This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of ... See more...

Aliases for CTSD Gene

Aliases for CTSD Gene

  • Cathepsin D 2 3 4 5
  • Ceroid-Lipofuscinosis, Neuronal 10 2 3
  • EC 3.4.23.5 4 50
  • CLN10 2 3
  • CPSD 3 4
  • Epididymis Secretory Sperm Binding Protein Li 130P 3
  • Cathepsin D (Lysosomal Aspartyl Protease) 2
  • Lysosomal Aspartyl Peptidase 3
  • Lysosomal Aspartyl Protease 3
  • HEL-S-130P 3
  • EC 3.4.23 50
  • CTSD 5

External Ids for CTSD Gene

Previous HGNC Symbols for CTSD Gene

  • CPSD

Previous GeneCards Identifiers for CTSD Gene

  • GC11M001414
  • GC11M001847
  • GC11M001714
  • GC11M001738
  • GC11M001730
  • GC11M001768
  • GC11M001773
  • GC11M001564

Summaries for CTSD Gene

Entrez Gene Summary for CTSD Gene

  • This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]

GeneCards Summary for CTSD Gene

CTSD (Cathepsin D) is a Protein Coding gene. Diseases associated with CTSD include Ceroid Lipofuscinosis, Neuronal, 10 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Apoptosis Modulation and Signaling and Lysosome. Gene Ontology (GO) annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is ENSG00000250644.

UniProtKB/Swiss-Prot Summary for CTSD Gene

  • Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.

Gene Wiki entry for CTSD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTSD Gene

Genomics for CTSD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTSD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J001757 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +3.4 3409 7.7 MYC ZNF600 IKZF1 ZNF580 ZNF592 CEBPA ZNF10 POLR2A NFIC YY1 ENSG00000235027 CTSD TSPAN4 SNORA52 PIDD1 IFITM10 KCNQ1 ENSG00000229512 ENSG00000250644 FAM99B
GH11J001754 Promoter 0.4 EPDnew 250.4 +11.0 10969 0.1 SCRT2 CTSD FAM99B IFITM10 ENSG00000250644
GH11J001869 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.6 -111.4 -111440 14.8 ZNF654 ZMYM3 POLR2A ZNF10 ZIC2 CTCF REST ZNF341 MNT RAD21 TNNT3 TNNI2 SYT8 LSP1 CTSD MIR7847 NONHSAG007400.2 PRR33
GH11J001728 Enhancer 0.6 ENCODE 12 +35.3 35295 0.8 ZNF316 NFE2 MAFG ATF4 MAFK MAFF CEBPB ATF3 RNF2 PKNOX1 ENSG00000229512 ENSG00000235027 ENSG00000250644 CTSD FAM99B KRTAP5-6 LINC02708 lnc-CTSD-4 HSALNG0082141 IFITM10
GH11J001806 Enhancer 0.5 Ensembl 12 -46.0 -46028 8.8 POLR2A KLF1 HLF ZNF512 CTCF AFF1 HSALNG0082149 IFITM10 ENSG00000235027 TNNI2 CTSD ENSG00000229512 ENSG00000250644 MRPL23-AS1 LINC01219 FAM99B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTSD

Top Transcription factor binding sites by QIAGEN in the CTSD gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • Egr-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CTSD Gene

Latest Assembly
chr11:1,752,752-1,764,573
(GRCh38/hg38)
Size:
11,822 bases
Orientation:
Minus strand

Previous Assembly
chr11:1,773,985-1,785,157
(GRCh37/hg19 by Entrez Gene)
Size:
11,173 bases
Orientation:
Minus strand

chr11:1,773,982-1,785,222
(GRCh37/hg19 by Ensembl)
Size:
11,241 bases
Orientation:
Minus strand

Genomic View for CTSD Gene

Genes around CTSD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSD Gene

Proteins for CTSD Gene

  • Protein details for CTSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07339-CATD_HUMAN
    Recommended name:
    Cathepsin D
    Protein Accession:
    P07339
    Secondary Accessions:
    • Q6IB57

    Protein attributes for CTSD Gene

    Size:
    412 amino acids
    Molecular mass:
    44552 Da
    Quaternary structure:
    • Consists of a light chain and a heavy chain (PubMed:8393577, PubMed:1426530). Interacts with ADAM30; this leads to activation of CTSD (PubMed:27333034). Interacts with GRN; stabilizes CTSD; increases its proteolytic activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for CTSD Gene

neXtProt entry for CTSD Gene

Selected DME Specific Peptides for CTSD Gene

P07339:
  • VVFDTGS
  • FGEATKQPG
  • CLSGFMG
  • DTGSSNLW
  • KSSTYVKNGT
  • WILGDVF
  • ELMLGGTDSKYY
  • NNRVGFA
  • IGIGTPPQ
  • SQDTVSVPC
  • LSYLNVTRKAYWQVH
  • YGSGSLSG
  • FIAAKFDGILGMA
  • PLIQGEYM
  • AIVDTGTSL

