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

Gene ID: 4810, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (17375200..17735994)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16957799..17318610)
105.20220307 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
  • 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. Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families. Hernández V, et al. Ophthalmic Genet, 2019 Dec. PMID 31755796
  2. 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
  3. A novel small deletion in the NHS gene associated with Nance-Horan syndrome. Li H, et al. Sci Rep, 2018 Feb 5. PMID 29402928, Free PMC Article
  4. 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. Gómez-Laguna L, et al. Ophthalmic Genet, 2018 Jan-Feb. PMID 28922055
  5. NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome. Shoshany N, et al. Curr Eye Res, 2017 Sep. PMID 28557584

See all (54) 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_2023_10

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

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