NHS (NHS actin remodeling regulator)

2018-07-01  

Identity

HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
CTRCT40,CXN,SCML1
FUSION GENES

Other Information

Locus ID:

NCBI: 4810
MIM: 300457
HGNC: 7820
Ensembl: ENSG00000188158

Variants:

dbSNP: 4810
ClinVar: 4810
TCGA: ENSG00000188158
COSMIC: NHS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188158ENST00000380060Q6T4R5
ENSG00000188158ENST00000398097Q6T4R5
ENSG00000188158ENST00000615422A0A087WWC4
ENSG00000188158ENST00000617601A0A087WU78
ENSG00000188158ENST00000648929A0A3B3ITB2

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
145646672003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.36
154660112004Identification of the gene for Nance-Horan syndrome (NHS).20
249682232014Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.20
166755322006Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.19
203321002010The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.19
194144852009X-linked cataract and Nance-Horan syndrome are allelic disorders.17
156237492005Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.14
189490622008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.12
174176072007Identification of three novel NHS mutations in families with Nance-Horan syndrome.11

Citation

Dessen P

NHS (NHS actin remodeling regulator)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57511/nhs