  ISL22  
    18/30 SIMAP similar genes for LHX4 using alignment to 5 protein entries:     LHX4_HUMAN (see all proteins) (see all similar genes):
    LHX3    LMO3    LMO1    LHX1    LHX6    LHX2
    LHX8    LMO4    LHX9    ISL2    LMO2    LMX1B
    LIMD1    FBLIM1    ISL1    LIMS3    LIMS1    FHL1

    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) 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

    10/1037 SNPs in LHX4 are shown (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
    ----------
    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--------
    rs1454331281,2,4
    CPituitary hormone deficiency, combined, 4 (CPHD4)4 --186797925(+) ATCCTA/CCTTTT 2 T P mis10--------
    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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 19 diseases for LHX4:    About MalaCards
    lhx4-related combined pituitary hormone deficiency    pituitary hormone deficiency, combined 4    pituitary stalk interruption syndrome    combined pituitary hormone deficiency
    hypopituitarism    panhypopituitarism    pituitary hypoplasia    borjeson-forssman-lehmann syndrome
    isolated growth hormone deficiency    short stature    growth hormone deficiency    holoprosencephaly
    synovial sarcoma    hypothyroidism    acute lymphoblastic leukemia    lymphoblastic leukemia
    sarcoma    leukemia    neuronitis

    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)
    About This Section

    PubMed articles for LHX4 gene, integrated from 9 sources (see all 43):
    (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. (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. (2007)
    3. Mutation and gene copy number analyses of six pituita ry transcription factor genes in 71 patients with combined pituitary hormone de ficiency: identification of a single patient with LHX4 deletion. (PubMed id 20534763)1, 4 Dateki S....Ogata T. (2010)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (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. (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. (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. (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. (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. (2000)
    10. Panhypopituitarism presenting as life-threatening hear t failure caused by an inherited microdeletion in 1q25 including LHX4. (PubMed id 22232309)1 Filges I....Szinnai G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 89884 HGNC: 21734 AceView: LHX4 Ensembl:ENSG00000121454 euGenes: HUgn89884
    ECgene: LHX4 H-InvDB: LHX4

    (According to HUGE)
    About This Section
      --

    (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 LHX4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LHX4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LHX4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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