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

HESX1 Gene

protein-coding   GIFtS: 52
GCID: GC03M057207

HESX Homeobox 1

(Previous names: homeobox, ES cell expressed 1)
  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
HESX Homeobox 11 2     RPX2 5
Homeobox, ES Cell Expressed 11 2     ANF2
Homeobox Protein ANF2 3     Homeobox Expressed In ES Cells 12
hAnf2 3     Rathke Pouch Homeobox2
CPHD52 5     HANF3

External Ids:    HGNC: 48771   Entrez Gene: 88202   Ensembl: ENSG000001636667   OMIM: 6018025   UniProtKB: Q9UBX03   

Export aliases for HESX1 gene to outside databases

Previous GC identifers: GC03M056103 GC03M056586 GC03M057086 GC03M057189


(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 HESX1 Gene:
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and
pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone
deficiency, and combined pituitary hormone deficiency. (provided by RefSeq, Jul 2008)

GeneCards Summary for HESX1 Gene: 
HESX1 (HESX homeobox 1) is a protein-coding gene. Diseases associated with HESX1 include septo-optic dysplasia, and pituitary stalk interruption syndrome. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: HESX1_HUMAN, Q9UBX0
Function: Required for the normal development of the forebrain, eyes and other anterior structures such as the
olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII
sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and,
in vitro, HESX1 can antagonize PROP1 activation (By similarity)

Gene Wiki entry for HESX1 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_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HESX1 gene promoter:
         Sox5   AP-1   ATF-2   Nkx2-5   HNF-1A   S8   HNF-1   FOXO1a   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HESX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HESX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HESX1


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

Entrez Gene cytogenetic band: 3p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p14.3

HESX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HESX1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M057207:  view genomic region     (about GC identifiers)

Start:
57,231,944 bp from pter      End:
57,260,549 bp from pter
Size:
28,606 bases      Orientation:
minus 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: HESX1_HUMAN, Q9UBX0 (See protein sequence)
Recommended Name: Homeobox expressed in ES cells 1  
Size: 185 amino acids; 21409 Da
Subunit: Can form heterodimers with PROP1 in binding to DNA (By similarity). Interacts with TLE1
Subcellular location: Nucleus (Probable)
Developmental stage: Strongly expressed in Rathke pouch in seven-week-old embryo
1 PDB 3D structure from and Proteopedia for HESX1:
2K40 (3D)    
Secondary accessions: Q52LC5 Q99667

Explore the universe of human proteins at neXtProt for HESX1: NX_Q9UBX0

Explore proteomics data for HESX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBX0

  • HESX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HESX1 Protein Expression
    REFSEQ proteins: NP_003856.1  
    ENSEMBL proteins: 
     ENSP00000295934   ENSP00000418918   ENSP00000419615  

    Human Recombinant Protein Products for HESX1: 
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    OriGene Custom Protein Services for HESX1
    GenScript Custom Purified and Recombinant Proteins Services for HESX1
    Novus Biologicals HESX1 Proteins
    Novus Biologicals HESX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HESX1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    HESX1 for ontologies           About GeneDecksing



    HESX1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for HESX1 
    Cloud-Clone Corp. CLIAs for HESX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PRD: Homeoboxes / PRD class

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UBX0

    ProtoNet protein and cluster: Q9UBX0

    UniProtKB/Swiss-Prot: HESX1_HUMAN, Q9UBX0
    Similarity: Belongs to the ANF homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    HESX1 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: HESX1_HUMAN, Q9UBX0
    Function: Required for the normal development of the forebrain, eyes and other anterior structures such as the
    olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII
    sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and,
    in vitro, HESX1 can antagonize PROP1 activation (By similarity)

         Genatlas biochemistry entry for HESX1:
    Hes,murine embryonic stem cells homolog,homeo domain encoding gene,expressed at the anterior extreme of the
    rostral neural fold

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9620767
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0008022protein C-terminus binding IEA--
         
    HESX1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hesx1):
     craniofacial  embryogenesis  endocrine/exocrine gland  hearing/vestibular/ear  mortality/aging 
     nervous system  normal  respiratory system  taste/olfaction  vision/eye 

    HESX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hesx1tm1Icar for HESX1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HESX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HESX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HESX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HESX1 

    miRNA
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    Inhib. RNA
    Products:
        
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HESX1
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                         Customized lentivirus expression plasmids for stable overexpression of HESX1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HESX1


    (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

    SuperPaths for HESX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HESX1
        Transcriptional Regulatory Network in Embryonic Stem Cell