Post-translational modifications for CTSD Gene

  • N- and O-glycosylated.
  • Undergoes proteolytic cleavage and activation by ADAM30.
  • As well as the major heavy chain which starts at Leu-169, 2 minor forms starting at Gly-170 and Gly-171 have been identified (PubMed:1426530). An additional form starting at Ala-168 has also been identified (PubMed:27333034).
  • Glycosylation at Thr63, Asn134, and Asn263
  • Ubiquitination at Lys28, Lys54, Lys184, and Lys348
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

Domains & Families for CTSD Gene

Gene Families for CTSD Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CTSD Gene

Suggested Antigen Peptide Sequences for CTSD Gene

GenScript: Design optimal peptide antigens:
  • Cathepsin D (CATD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07339

UniProtKB/Swiss-Prot:

CATD_HUMAN :
  • Belongs to the peptidase A1 family.
Family:
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with CTSD: view

Function for CTSD Gene

Molecular function for CTSD Gene

UniProtKB/Swiss-Prot Function:
Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.; EC=3.4.23.5;.
GENATLAS Biochemistry:
cathepsin D,major retinal pigment epithelial aspartic proteinase,lysosomal,cleaving procaspase 3,ubiquitously expressed,involved in epidermal differentiation and major factor in the proteolysis of opsin,potentially recruited during apoptosis,bound to ceramide for proteolytic activity,at most a mild risk factor for sporadic Alzheimer's disease,not decreased in age related maculopathy

Enzyme Numbers (IUBMB) for CTSD Gene

Phenotypes From GWAS Catalog for CTSD Gene

Gene Ontology (GO) - Molecular Function for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 17112520
GO:0008233 peptidase activity IEA,IMP 17188016
GO:0016787 hydrolase activity IEA --
GO:0070001 aspartic-type peptidase activity ISS --
genes like me logo Genes that share ontologies with CTSD: view
genes like me logo Genes that share phenotypes with CTSD: view

Human Phenotype Ontology for CTSD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSD Gene

MGI Knock Outs for CTSD:
  • Ctsd Ctsd<tm1Cptr>
  • Ctsd Ctsd<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSD

No data available for Transcription Factor Targets and HOMER Transcription for CTSD Gene

Localization for CTSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSD Gene

Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380). {ECO:0000269 PubMed:20551380}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSD gene
Compartment Confidence
extracellular 5
endosome 5
lysosome 5
plasma membrane 3
cytoskeleton 3
mitochondrion 3
cytosol 3
golgi apparatus 3
peroxisome 2
nucleus 2
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IEA,ISS 22261194
GO:0005764 lysosome IEA,IDA 1692625
GO:0005765 lysosomal membrane IDA 17188016
GO:0010008 endosome membrane IDA 17188016
genes like me logo Genes that share ontologies with CTSD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTSD Gene

Pathways & Interactions for CTSD Gene

genes like me logo Genes that share pathways with CTSD: view

Pathways by source for CTSD Gene

2 Qiagen pathways for CTSD Gene
  • Ceramide Pathway
  • TNF-Induced Apoptosis Implicating Sphingolipids
1 Cell Signaling Technology pathway for CTSD Gene
1 GeneTex pathway for CTSD Gene

SIGNOR curated interactions for CTSD Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IMP 17188016
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0030574 collagen catabolic process TAS --
GO:0042159 lipoprotein catabolic process IDA 16997486
GO:0043065 positive regulation of apoptotic process IDA 12107093
genes like me logo Genes that share ontologies with CTSD: view

Drugs & Compounds for CTSD Gene

(71) Drugs for CTSD Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylcysteine Experimental Pharma Target 0
1h-Benoximidazole-2-Carboxylic Acid Experimental Pharma Target 0
2-Morpholinoethylamine Experimental Pharma Target 0
5-AMINO-6-CYCLOHEXYL-4-HYDROXY-2-ISOBUTYL-HEXANOIC ACID Experimental Pharma Target 0
CYCLOHEXYLMETHYL-2,3-DIHYDROXY-5-METHYL-HEXYLAMIDE Experimental Pharma Target 0

(48) Additional Compounds for CTSD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for CTSD Gene

Compound Action Cas Number
Cathepsin Inhibitor 1 Cathepsin inhibitor 225120-65-0
E 64d Cysteine protease inhibitor 88321-09-9
E-64 Cysteine protease inhibitor,irriversible 66701-25-5
E-64-c Inhibitor of cysteine proteinases 76684-89-4
genes like me logo Genes that share compounds with CTSD: view

Transcripts for CTSD Gene

mRNA/cDNA for CTSD Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSD

Alternative Splicing Database (ASD) splice patterns (SP) for CTSD Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b
SP1: - - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:

Relevant External Links for CTSD Gene

GeneLoc Exon Structure for
CTSD

Expression for CTSD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTSD Gene

mRNA differential expression in normal tissues according to GTEx for CTSD Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for CTSD Gene

This gene is overexpressed in Adrenal (10.9), Nasal epithelium (6.4), and Bone marrow stromal cell (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTSD Gene



Protein tissue co-expression partners for CTSD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTSD

SOURCE GeneReport for Unigene cluster for CTSD Gene:

Hs.654447

mRNA Expression by UniProt/SwissProt for CTSD Gene:

P07339-CATD_HUMAN
Tissue specificity: Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530).

