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Ctsd Gene Detail
Summary
  • Symbol
    Ctsd
  • Name
    cathepsin D
  • Synonyms
    CatD, CD
  • Feature Type
    protein coding gene
  • IDs
    MGI:88562
    NCBI Gene: 13033
  • Alliance
    genome feature page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:141929647-141941564 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 87.93 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    352 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88562
 protein coding gene Chr7:141929647-141941775 (-)
129S1/SvImJ ENSMUSG00200043545
 protein coding gene Chr7:128496006-128508133 (-)
A/J ENSMUSG00195033880
 protein coding gene Chr7:132978044-132990171 (-)
AKR/J ENSMUSG00220031157
 protein coding gene Chr7:126460273-126472400 (-)
BALB/cJ ENSMUSG00180037705
 protein coding gene Chr7:129665679-129677823 (-)
C3H/HeJ ENSMUSG00175030460
 protein coding gene Chr7:130398955-130411084 (-)
C57BL/6NJ ENSMUSG00215044762
 protein coding gene Chr7:129665322-129677452 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030721
 protein coding gene Chr7:144570990-144587665 (-)
CAST/EiJ ENSTCUG00005046355
 protein coding gene Chr7:132967174-132979330 (-)
CBA/J ENSMUSG00210026362
 protein coding gene Chr7:130156887-130169014 (-)
DBA/2J ENSMUSG00185015215
 protein coding gene Chr7:134435484-134447611 (-)
FVB/NJ ENSMUSG00205031078
 protein coding gene Chr7:130077613-130089740 (-)
JF1/MsJ ENSUMUG00000042296
 protein coding gene Chr7:139510824-139522899 (-)
LP/J ENSMUSG00230041610
 protein coding gene Chr7:140598830-140610957 (-)
NOD/ShiLtJ ENSMUSG00190027151
 protein coding gene Chr7:130264384-130276511 (-)
NZO/HlLtJ ENSMUSG00225050408
 protein coding gene Chr7:138807754-138819881 (-)
PWK/PhJ ENSLUMG00010045666
 protein coding gene Chr7:128638768-128650845 (-)
SPRET/EiJ ENSMSPG00010038728
 protein coding gene Chr7:130105774-130117779 (-)
WSB/EiJ ENSIUOG00005033347
 protein coding gene Chr7:131024158-131036287 (-)



Homology
more
  • Human Ortholog
    CTSD, cathepsin D
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CTSD, cathepsin D
  • Synonyms
    CLN10, CPSD, HEL-S-130P
  • Links
    NCBI Gene ID: 1509
    UniProt: P07339

  • Chr Location
    11p15.5; chr11:1752752-1764573 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ctsd mouse models; 3 with human CTSD associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    48 phenotypes from 4 alleles in 5 genetic backgrounds
    67 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.
Mice homozygous for a null mutation die in a state of anorexia at around age P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells. Near the terminal stage, affected mice have seizures, display retinal atrophy, and become blind.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    58
  • GO References
    31
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
    782
  • Tissues
    107
  • cDNA Data
    833
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13033 NCBI Gene Model | MGI Sequence Detail 11918 C57BL/6J ±  kb
    transcript NM_009983 RefSeq | MGI Sequence Detail 1934 Not Specified  
    polypeptide P18242 UniProt | EBI | MGI Sequence Detail 410 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 839
      Genomic 2
      cDNA 834
      Primer pair 3
      Antibodies 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2246
    References
    more
    • Summaries
      All 183
      Developmental Gene Expression 33
      Diseases 3
      Gene Ontology 31
      Phenotypes 67
    • Earliest
      J:12379 Qin S, et al., Mapping FSHB, CAT, and CTSB to specific sites on 11p. Cytogenet Cell Genet. 1987;46:678 (Abstr.)
    • Latest
      J:386422 Nuzzolillo F, et al., Combined Transcriptomic and Proteomic Profiling Uncovers Developmental Dynamics of Autophagy in the Cortex. Biomedicines. 2026 Apr 2;14(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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    09/08/2026
    MGI 6.24     		The Jackson Laboratory