About   Help   FAQ
Ncstn Gene Detail
Summary
  • Symbol
    Ncstn
  • Name
    nicastrin
  • Synonyms
    9430068N19Rik, D1Dau13e, mKIAA0253, Nct, nicastrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891700
    NCBI Gene: 59287
  • Alliance
    genome feature page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:171893580-171910356 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.54 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    449 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891700
 protein coding gene Chr1:171893580-171910362 (-)
129S1/SvImJ ENSMUSG00200044316
 protein coding gene Chr1:169835010-169851842 (-)
A/J ENSMUSG00195045530
 protein coding gene Chr1:169136470-169153305 (-)
AKR/J ENSMUSG00220025375
 protein coding gene Chr1:168867575-168884411 (-)
BALB/cJ ENSMUSG00180039871
 protein coding gene Chr1:169463632-169480465 (-)
C3H/HeJ ENSMUSG00175042077
 protein coding gene Chr1:169474607-169491440 (-)
C57BL/6NJ ENSMUSG00215043843
 protein coding gene Chr1:168851174-168867956 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014884
 protein coding gene Chr1:162337639-162354952 (-)
CAST/EiJ ENSTCUG00005043708
 protein coding gene Chr1:167418809-167435613 (-)
CBA/J ENSMUSG00210032846
 protein coding gene Chr1:169341902-169358736 (-)
DBA/2J ENSMUSG00185028477
 protein coding gene Chr1:173644021-173660855 (-)
FVB/NJ ENSMUSG00205037339
 protein coding gene Chr1:168315207-168331909 (-)
JF1/MsJ ENSUMUG00000010469
 protein coding gene Chr1:172567070-172583850 (-)
LP/J ENSMUSG00230025785
 protein coding gene Chr1:173239271-173256904 (-)
NOD/ShiLtJ ENSMUSG00190036727
 protein coding gene Chr1:169150077-169166910 (-)
NZO/HlLtJ ENSMUSG00225002475
 protein coding gene Chr1:176819294-176836923 (-)
PWK/PhJ ENSLUMG00010032487
 protein coding gene Chr1:168103063-168119896 (-)
SPRET/EiJ ENSMSPG00010047866
 protein coding gene Chr1:171459550-171476519 (-)
WSB/EiJ ENSIUOG00005038568
 protein coding gene Chr1:168479707-168496541 (-)



Homology
more
  • Human Ortholog
    NCSTN, nicastrin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NCSTN, nicastrin
  • Synonyms
    ATAG1874
  • Links
    NCBI Gene ID: 23385
    UniProt: Q92542

  • Chr Location
    1q23.2; chr1:160343294-160358957 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ncstn mouse models; 3 with human NCSTN associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 9 alleles in 11 genetic backgrounds
    10 phenotypes from multigenic genotypes
    1 images
    37 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.
Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. Homozygosity for the p.V439G mutation leads to impaired B cell development, increased susceptibility to induced colitis and hypopigmentation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    121
  • GO References
    33
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
    652
  • Tissues
    30
  • cDNA Data
    154
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 59287 NCBI Gene Model | MGI Sequence Detail 16777 C57BL/6J ±  kb
    transcript NM_021607 RefSeq | MGI Sequence Detail 2864 ZRU/MplStud  
    polypeptide P57716 UniProt | EBI | MGI Sequence Detail 708 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 169
      Genomic 14
      cDNA 154
      Primer pair 1
      Antibodies 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1347057, MGI:1888989, MGI:1915366
    References
    more
    • Summaries
      All 115
      Developmental Gene Expression 16
      Diseases 3
      Gene Ontology 33
      Phenotypes 37
    • Earliest
      J:52853 Underhill DA, et al., Physical delineation of a 700-kb region overlapping the Looptail mutation on mouse chromosome 1. Genomics. 1999 Jan 15;55(2):185-93
    • Latest
      J:372758 Bi H, et al., Pen-2 regulates glial homeostasis by coordinating self-renewal and transdifferentiation programs in oligodendrocyte precursor cells. Stem Cell Reports. 2025 Sep 9;20(9):102612
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory