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NHS Gene

protein-coding   GIFtS: 52
GCID: GC0XP017393

Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies)

  See NHS-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
Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies)1 2
Congenital Cataracts And Dental Anomalies Protein2 3
CTRCT402 5
CXN2 5
SCML12
Nance-Horan Syndrome Protein2

External Ids:    HGNC: 78201   Entrez Gene: 48102   Ensembl: ENSG000001881587   OMIM: 3004575   UniProtKB: Q6T4R53   

Export aliases for NHS gene to outside databases

Previous GC identifers: GC0XU990167 GC0XP016754 GC0XP017153 GC0XP017303 GC0XP015153


(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 NHS Gene:
This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may
function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause
Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described
for this gene. (provided by RefSeq, Oct 2008)

GeneCards Summary for NHS Gene:
NHS (Nance-Horan syndrome (congenital cataracts and dental anomalies)) is a protein-coding gene. Diseases associated with NHS include cataract 40, x-linked, and scleral staphyloma. An important paralog of this gene is NHSL2.

UniProtKB/Swiss-Prot: NHS_HUMAN, Q6T4R5
Function: May function in cell morphology by maintaining the integrity of the circumferential actin ring and
controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development

Gene Wiki entry for NHS 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_000023.10  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NHS gene promoter:
         NF-1   p53   Brachyury   FOXD1   FOXD3   Nkx2-5   Gfi-1   POU2F1   POU2F1a   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNHS promoter sequence
   Search Chromatin IP Primers for NHS

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


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

Entrez Gene cytogenetic band: Xp22.13   Ensembl cytogenetic band:  Xp22.13   HGNC cytogenetic band: Xp22.3-p21.1

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP017393:  view genomic region     (about GC identifiers)

Start:
17,393,543 bp from pter      End:
17,754,114 bp from pter
Size:
360,572 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, 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: NHS_HUMAN, Q6T4R5 (See protein sequence)
Recommended Name: Nance-Horan syndrome protein  
Size: 1651 amino acids; 179135 Da
Subunit: Interacts with the tight junction protein TJP1/ZO-1. Associates with actin-rich structures. Interacts
with BRK1 and with all three members of the WAVE protein family, WASF1, WASF2 and WASF3
Secondary accessions: B7ZVX8 E2DH69 Q5J7Q0 Q5J7Q1 Q68DR5
Alternative splicing: 4 isoforms:  Q6T4R5-1   Q6T4R5-2   Q6T4R5-3   Q6T4R5-4   

Explore the universe of human proteins at neXtProt for NHS: NX_Q6T4R5

Explore proteomics data for NHS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129496.1  NP_938011.1  

    ENSEMBL proteins: 
     ENSP00000369400   ENSP00000381170  

    NHS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NHS
    GenScript Custom Purified and Recombinant Proteins Services for NHS
    Novus Biologicals NHS Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NHS

     
    Search eBioscience for Proteins for NHS 

     
    antibodies-online proteins for NHS (2 products) 

     
    Search antibodies-online for peptides for NHS

    NHS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NHS
    Novus Biologicals NHS Antibodies
    Abcam antibodies for NHS
    Cloud-Clone Corp. Antibodies for NHS
    Search ThermoFisher Antibodies for NHS
    antibodies-online antibodies for NHS (2 products) 

    NHS Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NHS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NHS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NHS
    Cloud-Clone Corp. CLIAs for NHS
    Search eBioscience for ELISAs for NHS 
    antibodies-online kits for NHS (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR024845 NHS_fam

    Graphical View of Domain Structure for InterPro Entry Q6T4R5

    ProtoNet protein and cluster: Q6T4R5

    UniProtKB/Swiss-Prot: NHS_HUMAN, Q6T4R5
    Similarity: Belongs to the NHS family


    Find genes that share domains with NHS           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: NHS_HUMAN, Q6T4R5
    Function: May function in cell morphology by maintaining the integrity of the circumferential actin ring and
    controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development

    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nhs):

     no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with NHS           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NHS

    miRNA
    Products:
        
    miRTarBase miRNAs that target NHS:
    hsa-mir-24-3p (MIRT030379)

    Block miRNA regulation of human, mouse, rat NHS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NHS (see all 74):
    hsa-miR-582-3p hsa-miR-361-5p hsa-miR-300 hsa-miR-1914* hsa-miR-106a hsa-miR-134 hsa-miR-128 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidNHS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NHS
    Predesigned siRNA for gene silencing in human, mouse, rat NHS

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

    Clone
    Products:
         
    OriGene clones in human, mouse for NHS (see all 11)
    OriGene ORF clones in mouse, rat for NHS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NHS (NM_198270)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHS

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHS


    (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
    NHS_HUMAN, Q6T4R5: Isoform 1: Apical cell membrane; Peripheral membrane protein. Cell projection,
    lamellipodium. Cell junction, tight junction. Cell junction, focal adhesion. Note=Colocalizes with the tight
    junction protein TJP1 in epithelial cells. Localizes to the leading edge of lamellipodia in motile cells
    NHS_HUMAN, Q6T4R5: Isoform 3: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005923tight junction IEA--
    GO:0005925focal adhesion IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0030027lamellipodium IEA--

    Find genes that share ontologies with NHS           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NHS
    Interactions:

        Search GeneGlobe Interaction Network for NHS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for NHS (ENSP000003694004) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCRIBENSP000003494864STRING: ENSP00000349486
    DLG1ENSP000003457314STRING: ENSP00000345731
    DLG2ENSP000003652724STRING: ENSP00000365272
    INADLENSP000003602004STRING: ENSP00000360200
    MPDZENSP000003704104STRING: ENSP00000370410
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye IEA--
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with NHS           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 NHS



    (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 NHS gene (2 alternative transcripts): 
    NM_001136024.3  NM_198270.3  

    Unigene Cluster for NHS:

    Nance-Horan syndrome (congenital cataracts and dental anomalies)
    Hs.201623  [show with all ESTs]
    Unigene Representative Sequence: AY456993
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380060(uc004cxx.3 uc011mix.2) ENST00000398097(uc004cxy.3 uc004cxz.3 uc004cya.3)
    ENST00000485305
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NHS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NHS (see all 74):
    hsa-miR-582-3p hsa-miR-361-5p hsa-miR-300 hsa-miR-1914* hsa-miR-106a hsa-miR-134 hsa-miR-128 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidNHS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NHS
    Predesigned siRNA for gene silencing in human, mouse, rat NHS
    Clone
    Products:
         
    OriGene clones in human, mouse for NHS (see all 11)
    OriGene ORF clones in mouse, rat for NHS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NHS (NM_198270)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHS
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NHS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NHS
      QuantiTect SYBR Green Assays in human, mouse, rat NHS
      QuantiFast Probe-based Assays in human, mouse, rat NHS

    Additional mRNA sequence: 

    AK302437.1 AY436752.1 AY456992.1 AY456993.1 BC136415.1 BC171763.1 CR749300.1 CR936788.1 
    GQ988776.1 

    4 DOTS entries:

    DT.65285142  DT.91750232  DT.441600  DT.121278022 

    Selected AceView cDNA sequences (see all 56):

    AI261324 AI474795 AI038605 BM681121 AW291487 NM_198270 BQ017161 Z43577 
    BE552072 AW339250 CA313092 BI492669 Z39645 AY436752 AI521755 CR749300 
    AI758246 BM727694 AI377005 AA969113 AI018750 AI636293 BM670043 AI700573 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NHS    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12
    SP1:                          -                             -                                 
    SP2:                                                        -                                 
    SP3:        -     -     -     -                 -           -                                 
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for NHS

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

    NHS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NHS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.201623

    UniProtKB/Swiss-Prot: NHS_HUMAN, Q6T4R5
    Tissue specificity: Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens,
    retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium,
    placenta, lymphocytes, and fibroblasts are very low. Expressed also in kidney, lung and thymus

        Custom PCR Arrays for NHS
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NHS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NHS
    QuantiTect SYBR Green Assays in human, mouse, rat NHS
    QuantiFast Probe-based Assays in human, mouse, rat NHS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHS

    (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 chordates.

    Orthologs for NHS gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nhs1 , 5 Nance-Horan syndrome (human)1, 5 87.14(n)1
    88.85(a)1
      X (74.17 cM)5
    1957271  NM_001081052.11  NP_001074521.11 
     1618332965 
    chicken
    (Gallus gallus)
    Aves NHS1 Nance-Horan syndrome (congenital cataracts and dental more 73.4(n)
    74.98(a)
      418616  XM_416815.4  XP_416815.4 
    lizard
    (Anolis carolinensis)
    Reptilia NHS6
    Nance-Horan syndrome (congenital cataracts and den...
    68(a)
    1 ↔ 1
    3(122565890-122617973)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004986281 NHS-like protein 1-like 69.05(n)
    67.17(a)
      100498628  XM_002934358.2  XP_002934404.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nhsa1 Nance-Horan syndrome a (human) 63.8(n)
    62.07(a)
      100150332  XM_001919305.4  XP_001919340.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NHS gene
    NHSL22  NHSL12  

    Find genes that share paralogs with NHS           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 NHS (see all 4276)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362254
    A breast cancer sample4--see VAR_0362252 A T mis40--------
    rs1048948811,2
    Cpathogenic117307880(+) CCTTGC/TAGCCG 2 Q * stg10--------
    rs1122932691,2
    C--17305437(+) CAATAT/ATCTGA 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1931498021,2
    --17305742(+) CTCAAC/TGCTTT 1 -- us2k10--------
    rs1477193171,2
    --17305765(+) GATAAA/CAAACA 1 -- us2k10--------
    rs799559251,2
    C,F--17305859(+) GTACAG/ATGAAC 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs587742201,2
    C--17305963(+) TTCTTC/GTTGTT 1 -- us2k10--------
    rs1513183451,2
    --17305966(+) TTCTTC/GTTGTT 1 -- us2k10--------
    rs1857021101,2
    C--17306075(+) TTTTGG/TTTTTT 1 -- us2k10--------
    rs1134304121,2
    C--17306439(+) CAATCA/GAAAAT 1 -- us2k11Minor allele frequency- G:0.00CSA 1

    HapMap Linkage Disequilibrium report for NHS (17393543 - 17643543 bp, first 250kb of NHS)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NHS (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1495197CNV Deletion17803354
    esv2739992CNV Deletion23290073
    esv1528723CNV Deletion17803354
    esv2739994CNV Deletion23290073
    esv4497CNV Deletion18987735
    esv2677709CNV Deletion23128226
    esv2739993CNV Deletion23290073
    esv2739996CNV Deletion23290073
    esv989786CNV Insertion20482838
    esv8205CNV Loss19470904

    Human Gene Mutation Database (HGMD): NHS
    Locus Specific Mutation Databases (LSDB): NHS

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NHS
    DNA2.0 Custom Variant and Variant Library Synthesis for NHS

    (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: 300457   
    OMIM disorders: 302350  302200  
    UniProtKB/Swiss-Prot: NHS_HUMAN, Q6T4R5
  • Nance-Horan syndrome (NHS) [MIM:302350]: Rare X-linked disorder characterized by congenital cataracts,
    dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are
    seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial
    features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder
    variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental
    anomalies and the characteristic facial features described. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Cataract 40 (CTRCT40) [MIM:302200]: An opacification of the crystalline lens of the eye that frequently
    results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the
    lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual
    impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In
    some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism.
    Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
    Note=The disease is caused by mutations affecting the gene represented in this entry. Caused by copy number
    variations predicted to result in altered transcriptional regulation of the NHS gene: a 0.8 Mb segmental
    duplication-triplication encompassing the NHS, SCML1 and RAI2 genes, and an 4.8 kb intragenic deletion in NHS
    intron 1

  • 7 diseases for NHS:    
    About MalaCards
    cataract 40, x-linked    scleral staphyloma    nance-horan syndrome    cataract, congenital, with microcornea or slight microphthalmia
    decubitus ulcer    cataract 20, multiple types    cataract 4, multiple types

    2 diseases from the University of Copenhagen DISEASES database for NHS:
    Decubitus ulcer     Scleral staphyloma

    Find genes that share disorders with NHS           About GenesLikeMe

    3 Novoseek inferred disease relationships for NHS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nance-horan syndrome 98.7 5 16675532 (2), 17451191 (1), 15623749 (1)
    congenital cataract 88.2 1 16675532 (1)
    cataract 51.6 2 17451191 (1), 17256798 (1)

    Genetic Association Database (GAD): NHS
    Human Genome Epidemiology (HuGE) Navigator: NHS (161 documents)

    Export disorders for NHS 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 NHS gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with NHS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (PubMed id 16675532)1, 2, 9 Sharma S....Craig J.E. (Hum. Mol. Genet. 2006)
    2. The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. (PubMed id 20332100)1, 2 Brooks S.P.... Hardcastle A.J. (Hum. Mol. Genet. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. X-linked cataract and Nance-Horan syndrome are allelic disorders. (PubMed id 19414485)1, 2 Coccia M.... Hardcastle A.J. (Hum. Mol. Genet. 2009)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. Identification of the gene for Nance-Horan syndrome (NHS). (PubMed id 15466011)1, 2 Brooks S.P.... Hardcastle A.J. (J. Med. Genet. 2004)
    8. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (PubMed id 14564667)1, 2 Burdon K.P.... Craig J.E. (Am. J. Hum. Genet. 2003)
    9. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. (PubMed id 15623749)1, 9 Ramprasad V.L....Kumaramanickavel G. (amp 2005)
    10. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. (PubMed id 12173028)1, 9 Toutain A....Franco B. (Eur. J. Hum. Genet. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 4810 HGNC: 7820 AceView: NHS Ensembl:ENSG00000188158 euGenes: HUgn4810
    ECgene: NHS H-InvDB: NHS

    (According to HUGE)
    About This Section

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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 NHS Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for NHS gene:
    Search GeneIP for patents involving NHS

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Regulatory tfbs in NHS promoter
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     antibodies-online antibodies for NHS (2 products)
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     antibodies-online proteins for NHS (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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