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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 diffe... See more...
Aliases for NHS Gene
Aliases for NHS Gene
External Ids for NHS Gene
- HGNC: 7820
- Entrez Gene: 4810
- Ensembl: ENSG00000188158
- OMIM: 300457
- UniProtKB: Q6T4R5
Previous GeneCards Identifiers for NHS Gene
- GC0XU990167
- GC0XP016754
- GC0XP017153
- GC0XP017303
- GC0XP015153
Summaries 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 Summary 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.
Additional gene information for NHS Gene
- HGNC(7820)
- Entrez Gene(4810)
- Ensembl(ENSG00000188158)
- OMIM(300457)
- UniProtKB(Q6T4R5)
- Open Targets Platform(ENSG00000188158)
- Monarch Initiative
- Search for NHS at DataMed
- Search for NHS at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NHS Gene
Genomics for NHS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NHS Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
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 CraniofacialAtlas | 603 | +1.3 | 1301 | 4.2 | CTCF PRDM10 ZNF629 ZNF692 ZIC2 PATZ1 ZNF600 CEBPB ZBTB20 SP1 | NHS piR-50443-399 SCML1 | |
| GH0XJ017373 | Enhancer | 0.2 | Ensembl | 600.7 | -1.7 | -1699 | 0.2 | NHS ENSG00000238764 REPS2 | ||
| GH0XJ017527 | Promoter/Enhancer | 0.8 | Ensembl ENCODE CraniofacialAtlas | 32.4 | +152.5 | 152483 | 1.3 | SPI1 POLR2A | LOC101928389 NHS HSALNG0136854 SCML1 | |
| GH0XJ016770 | Enhancer | 1 | ENCODE | 13.8 | -603.3 | -603313 | 2.3 | ARHGAP35 HNRNPL PRDM10 ZNF629 RFX1 SOX13 POLR2A JUND DDX20 MTA2 | lnc-CTPS2-8 RBBP7 NHS CTPS2 TXLNG SYAP1 | |
| GH0XJ017412 | Enhancer | 0.9 | ENCODE | 16.5 | +39.3 | 39282 | 4.5 | PRDM10 ZNF629 RFX1 ZNF692 PRDM1 ZSCAN4 PATZ1 IKZF2 ZNF148 CEBPB | RAI2 NHS CTPS2 TXLNG SCML1 RBBP7 RF00017-8185 piR-43105-686 |
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NHS
- Top Transcription factor binding sites by QIAGEN in the NHS gene promoter:
-
- Brachyury
- FOXD1
- FOXD3
- Gfi-1
- NF-1
- Nkx2-5
- p53
- POU2F1
- POU2F1a
- Sox9
Genomic Locations for NHS Gene
Genomic Locations for NHS Gene
- chrX:17,375,200-17,735,994
- (GRCh38/hg38)
- Size:
- 360,795 bases
- Orientation:
- Plus strand
- chrX:17,393,543-17,754,114
- (GRCh37/hg19)
- Size:
- 360,572 bases
- Orientation:
- Plus strand
Genomic View for NHS Gene
Genes around NHS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2-p22.13 by HGNC
- Xp22.2-p22.13 by Entrez Gene
- Xp22.2 by Ensembl
NHS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for NHS Gene
Post-translational modifications for NHS Gene
Other Protein References for NHS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-NHS (aa 1139-1281) polyclonal antibody
- Creative Biolabs Mouse Anti-NHS Recombinant Antibody (6D9)
- Novus Biologicals Antibodies for NHS
- Invitrogen Antibodies for NHS (AFLGC-NHS)
- antibodies-online: Show 9 available Nhs Antibodies ranked by validation data
- Compare Top Nhs Antibodies
-
Quality Products:
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for NHS
- Origene Custom Protein Services for NHS
- Novus Biologicals proteins for NHS
- antibodies-online: Search results for available Nhs related products ranked by validation data
No data available for DME Specific Peptides for NHS Gene
Domains & Families for NHS Gene
Gene Families for NHS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for NHS Gene
- GenScript: Design optimal peptide antigens:
-
- NHS protein (B7ZVX8_HUMAN)
- Nance-Horan syndrome protein isoform A (E2DH69_HUMAN)
- Congenital cataracts and dental anomalies protein (NHS_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6T4R5- Family:
-
- Belongs to the NHS family.
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
Phenotypes for NHS Gene
- MGI mutant phenotypes for NHS:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for NHS:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NHS - Select products 50% OFF >
- * NHS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NHS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NHS
-
Santa Cruz Biotechnology (SCBT) CRISPR for NHS
miRNA for NHS Gene
- miRTarBase miRNAs that target NHS
-
- hsa-miR-548n (MIRT229478)
- hsa-miR-548t-5p (MIRT229479)
- hsa-miR-548az-5p (MIRT229483)
- hsa-miR-590-3p (MIRT326891)
- hsa-miR-4775 (MIRT326893)
- hsa-miR-4477a (MIRT443184)
- hsa-miR-9-3p (MIRT443185)
- hsa-miR-153-5p (MIRT443186)
- hsa-miR-4760-3p (MIRT443187)
- hsa-miR-4503 (MIRT501264)
- hsa-miR-6792-5p (MIRT501265)
- hsa-miR-4284 (MIRT501266)
- hsa-miR-3159 (MIRT501267)
- hsa-miR-6510-5p (MIRT501268)
- hsa-miR-4690-5p (MIRT501269)
- hsa-miR-6165 (MIRT501270)
- hsa-miR-5197-5p (MIRT501271)
- hsa-miR-24-3p (MIRT501272)
- hsa-miR-135b-5p (MIRT503996)
- hsa-miR-135a-5p (MIRT503997)
- hsa-miR-889-5p (MIRT503998)
- hsa-miR-8076 (MIRT503999)
- hsa-miR-32-3p (MIRT504000)
- hsa-miR-651-3p (MIRT504001)
- hsa-miR-5692a (MIRT504002)
- hsa-miR-3909 (MIRT546534)
- hsa-miR-6852-3p (MIRT546535)
- hsa-miR-520f-5p (MIRT546536)
- hsa-miR-382-5p (MIRT546537)
- hsa-miR-495-5p (MIRT546538)
- hsa-miR-4470 (MIRT565852)
- hsa-miR-580-5p (MIRT565853)
- hsa-miR-607 (MIRT565854)
- hsa-miR-147a (MIRT565855)
- hsa-miR-6818-5p (MIRT565856)
- hsa-miR-1257 (MIRT565857)
- hsa-miR-3671 (MIRT565858)
- hsa-miR-580-3p (MIRT565859)
- hsa-miR-3163 (MIRT565860)
- hsa-miR-8084 (MIRT565861)
- hsa-miR-4652-3p (MIRT565862)
- hsa-miR-578 (MIRT565863)
- hsa-miR-4743-3p (MIRT565864)
- hsa-miR-4666b (MIRT565865)
- hsa-miR-5011-3p (MIRT565866)
- hsa-miR-6797-3p (MIRT565867)
- hsa-miR-6076 (MIRT565868)
- hsa-miR-5692c (MIRT565869)
- hsa-miR-5692b (MIRT565870)
- hsa-miR-369-3p (MIRT565871)
- hsa-miR-338-5p (MIRT565872)
- hsa-miR-1277-5p (MIRT565873)
- hsa-miR-559 (MIRT565874)
- hsa-miR-548y (MIRT565875)
- hsa-miR-548w (MIRT565876)
- hsa-miR-548o-5p (MIRT565877)
- hsa-miR-548j-5p (MIRT565878)
- hsa-miR-548h-5p (MIRT565879)
- hsa-miR-548i (MIRT565880)
- hsa-miR-548d-5p (MIRT565881)
- hsa-miR-548c-5p (MIRT565882)
- hsa-miR-548bb-5p (MIRT565883)
- hsa-miR-548b-5p (MIRT565884)
- hsa-miR-548ay-5p (MIRT565885)
- hsa-miR-548au-5p (MIRT565886)
- hsa-miR-548as-5p (MIRT565887)
- hsa-miR-548aq-5p (MIRT565888)
- hsa-miR-548ar-5p (MIRT565889)
- hsa-miR-548ap-5p (MIRT565890)
- hsa-miR-548am-5p (MIRT565891)
- hsa-miR-548ak (MIRT565892)
- hsa-miR-548ae-5p (MIRT565893)
- hsa-miR-548ad-5p (MIRT565894)
- hsa-miR-548ab (MIRT565895)
- hsa-miR-7161-5p (MIRT565896)
- hsa-miR-548a-5p (MIRT565897)
- hsa-miR-548u (MIRT565898)
- hsa-miR-494-3p (MIRT571665)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NHS
- Browse OriGene Inhibitory RNA Products For NHS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NHS
Clone Products
- Applied Biological Materials (abm): Clones for NHS - Select products 50% OFF >
- * NHS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NHS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NHS
Cell Line Products
-
Horizon Cell Lines for NHS
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| golgi apparatus | 4 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cell Junctions (3)
| 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 | -- |
Pathways & Interactions for NHS Gene
Interacting Proteins for NHS Gene
GPS-Prot Interaction Network for NHS
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002088 | lens development in camera-type eye | IBA | 21873635 |
| GO:0030154 | cell differentiation | IBA | 21873635 |
No data available for Pathways by source for NHS Gene
Transcripts for NHS Gene
mRNA/cDNA for NHS Gene
- 4 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380060 8761 nts (view in UCSC)
- ENST00000398097 8213 nts (view in UCSC)
- ENST00000485305 409 nts (view in UCSC)
- ENST00000615422 8860 nts (view in UCSC)
- ENST00000617601 8163 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NHS - Select products 50% OFF >
- * NHS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NHS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NHS
-
Santa Cruz Biotechnology (SCBT) CRISPR for NHS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NHS
- Browse OriGene Inhibitory RNA Products For NHS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NHS
Clone Products
- Applied Biological Materials (abm): Clones for NHS - Select products 50% OFF >
- * NHS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NHS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NHS
| 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
Expression 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NHS
SOURCE GeneReport for Unigene cluster for NHS Gene:
Hs.201623mRNA 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.
Evidence on tissue expression from TISSUES for NHS Gene
- Skin(2.8)
- Nervous system(2.4)
- Kidney(2.1)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NHS Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
- tooth
Limb:
- digit
- finger
- hand
- upper limb
General:
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for NHS
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NHS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NHS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NHS 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nhs 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nhs 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | NHS 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NHS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NHS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NHS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498628 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nhsa 30 31 |
|
OneToMany | |
| NHS (2 of 2) 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9179 30 |
|
- Species where no ortholog for NHS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for NHS: view image
Paralogs for NHS Gene
Variants for NHS Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NHS Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 651020 | Pathogenic: Nance-Horan syndrome | 17,727,763(+) | AAACTC/A | FRAMESHIFT_VARIANT | |
| 697982 | Benign: not provided | 17,687,864(+) | G/A | MISSENSE_VARIANT | |
| 707636 | Benign: not provided | 17,728,274(+) | G/A | MISSENSE_VARIANT | |
| 710632 | Benign: Nance-Horan syndrome | 17,731,944(+) | G/A | MISSENSE_VARIANT | |
| 714438 | Benign: not provided | 17,375,961(+) | A/G | SYNONYMOUS_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHS Gene
Disorders for NHS Gene
(20) MalaCards diseases for NHS Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nance-horan syndrome |
|
|
| cataract 40 |
|
|
| syndromic x-linked intellectual disability |
|
|
| early-onset nuclear cataract |
|
|
| colobomatous microphthalmia |
|
|
Search NHS in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for NHS
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for NHS Gene
Publications for NHS Gene
- 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
- Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (PMID: 16675532) Sharma S … Craig JE (Human molecular genetics 2006) 3 4 23
- 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 41
- X-linked cataract and Nance-Horan syndrome are allelic disorders. (PMID: 19414485) Coccia M … Hardcastle AJ (Human molecular genetics 2009) 3 4
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
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