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Nhs Gene Detail
Summary
  • Symbol
    Nhs
  • Name
    NHS actin remodeling regulator
  • Synonyms
    LOC195727, LOC245686, Nance-Horan syndrome (human)
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684894
    NCBI Gene: 195727
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:160616286-160942437 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 74.17 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5514 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2684894
 protein coding gene ChrX:160616286-160942726 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036238
 protein coding gene ChrX:159803799-160145298 (-)
A/J MGP_AJ_G0036208
 protein coding gene ChrX:159046064-159397189 (-)
AKR/J MGP_AKRJ_G0036136
 protein coding gene ChrX:164120298-164456506 (-)
BALB/cJ MGP_BALBcJ_G0036201
 protein coding gene ChrX:157068454-157400521 (-)
C3H/HeJ MGP_C3HHeJ_G0035907
 protein coding gene ChrX:160189030-160523903 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036723
 protein coding gene ChrX:164551251-164903529 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033545
 protein coding gene ChrX:150197169-150514438 (-)
CAST/EiJ MGP_CASTEiJ_G0035196
 protein coding gene ChrX:139191649-139527376 (-)
CBA/J MGP_CBAJ_G0035882
 protein coding gene ChrX:169249871-169596504 (-)
DBA/2J MGP_DBA2J_G0036048
 protein coding gene ChrX:157977927-158307051 (-)
FVB/NJ MGP_FVBNJ_G0035979
 protein coding gene ChrX:157106979-157431737 (-)
LP/J MGP_LPJ_G0036133
 protein coding gene ChrX:160998489-161326312 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0036011
 protein coding gene ChrX:177951786-178313857 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036764
 protein coding gene ChrX:159321073-159652647 (-)
PWK/PhJ MGP_PWKPhJ_G0034894
 protein coding gene ChrX:136029607-136364506 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034715
 protein coding gene ChrX:139623486-139965887 (-)
WSB/EiJ MGP_WSBEiJ_G0035331
 protein coding gene ChrX:157314320-157650778 (-)



Homology
more
  • Human Ortholog
    NHS, NHS actin remodeling regulator
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NHS, NHS actin remodeling regulator
  • Synonyms
    CTRCT40, CXN, SCML1
  • Links
    NCBI Gene ID: 4810
    neXtProt AC: NX_Q6T4R5
    UniProt: Q6T4R5

  • Chr Location
    Xp22.2-p22.13; chrX:17375200-17735994 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nhs mouse models; 2 with human NHS associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    3
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    833
  • Tissues
    79
  • cDNA Data
    12
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 195727 NCBI Gene Model | MGI Sequence Detail 326152 C57BL/6J ±  kb
    transcript NM_001290526 RefSeq | MGI Sequence Detail 5382 Not Specified  
    polypeptide NP_001277455 RefSeq | MGI Sequence Detail 1647 Not Specified  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR024845 Actin remodeling regulator NHS-like
    • GlyGen
      B9EJX2 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 12
      Primer pair 6
      Other 1

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGD-MRK-15469, MGI:2685235, MGI:98971
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 3
      Phenotypes 19
    • Earliest
      J:163517 Favor J, et al., Radiation-induced forward and reverse specific locus mutations and dominant cataract mutations in treated strain BALB/c and DBA/2 male mice. Mutat Res. 1987 Mar;177(1):161-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory