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HESX1 Gene

protein-coding   GIFtS: 51
GCID: GC03M057207

HESX Homeobox 1

(Previous names: homeobox, ES cell expressed 1)
  See HESX1-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pituitary hormone deficiency, combined, 5, 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for HESX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: 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
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


See HESX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_003856.1  
ENSEMBL proteins: 
 ENSP00000295934   ENSP00000418918   ENSP00000419615  

HESX1 Human Recombinant Protein Products:

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Novus Biologicals HESX1 Lysates
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Cloud-Clone Corp. Proteins for HESX1

 
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antibodies-online proteins for HESX1 (10 products) 

 
Search antibodies-online for peptides for HESX1

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antibodies-online antibodies for HESX1 (27 products) 

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antibodies-online kits for HESX1 (6 products) 


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

3 InterPro protein domains:
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 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


Find genes that share domains with HESX1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (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--
     
Find genes that share ontologies with HESX1           About GenesLikeMe


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 

Find genes that share phenotypes with HESX1           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Hesx1tm1Icar for HESX1

   genOway: Develop your customized and physiologically relevant rodent model for HESX1

miRNA
Products:
    
miRTarBase miRNAs that target HESX1:
hsa-mir-192-5p (MIRT026712), hsa-mir-215-5p (MIRT024293)

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Predesigned siRNA for gene silencing in human, mouse, rat HESX1

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GenScript: all cDNA clones in your preferred vector: HESX1 (NM_003865)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HESX1

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


(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
HESX1_HUMAN, Q9UBX0: Nucleus (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4

Gene Ontology (GO): 1 cellular component term:    About this table

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

Find genes that share ontologies with HESX1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for 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 GeneGlobe Pathway Central Maps for HESX1
    Transcriptional Regulatory Network in Embryonic Stem Cell


    Pathway & Disease-focused RT2 Profiler PCR Array including HESX1: 
          Homeobox (HOX) Genes in human mouse rat

Interactions:

    GeneGlobe Interaction Network for HESX1

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

Selected Interacting proteins for HESX1 (Q9UBX01, 3 ENSP000002959344) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
PROP1O753603, ENSP000003112904I2D: score=1 STRING: ENSP00000311290
NCOR1O753763, ENSP000002687124I2D: score=2 STRING: ENSP00000268712
NPAS2Q997433, ENSP000003382834I2D: score=1 STRING: ENSP00000338283
KDM1AO603411EBI-8470369,EBI-710124
PRMT6Q96LA81EBI-8470369,EBI-912440
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Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0007420brain development TAS9620767
GO:0030916otic vesicle formation IEA--
GO:0043584nose development IEA--

Find genes that share ontologies with HESX1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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)



Find genes that share compounds with HESX1           About GenesLikeMe



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for 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
Products:
     
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Search for qRT-PCR Assays for microRNAs that regulate HESX1
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for HESX1
Predesigned siRNA for gene silencing in human, mouse, rat HESX1
Clone
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OriGene clones in human, mouse for HESX1 (see all 5)
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
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for HESX1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HESX1
  QuantiTect SYBR Green Assays in human, mouse, rat HESX1
  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:

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

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HESX1 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 15) fully expand
 
 Neural Ectoderm (Nervous System)
         Intraembryonic Neural Ectoderm Cells Neural Plate
 
 Endoderm (Gastrulation Derivatives)
         Definitive Endoderm Cells Definitive Endoderm
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Cerebral Cortex
         N2/LSB/S/F8-induced cells
 
 Heart (Cardiovascular System)    fully expand to see all 3 entries
         Cardiomyocyte progenitor cells
         Cardiomyocyte-like cells
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         XY Germ Cells Testis Cord
HESX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HESX1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.171980
    Pathway & Disease-focused RT2 Profiler PCR Array including HESX1: 
          Homeobox (HOX) Genes in human mouse rat

Primer
Products:
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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)
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This gene was present in the common ancestor of animals.

Orthologs for HESX1 gene from Selected species (see all 14)    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
HESX homeobox 1
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 
fruit fly
(Drosophila melanogaster)
Insecta OdsH6
Ods-site homeobox
12(a)
many ↔ many
X(17685083-17708021)
worm
(Caenorhabditis elegans)
Secernentea ceh-536
Protein CEH-53 (ceh-53) mRNA, complete cds
19(a)
1 ↔ 1
IV(3498218-3503912) WBGene00015651


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)
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Paralogs for HESX1 gene
GSC2  PITX12  OTX22  UNCX2  VSX12  PITX22  VSX22  PROP12  
PITX32  DMBX12  GSC22  CRX2  OTX12  MIXL12  
2 SIMAP similar genes for HESX1 using alignment to 3 protein entries:     HESX1_HUMAN (see all proteins):
GSC    POU6F1

Find genes that share paralogs with HESX1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HESX1 (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
----------
rs289367021,2,,4
CSeptooptic dysplasia (SOD)4 pathogenic157166018(-) ATCGGC/TGTGCA 2 R C mis10--------
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--------
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
Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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 diseases for HESX1:    
    About MalaCards
    pituitary hormone deficiency, combined, 5    pituitary stalk interruption syndrome    septo-optic dysplasia    pituitary hypoplasia
    hesx1-related combined pituitary hormone deficiency    growth hormone deficiency with pituitary anomalies    hypopituitarism    panhypopituitarism
    hypothyroidism due to deficient transcription factors involved in pituitary development or function    borjeson-forssman-lehmann syndrome    periventricular heterotopia    growth hormone deficiency
    combined pituitary hormone deficiency    optic nerve hypoplasia    schizencephaly    isolated growth hormone deficiency
    acth deficiency    kallmann syndrome    hypogonadotropic hypogonadism 8 with or without anosmia    short stature

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

    Find genes that share disorders with HESX1           About GenesLikeMe

    Selected 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)
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    PubMed articles for HESX1 gene, integrated from 10 sources (see all 82):
    (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. (Hum. Mol. Genet. 2001)
    2. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. (PubMed id 17148560)1, 2, 4, 9 McNay D.E.G.... Dattani M.T. (J. Clin. Endocrinol. Metab. 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. (Nat. Genet. 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. (J. Clin. Invest. 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. (Genes Dev. 2001)
    6. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. (PubMed id 20534763)1, 4 Dateki S....Ogata T. (J. Clin. Endocrinol. Metab. 2010)
    7. Role of conserved salt bridges in homeodomain stability and DNA binding. (PubMed id 19561080)1, 2 Torrado M....Asensio J.L. (J. Biol. Chem. 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. (Genome Res. 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. (Gene 1997)
    10. Sequence, genomic organization, and expression of the novel homeobox gene Hesx1. (PubMed id 7876132)1, 3 Thomas P.Q....Rathjen P.D. (J. Biol. Chem. 1995)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HESX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HESX1[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 HESX1 gene:
    Search GeneIP for patents involving HESX1

    GeneCards and IP:
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