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Gene: NHS (NHS actin remodeling regulator) Homo sapiens
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Symbol: NHS
Name: NHS actin remodeling regulator
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cataract, congenital, total; CCT; congenital cataracts and dental anomalies protein; CTRCT40; CXN; DKFZp781F2016; DKFZp781L0254; FLJ22511; Nance-Horan syndrome (congenital cataracts and dental anomalies); Nance-Horan syndrome protein; SCML1
Orthologs:
Mus musculus (house mouse) : Nhs (NHS actin remodeling regulator)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nhs (NHS actin remodeling regulator)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nhs (NHS actin remodeling regulator)
Pan paniscus (bonobo/pygmy chimpanzee) : NHS (NHS actin remodeling regulator)
Canis lupus familiaris (dog) : NHS (NHS actin remodeling regulator)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nhs (NHS actin remodeling regulator)
Sus scrofa (pig) : NHS (NHS actin remodeling regulator)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X17,375,420 - 17,735,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X17,393,357 - 17,754,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X17,303,464 - 17,664,035 (+)NCBINCBI36hg18NCBI36
Build 34X17,153,199 - 17,513,768NCBI
CeleraX21,515,624 - 21,873,432 (+)NCBI
Cytogenetic MapXp22.2-p22.13NCBI
HuRefX15,153,213 - 15,512,673 (+)NCBIHuRef
CHM1_1X17,424,184 - 17,784,494 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NHS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1352036
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.