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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

HCOP human homology predictions: NHS
Gene Tree: Nhs

Human
homologs
NHS, Nance-Horan syndrome (congenital cataracts and dental anomalies)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4810
neXtProt AC: NX_Q6T4R5

Human Synonyms: CTRCT40, CXN, SCML1

Human Chr (Location): Xp22.13; chrX:17375420-17735994 (+)  GRCh38.p2

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 in Mice Using Nhs (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Nhs interacts with 429 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nhs ; ZFIN nhsa    NEW 
Molecular
reagents
All nucleic(11) cDNA(9) Primer pair(2)
Microarray probesets(1)
Other database
links
VEGA Gene Model OTTMUSG00000019479 (Evidence)
Ensembl Gene Model ENSMUSG00000059493 (Evidence)
Entrez Gene 195727 (Evidence)
UniGene 336313
DFCI TC1612329, TC1664625
DoTS DT.101237311, DT.91324340
NIA Mouse Gene Index U100742
Consensus CDS Project CCDS41201.1, CCDS72461.1
International Mouse Phenotyping Consortium Status Nhs
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(35) RefSeq(11) 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(31)
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
08/25/2015
MGI 6.0
The Jackson Laboratory