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Nhs
Gene Detail
Symbol

Name
ID
Nhs
Nance-Horan syndrome (human)
MGI:2684894
Synonyms
LOC195727, LOC245686
Feature Type
protein coding gene
Genetic Map
Chromosome X
74.17 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
ChrX:161833296-162159730 bp, - strand
From VEGA annotation of GRCm38

  326435 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18866  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Nhs

Human
homologs
Human Homolog NHS, Nance-Horan syndrome (congenital cataracts and dental anomalies)
NCBI Gene ID 4810
neXtProt AC  NX_Q6T4R5
Human Synonyms  CTRCT40, CXN, SCML1
Human Chr (Location)  Xp22.13; chrX:17375234-17735994 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human NHS
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(9) Radiation induced(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Heterozygous females exhibit variable and patchy lens opacity. Homozygous females and hemizygous males exhibit complete lens opacity associated with progressive degeneration of primary fibers beginning around embryonic day 15.
 
Human Diseases Modeled Using Mouse Nhs (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Nhs interacts with 430 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (2 annotations)
Process cell differentiation, lens development in camera-type eye
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (26)    Tissues (10)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 3
Western blot 6
RT-PCR 12
cDNA source data(9)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(9) Primer pair(2)
Microarray probesets(1)
Other database
links
VEGA Gene ModelOTTMUSG00000019479 (Evidence)
Ensembl Gene ModelENSMUSG00000059493 (Evidence)
Entrez Gene195727 (Evidence)
UniGene336313
DFCITC1612329, TC1664625
DoTSDT.101237311, DT.91324340
NIA Mouse Gene IndexU100742
Consensus CDS ProjectCCDS41201.1, CCDS72461.1
International Mouse Knockout Project StatusNhs
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019479 VEGA Gene Model | MGI Sequence Detail 326435 C57BL/6J ±  kb
transcript OTTMUST00000046505 VEGA | MGI Sequence Detail 8805 Not Applicable 
polypeptide OTTMUSP00000020997 VEGA | MGI Sequence Detail 1647 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(9) UniProt(4)
Polymorphisms
SNPs within 2kb(1068 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR024845 Nance-Horan syndrome protein family
Protein Ontology PR:000011204 nance-Horan syndrome protein
References
(Earliest) J:14118 Favor J, et al., Position of Xcat, a new X-linked cataract mutation. Mouse News Lett. 1987;77:139
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(33)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-15469, MGI:2685235, MGI:98971

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory