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; 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		CXN, SCML1
Human Chr (Location)		Xp22.13; chrX:17393543-17754114 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NHS

Alleles and phenotypes

All alleles(12) : Targeted(2) Gene trapped(9) Radiation induced(1)
 

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)   

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)
Theiler Stages: 22, 23, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	3
Western blot	6
RT-PCR	12

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(10) cDNA(8) 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	TC1664625
DoTS	DT.101237311
NIA Mouse Gene Index	U100742
Consensus CDS Project	CCDS41201.1
International Mouse Knockout Project Status	Nhs

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019479	VEGA Gene Model | MGI Sequence Detail	326435	C57BL/6J
transcript	OTTMUST00000046505	VEGA | MGI Sequence Detail	8805	Not Applicable
polypeptide	OTTMUSP00000020997	VEGA | MGI Sequence Detail	1647	Not Applicable

All sequences(23) RefSeq(3) UniProt(4)

Polymorphisms

SNPs(1034 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-15469, MGI:2685235, MGI:98971