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    NHS NHS actin remodeling regulator [ Homo sapiens (human) ]

    Gene ID: 4810, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NHSprovided by HGNC
    Official Full Name
    NHS actin remodeling regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:7820
    See related
    Ensembl:ENSG00000188158 MIM:300457; AllianceGenome:HGNC:7820
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CXN; SCML1; CTRCT40
    Summary
    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]
    Expression
    Broad expression in endometrium (RPKM 2.8), kidney (RPKM 2.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NHS in Genome Data Viewer
    Location:
    Xp22.2-p22.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (17375200..17735994)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16957799..17318610)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (17393323..17754114)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chromobox 1 pseudogene 4 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:17403909-17404450 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:17427751-17428292 Neighboring gene microRNA 4768 Neighboring gene uncharacterized LOC101928389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:17565654-17566169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:17566170-17566684 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:17567200-17567713 Neighboring gene NHS antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:17645772-17646631 Neighboring gene uncharacterized LOC105373142 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:17653158-17653816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:17674013-17674724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:17674725-17675435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20684 Neighboring gene CHP1 pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:17767905-17769104 Neighboring gene Scm polycomb group protein like 1 Neighboring gene family with sequence similarity 136 member A pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. Ling C, et al. BMC Med Genet, 2019 Jan 14. PMID 30642278, Free PMC Article
    2. Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing. Hong N, et al. J Zhejiang Univ Sci B, 2014 Aug. PMID 25091991, Free PMC Article
    3. Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome. Li A, et al. Curr Eye Res, 2015 Apr. PMID 25266737
    4. Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. Sun W, et al. PLoS One, 2014. PMID 24968223, Free PMC Article
    5. A Turkish family with Nance-Horan Syndrome due to a novel mutation. Tug E, et al. Gene, 2013 Aug 1. PMID 23566852

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
      Title: Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
    2. Deleterious NHS mutations are associated with Nance Horan syndrome.
      Title: Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.
    3. Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations.
      Title: Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
    4. A novel small deletion in the NHS gene is associated with Nance-Horan syndrome in a Chinese pedigree.
      Title: A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
    5. Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with Nance-Horan syndromesyndrome and developmental delay.
      Title: A novel Xp22.13 microdeletion in Nance-Horan syndrome.
    6. This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling.
      Title: Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
    7. Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings.
      Title: NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.
    8. Results revealed a novel splice site mutation (NM_198270: c.1045 + 2T > A) in the 5' consensus donor site of intron 4 in the NHS gene in a Chinese family. This mutation led to aberrantly spliced mRNA, which is likely to result in a truncated NHS protein.
      Title: A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
    9. Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
      Title: Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
    10. A nonsense mutation c.322G>T (E108X) co-segregated with the disease in a family. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region.
      Title: Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Anophthalmia-microphthalmia syndrome
    MedGen: C5680330 GeneReviews: Not available
    		Compare labs
    Cataract 40
    MedGen: C4049004 OMIM: 302200 GeneReviews: Not available
    		Compare labs
    Nance-Horan syndrome
    MedGen: C0796085 OMIM: 302350 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-04-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-28)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for Wilms tumor.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22511, DKFZp781F2016, DKFZp781L0254

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    actin remodeling regulator NHS
    Names
    Nance-Horan syndrome (congenital cataracts and dental anomalies)
    congenital cataracts and dental anomalies protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011553.2 RefSeqGene

      Range
      4781..365575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136024.4 → NP_001129496.1  actin remodeling regulator NHS isoform 2

      See identical proteins and their annotated locations for NP_001129496.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 3. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 3.
      Source sequence(s)
      AY456992, BQ017161, KF459002
      Consensus CDS
      CCDS48087.1
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000381170.3, ENST00000398097.7
      Conserved Domains (1) summary
      pfam15273
      Location:263 → 883
      NHS; NHS-like

    2. NM_001291867.2 → NP_001278796.1  actin remodeling regulator NHS isoform 3

      See identical proteins and their annotated locations for NP_001278796.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AL845433, AY436752, BC136415, CR749300
      Consensus CDS
      CCDS94562.1
      UniProtKB/Swiss-Prot
      B7ZVX8, E2DH69, Q5J7Q0, Q5J7Q1, Q68DR5, Q6T4R5
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000502262.1, ENST00000676302.1
      Conserved Domains (1) summary
      pfam15273
      Location:440 → 1060
      NHS; NHS-like

    3. NM_001291868.2 → NP_001278797.1  actin remodeling regulator NHS isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and it thus differs in its 5' UTR and initiates translation at an alternate start codon, and it also lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 3.
      Source sequence(s)
      AY436752, AY456992, CR749300, CR936788
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000478433.1, ENST00000617601.4
      Conserved Domains (1) summary
      pfam15273
      Location:242 → 862
      NHS; NHS-like

    4. NM_198270.4 → NP_938011.1  actin remodeling regulator NHS isoform 1

      See identical proteins and their annotated locations for NP_938011.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3, resulting in an isoform (1) that is shorter than isoform 3.
      Source sequence(s)
      AL845433, AY436752, BQ017161, KF459002
      Consensus CDS
      CCDS14181.1
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000369400.3, ENST00000380060.7
      Conserved Domains (1) summary
      pfam15273
      Location:419 → 1039
      NHS; NHS-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      17375200..17735994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442140.1 → XP_047298096.1  actin remodeling regulator NHS isoform X1

    2. XM_011545528.3 → XP_011543830.1  actin remodeling regulator NHS isoform X2

      UniProtKB/TrEMBL
      A0A087WU78
      Conserved Domains (1) summary
      pfam15273
      Location:124 → 744
      NHS; NHS-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      16957799..17318610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327129.1 → XP_054183104.1  actin remodeling regulator NHS isoform X1

    2. XM_054327130.1 → XP_054183105.1  actin remodeling regulator NHS isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6T4R5.2 GenPept UniProtKB/Swiss-Prot:Q6T4R5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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