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
  • Gene Overview
    MyGene.info: CTSD
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr7:142375916-142387870 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      11955 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 87.93 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CTSD, cathepsin D
  • Vertebrate Orthologs
    12
  • Human Ortholog
    CTSD, cathepsin D
    Orthology source: HGNC, HomoloGene
  • 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
  • HomoloGene
    Vertebrate Homology Class 55616
    1 human;1 mouse;1 rat;1 cattle;1 dog;1 chicken;1 zebrafish;4 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CTSD
  • Protein SuperFamily
    Pepsin
  • Gene Tree
    Ctsd
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
    45 phenotypes from 4 alleles in 5 genetic backgrounds
    43 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 ~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
    22
  • GO References
    20
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 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
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
    148
  • Tissues
    89
  • cDNA Data
    832
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13033 NCBI Gene Model | MGI Sequence Detail 11955 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
    Polymorphisms
    less
    • SNPs within 2kb
      78 from dbSNP Build 142
    • RFLP
      2
    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 122
      Developmental Gene Expression 20
      Diseases 3
      Gene Ontology 20
      Phenotypes 43
    • 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:243582 Koike M, et al., Purkinje Cells Are More Vulnerable to the Specific Depletion of Cathepsin D Than to That of Atg7. Am J Pathol. 2017 Jul;187(7):1586-1600
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    09/11/2018
    MGI 6.12     		The Jackson Laboratory