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HESX1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for HESX1 (Q9UBX03 ENSP000002959344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PROP1O753603, ENSP000003112904I2D: score=1 STRING: ENSP00000311290
    NCOR1O753763, ENSP000002687124I2D: score=2 STRING: ENSP00000268712
    NPAS2Q997433, ENSP000003382834I2D: score=1 STRING: ENSP00000338283
    TLE1ENSP000003656824STRING: ENSP00000365682
    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:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007420brain development TAS9620767
    GO:0030916otic vesicle formation IEA--
    GO:0043584nose development IEA--

    HESX1 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

    HESX1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HESX1

    2 Novoseek inferred chemical compound relationships for HESX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 63.3 4 17201807 (1), 12519827 (1), 18852528 (1), 18493131 (1)
    gnrh 10.9 1 12536356 (1)

    Search CenterWatch for drugs/clinical trials and news about HESX1

    (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 HESX1 gene: 
    NM_003865.2  

    Unigene Cluster for HESX1:

    HESX homeobox 1
    Hs.171980  [show with all ESTs]
    Unigene Representative Sequence: NM_003865
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295934(uc003din.4) ENST00000473921 ENST00000495160
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HESX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HESX1
    Clone
    Products:
         
    OriGene clones in human, mouse for HESX1 (see all 6)
    OriGene ORF clones in mouse, rat for HESX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HESX1 (NM_003865)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HESX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HESX1
    Sirion Biotech Customized lentivirus for stable overexpression of HESX1 
                         Customized lentivirus expression plasmids for stable overexpression of HESX1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HESX1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HESX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HESX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HESX1

    Additional mRNA sequence: 

    BC069515.1 BC093979.1 BC112089.1 

    3 DOTS entries:

    DT.86746317  DT.40115239  DT.97817361 

    17 AceView cDNA sequences:

    BC069515 NM_003865 BQ016952 AA151708 AA151810 BI771078 BE884347 BI771671 
    AI650697 AI652412 BF001626 AW612230 AI783921 U82811 AI783922 BX090732 
    AI762585 

    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™, 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

    HESX1 expression in normal human tissues (normalized intensities)      HESX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACATATTT
    HESX1 Expression
    About this image


    HESX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/39 selected tissues (see all 39) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             XY Germ Cells Testis Cord
             seminal vesicle ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Line H9 (WA09)
             ESI-017   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...

    See HESX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HESX1

    SOURCE GeneReport for Unigene cluster: Hs.171980
        SABiosciences Expression via Pathway-Focused PCR Array including HESX1: 
              Homeobox (HOX) Genes in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HESX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HESX1

    (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 HESX1 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 Hesx11 , 5 homeobox gene expressed in ES cells1, 5 82.7(n)1
    80.54(a)1
      14 (16.09 cM)5
    152091  NM_010420.21  NP_034550.21 
     270003625 
    chicken
    (Gallus gallus)
    Aves HESX11 HESX homeobox 1 70.24(n)
    66.1(a)
      395864  NM_205012.1  NP_990343.1 
    lizard
    (Anolis carolinensis)
    Reptilia HESX16
    Uncharacterized protein
    78(a)
    1 ↔ 1
    2(163027875-163031364)
    African clawed frog
    (Xenopus laevis)
    Amphibia XANF-12 XANF-1 protein 75.3(n)    X60099.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_131349.12   -- 74.19(n)   30620  NM_131349.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-546
    Protein CEH-54
    17(a)
    1 ↔ 1
    X(6191590-6192948)


    ENSEMBL Gene Tree for HESX1 (if available)
    TreeFam Gene Tree for HESX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HESX1 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  RHOXF22  PITX22  VSX22  
    RHOXF12  PITX32  DMBX12  ESX12  GSC22  OTX12  CRX2  RHOXF2B2  
    2 SIMAP similar genes for HESX1 using alignment to 3 protein entries:     HESX1_HUMAN (see all proteins):
    GSC    POU6F1

    HESX1 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

    10/134 SNPs in HESX1 are shown (see all 134)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632334
    Septooptic dysplasia (SOD)4--see VAR_0632332 S L mis40--------
    VAR_0632314
    Pituitary hormone deficiency, combined, 5 (CPHD5)4--see VAR_0632312 I T mis40--------
    VAR_0632304
    Pituitary hormone deficiency, combined, 5 (CPHD5)4--see VAR_0632302 Q H mis40--------
    VAR_0632344
    Growth hormone deficiency with pituitary anomalies (GHDPA)4--see VAR_0632342 T A mis40--------
    VAR_0632324
    Growth hormone deficiency with pituitary anomalies (GHDPA)4--see VAR_0632322 E K mis40--------
    rs289367021,2,4
    CSeptooptic dysplasia (SOD)4 pathogenic157166018(-) ATCGGC/TGTGCA 2 R C mis10--------
    rs289367041,2
    Cpathogenic157165955(-) TCAACA/GCAAAT 2 T A mis10--------
    rs289367031,2
    Cpathogenic157165987(-) AGAATC/TACAGT 2 S L mis1 ese30--------
    rs1048937421,2
    Cpathogenic157166146(-) TAGAGA/GAAGAC 2 K E mis10--------
    rs289364161,2
    Cpathogenic157167583(-) GAGAAC/TCTTAG 2 T I mis1 ese30--------

    HapMap Linkage Disequilibrium report for HESX1 (57231944 - 57260549 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HESX1: --

    Human Gene Mutation Database (HGMD): HESX1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HESX1
    DNA2.0 Custom Variant and Variant Library Synthesis for HESX1

    (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: 601802   
    OMIM disorders: 182230  
    UniProtKB/Swiss-Prot: HESX1_HUMAN, Q9UBX0
  • Septooptic dysplasia (SOD) [MIM:182230]: A clinically heterogeneous disorder defined by any combination
    of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the
    brain, including absence of the corpus callosum and septum pellucidum. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]: A disease characterized by low
    or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent
    posterior pituitary lobe. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]: Combined pituitary hormone deficiency is
    defined as the impaired production of growth hormone and one or more of the other five anterior pituitary
    hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating
    hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/30 diseases for HESX1 (see all 30):    About MalaCards
    septo-optic dysplasia    pituitary stalk interruption syndrome    hesx1-related combined pituitary hormone deficiency    growth hormone deficiency with pituitary anomalies
    hypopituitarism    panhypopituitarism    pituitary hypoplasia    growth hormone deficiency
    borjeson-forssman-lehmann syndrome    schizencephaly    combined pituitary hormone deficiency    periventricular heterotopia
    optic nerve hypoplasia    acth deficiency    isolated growth hormone deficiency    craniopharyngioma
    autosomal recessive disease    kallmann syndrome    short stature    hypogonadotropism

    3 diseases from the University of Copenhagen DISEASES database for HESX1:
    Hypopituitarism     Pituitary hypoplasia     Holoprosencephaly

    HESX1 for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for HESX1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    septo-optic dysplasia 96.4 16 18852528 (2), 19844116 (2), 10626545 (2), 15670191 (2) (see all 12)
    panhypopituitarism 93.3 12 12519827 (2), 15670191 (2), 12173688 (1), 14646405 (1) (see all 10)
    de morsier syndrome 88.2 4 14557462 (2), 16735499 (1), 17148560 (1)
    hypopituitarism 85.5 23 17201807 (4), 18852528 (4), 17148560 (4), 14557462 (2) (see all 10)
    anophthalmia 84.2 2 18628516 (1), 10626545 (1)
    hormone deficiency 81.6 2 15841484 (1), 20181723 (1)
    acth deficiency 80.9 3 17201807 (1), 12519827 (1), 18852528 (1)
    growth hormone deficiency 69.4 2 18628516 (1), 11136712 (1)
    hypoplasia 67.8 7 11136712 (3), 12519827 (2), 19093031 (1), 17148560 (1)
    kallmann syndrome 59.8 1 12536356 (1)

    Genetic Association Database (GAD): HESX1
    Human Genome Epidemiology (HuGE) Navigator: HESX1 (3 documents)

    Export disorders for HESX1 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 HESX1 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with HESX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (PubMed id 11136712)1, 2, 4, 9 Thomas P.Q....Beddington R.S. (2001)
    2. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. (PubMed id 17148560)1, 2, 4, 9 McNay D.E....Dattani M.T. (2007)
    3. Mutations in the homeobox gene HESX1/Hesx1 associated with septo- optic dysplasia in human and mouse. (PubMed id 9620767)1, 2, 3, 9 Dattani M.T.... Robinson I.C.A.F. (1998)
    4. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. (PubMed id 14561704)1, 2, 4 Carvalho L.R....Dattani M.T. (2003)
    5. Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis. (PubMed id 11731482)1, 2, 9 Dasen J.S.... Rosenfeld M.G. (2001)
    6. 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)
    7. Role of conserved salt bridges in homeodomain stability and DNA binding. (PubMed id 19561080)1, 2 Torrado M....Asensio J.L. (2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Anf: a novel class of vertebrate homeobox genes expressed at the anterior end of the main embryonic axis. (PubMed id 9373136)1, 2 Kazanskaya O.V....Zaraisky A.G. (1997)
    10. Sequence, genomic organization, and expression of the novel homeobox gene Hesx1. (PubMed id 7876132)1, 3 Thomas P.Q....Rathjen P.D. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8820 HGNC: 4877 AceView: HESX1 Ensembl:ENSG00000163666 euGenes: HUgn8820
    ECgene: HESX1 H-InvDB: HESX1

    (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 HESX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HESX1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HESX1 gene:
    Search GeneIP for patents involving HESX1

    GeneCards and IP:
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