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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
  • Gene Overview
    MyGene.info: CTSD
Location & Maps
more
  • Sequence Map
    Chr7:142371096-142382667 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      11572 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: HomoloGene, HGNC
  • Synonyms
    CLN10, CPSD, HEL-S-130P
  • Links
    NCBI Gene ID: 1509
    neXtProt AC: NX_P07339

  • Chr Location
    11p15.5; chr11:1752752-1763992 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 55616
    1 human;1 mouse;1 rat;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;4 frog, western clawed
  • 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
       Ceroid Lipofuscinosis, Neuronal, 10; CLN10   OMIM: 610127 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
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  • Phenotype Summary
    46 phenotypes from 4 alleles in 5 genetic backgrounds
    39 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.
  • All Mutations and Alleles
    7
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Ctsd
  • Incidental Mutations
    APF
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
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  • All GO Annotations
    21
  • GO References
    18
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
    831
  • Literature Summary
    19
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018797 VEGA Gene Model | MGI Sequence Detail 11572 C57BL/6J ±  kb
transcript OTTMUST00000084824 VEGA | MGI Sequence Detail 833 Not Applicable  
polypeptide OTTMUSP00000045756 VEGA | MGI Sequence Detail 278 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    89 from dbSNP Build 142
  • RFLP
    2
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 835
    Genomic 2
    cDNA 832
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-2246
References
more
  • Summaries
    All 105
    Developmental Gene Expression 19
    Diseases 3
    Gene Ontology 18
    Phenotypes 39
  • 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:231414 Okada R, et al., Cathepsin D deficiency induces oxidative damage in brain pericytes and impairs the blood-brain barrier. Mol Cell Neurosci. 2015 Jan;64:51-60
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory