About   Help   FAQ
Ctsd Gene Detail
Summary
  • Symbol
    Ctsd
  • Name
    cathepsin D
  • Synonyms
    CatD, CD
  • Feature Type
    protein coding gene
  • IDs
    MGI:88562
    NCBI Gene: 13033
  • Alliance
    gene 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
    75 from dbSNP Build 142
  • Strain Annotations
    18
  • 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 MGP_129S1SvImJ_G0033254
 protein coding gene Chr7:147618523-147635409 (-)
A/J MGP_AJ_G0033237
 protein coding gene Chr7:143362049-143378960 (-)
AKR/J MGP_AKRJ_G0033169
 protein coding gene Chr7:147386334-147403223 (-)
BALB/cJ MGP_BALBcJ_G0033238
 protein coding gene Chr7:143134258-143151189 (-)
C3H/HeJ MGP_C3HHeJ_G0032953
 protein coding gene Chr7:147146720-147164321 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033748
 protein coding gene Chr7:152973019-152989905 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030721
 protein coding gene Chr7:144570990-144587665 (-)
CAST/EiJ MGP_CASTEiJ_G0032276
 protein coding gene Chr7:139455961-139472907 (-)
CBA/J MGP_CBAJ_G0032924
 protein coding gene Chr7:158208414-158225315 (-)
DBA/2J MGP_DBA2J_G0033078
 protein coding gene Chr7:141316073-141332965 (-)
FVB/NJ MGP_FVBNJ_G0033027
 protein coding gene Chr7:141251650-141268539 (-)
LP/J MGP_LPJ_G0033171
 protein coding gene Chr7:149133561-149150450 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033061
 protein coding gene Chr7:158832277-158849273 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033767
 protein coding gene Chr7:146332580-146349471 (-)
PWK/PhJ MGP_PWKPhJ_G0031984
 protein coding gene Chr7:134643291-134660244 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031830
 protein coding gene Chr7:133137264-133154052 (-)
WSB/EiJ MGP_WSBEiJ_G0032388
 protein coding gene Chr7:147316727-147333618 (-)



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
    neXtProt AC: NX_P07339
    UniProt: P07339

  • Chr Location
    11p15.5; chr11:1752752-1763992 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Ctsd mouse models; 1 with human CTSD associations

Human Disease Mouse Models
      
IDs
 View 4 models
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
    47 phenotypes from 4 alleles in 5 genetic backgrounds
    54 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
    33
  • GO References
    24
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded 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
    821
  • Tissues
    91
  • cDNA Data
    832
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    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 836
      Genomic 2
      cDNA 833
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2246
    References
    more
    • Summaries
      All 143
      Developmental Gene Expression 26
      Diseases 3
      Gene Ontology 24
      Phenotypes 54
    • Earliest
      J:12379 Qin S, et al., Mapping FSHB, CAT, and CTSB to specific sites on 11p. Cytogenet Cell Genet. 1987;46:678
    • Latest
      J:320658 Liu J, et al., Intravitreal gene therapy restores the autophagy-lysosomal pathway and attenuates retinal degeneration in cathepsin D-deficient mice. Neurobiol Dis. 2022 Mar;164:105628
    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 & Copyright Notice
    Send questions and comments to User Support.     		last database update
    06/28/2022
    MGI 6.20     		The Jackson Laboratory