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Aliases for NHS Gene

Aliases for NHS Gene

  • NHS Actin Remodeling Regulator 2 3 5
  • Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies) 2 3
  • Congenital Cataracts And Dental Anomalies Protein 3 4
  • Nance-Horan Syndrome Protein 3
  • CTRCT40 3
  • SCML1 3
  • CXN 3

External Ids for NHS Gene

Previous GeneCards Identifiers for NHS Gene

  • GC0XU990167
  • GC0XP016754
  • GC0XP017153
  • GC0XP017303
  • GC0XP015153

Summaries for NHS Gene

Entrez Gene Summary for NHS Gene

  • This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for NHS Gene

NHS (NHS Actin Remodeling Regulator) is a Protein Coding gene. Diseases associated with NHS include Nance-Horan Syndrome and Cataract 40, X-Linked. An important paralog of this gene is NHSL1.

UniProtKB/Swiss-Prot for NHS Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NHS Gene

Genomics for NHS Gene

Regulatory Elements for NHS Gene

Enhancers for NHS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF017526 1 Ensembl ENCODE 32.4 +152.8 152782 4.0 ZNF263 ZFP37 MAFG NR3C1 ZIC2 ZNF316 JUND MAFF ZNF366 GLIS1 NHS LOC101928389 NHS-AS1
GH0XF017404 0.7 ENCODE 17.3 +30.2 30179 2.8 JUN CEBPB USF2 EP300 BRCA1 RFX5 JUND STAT3 RCOR1 FOS NHS ENSG00000238764 MIR4768
GH0XF017290 0.6 ENCODE 12.6 -83.6 -83644 1.9 ZNF217 GATA3 ZNF687 CTBP1 DPF2 RAD21 NHS GC0XP017282 PIR59609
GH0XF017403 0.4 ENCODE 17.3 +28.2 28154 1.1 USF2 NHS ENSG00000238764 MIR4768
GH0XF017397 0.5 FANTOM5 12.9 +21.9 21867 0.1 JUND CEBPB NHS MIR4768
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NHS on UCSC Golden Path with GeneCards custom track

Promoters for NHS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000476038 880 3800 KLF17 SIN3A RAD21 GLIS2 EGR2 ZNF263 ELK4 SP3 CEBPB ZFP69B

Genomic Location for NHS Gene

Chromosome:
X
Start:
17,375,420 bp from pter
End:
17,735,994 bp from pter
Size:
360,575 bases
Orientation:
Plus strand

Genomic View for NHS Gene

Genes around NHS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NHS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHS Gene

Proteins for NHS Gene

  • Protein details for NHS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6T4R5-NHS_HUMAN
    Recommended name:
    Nance-Horan syndrome protein
    Protein Accession:
    Q6T4R5
    Secondary Accessions:
    • B7ZVX8
    • E2DH69
    • Q5J7Q0
    • Q5J7Q1
    • Q68DR5

    Protein attributes for NHS Gene

    Size:
    1651 amino acids
    Molecular mass:
    179135 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for NHS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NHS Gene

Post-translational modifications for NHS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NHS Gene

Domains & Families for NHS Gene

Protein Domains for NHS Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NHS Gene

Graphical View of Domain Structure for InterPro Entry

Q6T4R5

UniProtKB/Swiss-Prot:

NHS_HUMAN :
  • Belongs to the NHS family.
Family:
  • Belongs to the NHS family.
genes like me logo Genes that share domains with NHS: view

No data available for Gene Families for NHS Gene

Function for NHS Gene

Molecular function for NHS Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with NHS: view

Human Phenotype Ontology for NHS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NHS Gene

miRTarBase miRNAs that target NHS

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NHS Gene

Localization for NHS Gene

Subcellular locations from UniProtKB/Swiss-Prot for NHS Gene

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.
Isoform 3: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NHS gene
Compartment Confidence
plasma membrane 5
nucleus 5
golgi apparatus 4
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NHS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA --
GO:0005925 focal adhesion IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NHS: view

Pathways & Interactions for NHS Gene

No Data Available

Interacting Proteins for NHS Gene

Gene Ontology (GO) - Biological Process for NHS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with NHS: view

No data available for Pathways by source and SIGNOR curated interactions for NHS Gene

Drugs & Compounds for NHS Gene

(9) Drugs for NHS Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2231
Cariostatic Agents Pharma 318
Fluorides Pharma 438
Hypoglycemic Agents Pharma 5733
insulin Pharma 4524
genes like me logo Genes that share compounds with NHS: view

Transcripts for NHS Gene

Unigene Clusters for NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NHS Gene

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

Relevant External Links for NHS Gene

GeneLoc Exon Structure for
NHS
ECgene alternative splicing isoforms for
NHS

Expression for NHS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NHS Gene

Protein differential expression in normal tissues from HIPED for NHS Gene

This gene is overexpressed in Adipocyte (21.8), Adrenal (20.4), Testis (10.5), and Pancreatic juice (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NHS Gene



NURSA nuclear receptor signaling pathways regulating expression of NHS Gene:

NHS

SOURCE GeneReport for Unigene cluster for NHS Gene:

Hs.201623

mRNA Expression by UniProt/SwissProt for NHS Gene:

Q6T4R5-NHS_HUMAN
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.
genes like me logo Genes that share expression patterns with NHS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for NHS Gene

Orthologs for NHS Gene

This gene was present in the common ancestor of chordates.

Orthologs for NHS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHS 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia NHS 34 35
  • 90.16 (n)
cow
(Bos Taurus)
Mammalia NHS 34 35
  • 88.81 (n)
mouse
(Mus musculus)
Mammalia Nhs 34 16 35
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Nhs 34
  • 87.12 (n)
oppossum
(Monodelphis domestica)
Mammalia NHS 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NHS 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NHS 34 35
  • 73.4 (n)
lizard
(Anolis carolinensis)
Reptilia NHS 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498628 34
  • 69.05 (n)
zebrafish
(Danio rerio)
Actinopterygii nhsa 34 35
  • 63.8 (n)
NHS (2 of 2) 35
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9179 34
Species where no ortholog for NHS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NHS Gene

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

Paralogs for NHS Gene

Paralogs for NHS Gene

genes like me logo Genes that share paralogs with NHS: view

Variants for NHS Gene

Sequence variations from dbSNP and Humsavar for NHS Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036225 A breast cancer sample
rs104894881 Pathogenic 17,375,872(+) CCTTG(C/T)AGCCG reference, stop-gained
rs111534978 Pathogenic 17,727,793(+) CGCTG(C/T)GATCC reference, synonymous-codon
rs132630322 Pathogenic 17,724,370(+) GGAGA(C/T)GAAAA reference, stop-gained
rs398124608 Pathogenic 17,376,157(+) TGGCC(-/C)GTGTC reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for NHS Gene

Variant ID Type Subtype PubMed ID
dgv503n21 CNV gain 19592680
esv1495197 CNV deletion 17803354
esv1528723 CNV deletion 17803354
esv23458 CNV loss 19812545
esv2677709 CNV deletion 23128226
esv2739992 CNV deletion 23290073
esv2739993 CNV deletion 23290073
esv2739994 CNV deletion 23290073
esv2739996 CNV deletion 23290073
esv3014901 CNV deletion 24192839
esv3238173 CNV deletion 24192839
esv3558657 CNV deletion 23714750
esv3573614 CNV loss 25503493
esv3573615 CNV loss 25503493
esv3573616 CNV loss 25503493
esv3573617 CNV loss 25503493
esv3576788 CNV gain 25503493
esv3576789 CNV gain 25503493
esv4497 CNV loss 18987735
esv8205 CNV loss 19470904
esv989786 CNV insertion 20482838
nsv1141052 CNV deletion 24896259
nsv1141053 CNV deletion 24896259
nsv1145285 CNV deletion 24896259
nsv1149644 CNV deletion 26484159
nsv1153530 CNV deletion 26484159
nsv472245 CNV novel sequence insertion 20440878
nsv525786 CNV gain 19592680
nsv6818 CNV deletion 18451855
nsv7438 OTHER inversion 18451855
nsv957772 CNV deletion 24416366

Variation tolerance for NHS Gene

Residual Variation Intolerance Score: 92.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.35; 70.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NHS Gene

Human Gene Mutation Database (HGMD)
NHS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NHS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHS Gene

Disorders for NHS Gene

MalaCards: The human disease database

(16) MalaCards diseases for NHS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • cataract dental syndrome
cataract 40, x-linked
  • cataract 40
early-onset nuclear cataract
cataract, congenital, with microcornea or slight microphthalmia
  • cataract 40, x-linked
bartholin's gland adenoma
  • bartholin gland adenoma
- elite association - COSMIC cancer census association via MalaCards
Search NHS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NHS_HUMAN
  • 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. {ECO:0000269 PubMed:19414485}. 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.
  • 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. {ECO:0000269 PubMed:14564667, ECO:0000269 PubMed:15466011}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NHS

Genetic Association Database (GAD)
NHS
Human Genome Epidemiology (HuGE) Navigator
NHS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NHS
genes like me logo Genes that share disorders with NHS: view

No data available for Genatlas for NHS Gene

Publications for NHS Gene

  1. The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. (PMID: 20332100) Brooks S.P. … Hardcastle A.J. (Hum. Mol. Genet. 2010) 2 3 4 64
  2. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (PMID: 16675532) Sharma S. … Craig J.E. (Hum. Mol. Genet. 2006) 3 4 22 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. X-linked cataract and Nance-Horan syndrome are allelic disorders. (PMID: 19414485) Coccia M. … Hardcastle A.J. (Hum. Mol. Genet. 2009) 3 4 64
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64

Products for NHS Gene

Sources for NHS Gene

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