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Nsdhl Gene Detail
Summary
  • Symbol
    Nsdhl
  • Name
    NAD(P) dependent steroid dehydrogenase-like
  • Synonyms
    bare patches, Bpa, H105E3, Str, striated, XAP104
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099438
    NCBI Gene: 18194
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:71962163-72002120 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.29 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    711 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1099438
 protein coding gene ChrX:71962127-72002134 (+)
129S1/SvImJ ENSMUSG00200040798
 protein coding gene ChrX:54096254-54136205 (+)
A/J ENSMUSG00195032231
 protein coding gene ChrX:57719048-57751853 (+)
AKR/J ENSMUSG00220044308
 protein coding gene ChrX:53021767-53054574 (+)
BALB/cJ ENSMUSG00180047677
 protein coding gene ChrX:54299868-54332671 (+)
C3H/HeJ ENSMUSG00175030569
 protein coding gene ChrX:57870279-57903082 (+)
C57BL/6NJ ENSMUSG00215040481
 protein coding gene ChrX:54363371-54403324 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033144
 protein coding gene ChrX:67943683-67969557 (+)
CAST/EiJ ENSTCUG00005040876
 protein coding gene ChrX:55803409-55829898 (+)
CBA/J ENSMUSG00210043936
 protein coding gene ChrX:54540867-54573672 (+)
DBA/2J ENSMUSG00185032393
 protein coding gene ChrX:66985778-67018581 (+)
FVB/NJ ENSMUSG00205033125
 protein coding gene ChrX:54034327-54067130 (+)
JF1/MsJ ENSUMUG00000018786
 protein coding gene ChrX:87745819-87772273 (+)
LP/J ENSMUSG00230035679
 protein coding gene ChrX:73544516-73584469 (+)
NOD/ShiLtJ ENSMUSG00190036369
 protein coding gene ChrX:53803477-53836282 (+)
NZO/HlLtJ ENSMUSG00225047804
 protein coding gene ChrX:78748853-78788804 (+)
PWK/PhJ ENSLUMG00010045172
 protein coding gene ChrX:53627051-53653529 (+)
SPRET/EiJ ENSMSPG00010030187
 protein coding gene ChrX:56626552-56654203 (+)
WSB/EiJ ENSIUOG00005047123
 protein coding gene ChrX:54655054-54681575 (+)



Homology
more
  • Human Ortholog
    NSDHL, NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSDHL, NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
  • Synonyms
    H105E3, SDR31E1, XAP104
  • Links
    NCBI Gene ID: 50814
    UniProt: Q15738

  • Chr Location
    Xq28; chrX:152830967-152869729 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Nsdhl mouse models; 2 with human NSDHL associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    69 phenotypes from 11 alleles in 6 genetic backgrounds
    30 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 a striped coat or skin hyperkeratotic lesions leaving bare patches on the coat, with some mutations also resulting in skeletal dysplasia and eye defects. Hemizygous male and homozygous female mice die before birth, presumably due to placental defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    15
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
    827
  • Tissues
    185
  • cDNA Data
    19
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031349 Ensembl Gene Model | MGI Sequence Detail 39958 C57BL/6J ±  kb
    transcript ENSMUST00000033715 Ensembl | MGI Sequence Detail 2168 Not Applicable  
    polypeptide ENSMUSP00000033715 Ensembl | MGI Sequence Detail 362 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 5
      cDNA 19
      Primer pair 2
      Other 2
      Antibodies 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-14635, MGD-MRK-1611, MGI:2147912, MGI:88187, MGI:98437
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 15
      Phenotypes 30
    • Earliest
      J:272 Lyon MF, Attempts to test the inactive-X theory of dosage compensation in mammals. Genet Res. 1963;4(1):93-103
    • Latest
      J:329313 Yu J, et al., Effects and potential mechanism of Ca(2+)/calmodulindependent protein kinase II pathway inhibitor KN93 on the development of ovarian follicle. Int J Mol Med. 2022 Oct;50(4)
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory