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Aliases for NHS Gene

Aliases for NHS Gene

  • Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies) 2 3
  • Congenital Cataracts And Dental Anomalies Protein 3 4
  • CTRCT40 3 6
  • CXN 3 6
  • Nance-Horan Syndrome Protein 3
  • SCML1 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 (Nance-Horan Syndrome (Congenital Cataracts And Dental Anomalies)) 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NHS Gene

Start:
17,375,234 bp from pter
End:
17,735,994 bp from pter
Size:
360,761 bases
Orientation:
Plus strand

Genomic View for NHS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NHS Gene at MOPED

Post-translational modifications for NHS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NHS Gene

No data available for DME Specific Peptides for NHS Gene

Domains 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 :
  • Q6T4R5
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.

Phenotypes for NHS Gene

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

Animal Model Products

CRISPR Products

miRNA for NHS Gene

miRTarBase miRNAs that target NHS

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NHS

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for NHS Gene COMPARTMENTS Subcellular localization image for NHS gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 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 --
GO:0005923 bicellular tight junction IEA --
GO:0005925 focal adhesion IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with NHS: view

Pathways for NHS Gene

SuperPathways for NHS Gene

No Data Available

Interacting Proteins for NHS Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000369400%0d%0a9606.ENSP00000296255%0d%0a9606.ENSP00000003084%0d%0a
Selected Interacting proteins: ENSP00000369400 for NHS Gene via STRING

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 for NHS Gene

Transcripts for NHS Gene

Unigene Clusters for NHS Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NHS

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NHS

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 for NHS Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NHS Gene

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 expressions with NHS: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.7 (n)
  • 99.51 (a)
NHS 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NHS 35
  • 88.81 (n)
  • 89.8 (a)
NHS 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NHS 35
  • 90.16 (n)
  • 90.84 (a)
NHS 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nhs 35
  • 87.14 (n)
  • 88.85 (a)
Nhs 16
Nhs 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NHS 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NHS 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nhs 35
  • 87.12 (n)
  • 88.35 (a)
chicken
(Gallus gallus)
Aves NHS 35
  • 73.4 (n)
  • 74.98 (a)
NHS 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NHS 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498628 35
  • 69.05 (n)
  • 67.17 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9179 35
zebrafish
(Danio rerio)
Actinopterygii NHS (2 of 2) 36
  • 48 (a)
OneToMany
nhsa 35
  • 63.8 (n)
  • 62.07 (a)
nhsa 36
  • 50 (a)
OneToMany
Species with no ortholog for NHS:
  • 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 MAF
rs728454 -- 17,511,962(-) cccag(C/T)tgaga intron-variant
rs916313 -- 17,511,209(+) TATAA(A/G)CCACT intron-variant
rs975117 -- 17,720,981(-) ATCAC(A/C)TGAAG intron-variant
rs978158 -- 17,659,683(-) CATAC(A/T)TGGAT intron-variant
rs978159 -- 17,659,479(-) AAGTT(A/C)TCTAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv503n21 CNV Gain 19592680
nsv7438 OTHER Inversion 18451855
nsv6818 CNV Loss 18451855
nsv525786 CNV Gain 19592680
esv2739992 CNV Deletion 23290073
esv2739993 CNV Deletion 23290073
esv1495197 CNV Deletion 17803354
esv2739994 CNV Deletion 23290073
esv4497 CNV Deletion 18987735
esv2739996 CNV Deletion 23290073
esv1528723 CNV Deletion 17803354
esv8205 CNV Loss 19470904
esv2677709 CNV Deletion 23128226
esv23458 CNV Loss 19812545
esv989786 CNV Insertion 20482838

Relevant External Links for NHS Gene

HapMap Linkage Disequilibrium report
NHS
Human Gene Mutation Database (HGMD)
NHS
Locus Specific Mutation Databases (LSDB)
NHS

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

Disorders for NHS Gene

(2) OMIM Diseases for NHS Gene (300457)

UniProtKB/Swiss-Prot

NHS_HUMAN
  • 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.
  • 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.

(2) University of Copenhagen DISEASES for NHS Gene

(3) Novoseek inferred disease relationships for NHS Gene

Disease -log(P) Hits PubMed IDs
nance-horan syndrome 98.7 4
congenital cataract 88.2 1
cataract 51.6 2

Relevant External Links for NHS

Genetic Association Database (GAD)
NHS
Human Genome Epidemiology (HuGE) Navigator
NHS
genes like me logo Genes that share disorders with NHS: view

Publications for NHS Gene

  1. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (PMID: 16675532) Sharma S. … Craig J.E. (Hum. Mol. Genet. 2006) 3 4 23
  2. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. (PMID: 12173028) Toutain A. … Franco B. (Eur. J. Hum. Genet. 2002) 3 23
  3. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. (PMID: 15623749) Ramprasad V.L. … Kumaramanickavel G. (Invest. Ophthalmol. Vis. Sci. 2005) 3 23
  4. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (PMID: 14564667) Burdon K.P. … Craig J.E. (Am. J. Hum. Genet. 2003) 3 4
  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

Products for NHS Gene

Sources for NHS Gene

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