Free for academic non-profit institutions. Other users need a Commercial license

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. 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

Additional gene information for NHS Gene

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

Genomics for NHS Gene

GeneHancer (GH) Regulatory Elements for NHS Gene

Promoters and enhancers for NHS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ017374 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 653.1 +1.0 959 3.9 KLF17 SIN3A RAD21 ZNF335 GLIS2 EGR2 ELK4 SP3 CEBPB SP1 NHS MIR4768
GH0XJ017527 Enhancer 0.6 Ensembl ENCODE 32.4 +153.1 153081 3 POLR2A ZNF366 LOC101928389 NHS NHS-AS1
GH0XJ017412 Enhancer 1.1 Ensembl ENCODE 16.4 +39.1 39062 4.5 FEZF1 ATF7 FOS KLF13 ZNF662 TSHZ1 ZNF518A MYNN AEBP2 STAT3 RAI2 NHS CTPS2 TXLNG SCML1 RBBP7 MIR4768
GH0XJ016770 Enhancer 1.2 Ensembl ENCODE 13.8 -603.5 -603533 2.3 HNRNPUL1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF143 RBBP7 NHS CTPS2 TXLNG GC0XP016767
GH0XJ017404 Enhancer 0.7 ENCODE 17.3 +30.2 30178 2.8 JUN SIN3A BRCA1 RFX5 POLR2A RCOR1 FOSL2 FOS ZNF600 DEK NHS ENSG00000238764 MIR4768
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NHS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NHS gene promoter:
  • Sox9
  • Gfi-1
  • Nkx2-5
  • NF-1
  • FOXD3
  • FOXD1
  • p53
  • POU2F1a
  • POU2F1
  • Brachyury

Genomic Locations for NHS Gene

Genomic Locations for NHS Gene
360,575 bases
Plus strand
360,572 bases
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:
    Recommended name:
    Nance-Horan syndrome protein
    Protein Accession:
    Secondary Accessions:
    • B7ZVX8
    • E2DH69
    • Q5J7Q0
    • Q5J7Q1
    • Q68DR5

    Protein attributes for NHS Gene

    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


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

Gene Families for NHS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NHS Gene


Suggested Antigen Peptide Sequences for NHS Gene

Graphical View of Domain Structure for InterPro Entry



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

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 From GWAS Catalog for NHS Gene

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

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NHS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA --
GO:0005925 focal adhesion IEA --
genes like me logo Genes that share ontologies with NHS: view

Pathways & Interactions for NHS Gene

No Data Available

Gene Ontology (GO) - Biological Process for NHS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IBA --
GO:0030154 cell differentiation IBA --
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, Investigational Pharma 2430
Cariostatic Agents Pharma 368
Fluorides Pharma 520
Hypoglycemic Agents Pharma 6210
insulin Pharma 4893
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:

Clone 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: - - - - - -

Relevant External Links for NHS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NHS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, MaxQB, and MOPED for NHS Gene

NURSA nuclear receptor signaling pathways regulating expression of NHS Gene:


SOURCE GeneReport for Unigene cluster for NHS Gene:


mRNA Expression by UniProt/SwissProt for NHS Gene:

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for NHS Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
  • digit
  • finger
  • hand
  • upper limb
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with NHS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from 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
(Pan troglodytes)
Mammalia NHS 34 33
  • 99.7 (n)
(Canis familiaris)
Mammalia NHS 34 33
  • 90.16 (n)
(Bos Taurus)
Mammalia NHS 34 33
  • 88.81 (n)
(Mus musculus)
Mammalia Nhs 16 34 33
  • 87.14 (n)
(Rattus norvegicus)
Mammalia Nhs 33
  • 87.12 (n)
(Monodelphis domestica)
Mammalia NHS 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia NHS 34
  • 65 (a)
(Gallus gallus)
Aves NHS 34 33
  • 73.4 (n)
(Anolis carolinensis)
Reptilia NHS 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498628 33
  • 69.05 (n)
(Danio rerio)
Actinopterygii nhsa 34 33
  • 63.8 (n)
NHS (2 of 2) 34
  • 48 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9179 33
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

Gene Tree for NHS (if available)
Gene Tree for NHS (if available)
Evolutionary constrained regions (ECRs) for NHS: view image

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 Variation AA Info Type
rs104894881 pathogenic, Nance-Horan syndrome 17,375,872(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs10590816 conflicting-interpretations-of-pathogenicity, benign, not specified, Nance-Horan syndrome 17,375,962(+) CCGCCGCCGCCGCC/CCGCCGCCGCC coding_sequence_variant, genic_upstream_transcript_variant, inframe_deletion
rs111534978 pathogenic, Congenital cataract 17,727,793(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs132630322 pathogenic, Nance-Horan syndrome, not provided 17,724,370(+) C/T coding_sequence_variant, stop_gained
rs147497359 likely-benign, benign, not specified, Nance-Horan syndrome 17,692,444(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_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)

Additional Variant Information for NHS Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NHS Gene

MalaCards: The human disease database

(9) MalaCards diseases for NHS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • nhs
cataract 40
  • ctrct40
syndromic x-linked intellectual disability
  • syndromic intellectual disability, x-linked
early-onset nuclear cataract
  • cataracts
- elite association - COSMIC cancer census association via MalaCards
Search NHS in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for NHS

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SP … Hardcastle AJ (Human molecular genetics 2010) 2 3 4 58
  2. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (PMID: 16675532) Sharma S … Craig JE (Human molecular genetics 2006) 3 4 22 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. X-linked cataract and Nance-Horan syndrome are allelic disorders. (PMID: 19414485) Coccia M … Hardcastle AJ (Human molecular genetics 2009) 3 4 58
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58

Products for NHS Gene

Sources for NHS Gene

Loading form....