Evidence on tissue expression from TISSUES for CTSD Gene

  • Kidney(4.9)
  • Nervous system(4.8)
  • Liver(4.8)
  • Lung(4.7)
  • Spleen(4.7)
  • Blood(4.7)
  • Bone marrow(4.6)
  • Pancreas(4.6)
  • Skin(4.6)
  • Intestine(4.4)
  • Eye(4.2)
  • Heart(4.1)
  • Stomach(3.8)
  • Muscle(3.7)
  • Lymph node(3.4)
  • Adrenal gland(3.2)
  • Thyroid gland(3)
  • Bone(2.9)
  • Gall bladder(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • nose
  • outer ear
  • skull
Thorax:
  • lung
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CTSD: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CTSD Gene

Orthologs for CTSD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSD Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia CTSD 29 30
  • 87.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTSD 29
  • 85.74 (n)
CATD 30
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctsd 29
  • 81.69 (n)
Mouse
(Mus musculus)
Mammalia Ctsd 29 16 30
  • 81.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CTSD 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTSD 29 30
  • 72.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTSD 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101735147 29
  • 71.18 (n)
MGC76043 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398557 29
Zebrafish
(Danio rerio)
Actinopterygii ctsd 29 30
  • 68 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11433 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003277 29
  • 62.39 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta cathD 29 30 31
  • 61.9 (n)
ManyToMany
CG13095 31
  • 45 (a)
CG17134 31
  • 44 (a)
CG6508 31
  • 44 (a)
CG10104 30 31
  • 43 (a)
ManyToMany
CG5863 31
  • 40 (a)
CG17283 31
  • 39 (a)
pcl 31
  • 39 (a)
CG5860 31
  • 36 (a)
Worm
(Caenorhabditis elegans)
Secernentea asp-4 29 30 31
  • 58.78 (n)
OneToMany
asp-3 31
  • 44 (a)
asp-6 31
  • 34 (a)
asp-5 31
  • 33 (a)
C11D2.2 31
  • 33 (a)
Y39B6A.21 31
  • 32 (a)
asp-2 31
  • 31 (a)
F21F8.4 31
  • 31 (a)
F28A12.4 31
  • 30 (a)
F59D6.2 31
  • 29 (a)
F59D6.3 31
  • 28 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 29 30 32
  • 51.19 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05929g 29
  • 49.8 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons APA1 29
  • 56.26 (n)
Soybean
(Glycine max)
eudicotyledons Gma.286 29
Rice
(Oryza sativa)
Liliopsida Os01g0663400 29
  • 57.59 (n)
Os.8298 29
Barley
(Hordeum vulgare)
Liliopsida Hv.535 29
Corn
(Zea mays)
Liliopsida Zm.3415 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU02273 29
  • 55.99 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1295 29
Species where no ortholog for CTSD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTSD Gene

ENSEMBL:
Gene Tree for CTSD (if available)
TreeFam:
Gene Tree for CTSD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTSD: view image
Alliance of Genome Resources:
Additional Orthologs for CTSD

Paralogs for CTSD Gene

Paralogs for CTSD Gene

(8) SIMAP similar genes for CTSD Gene using alignment to 5 proteins:

  • CATD_HUMAN
  • C9JH19_HUMAN
  • F8W787_HUMAN
  • F8WD96_HUMAN
  • H7C1V0_HUMAN

Pseudogenes.org Pseudogenes for CTSD Gene

genes like me logo Genes that share paralogs with CTSD: view

Variants for CTSD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CTSD Gene

CATD_HUMAN-P07339
The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTSD Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1000209 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,757,442(-) C/T
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
MISSENSE
1009383 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,753,997(-) G/A
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
SYNONYMOUS
1016374 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,753,513(-) G/C
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
MISSENSE
1018084 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,753,511(-) G/A
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
MISSENSE
1018496 Uncertain Significance: Neuronal ceroid lipofuscinosis 1,753,998(-) C/T
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTSD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTSD Gene

Variant ID Type Subtype PubMed ID
dgv1564n54 CNV loss 21841781
esv1293972 CNV insertion 17803354
nsv467645 CNV gain 19166990
nsv553047 CNV gain 21841781
nsv7642 CNV insertion 18451855
nsv832049 CNV loss 17160897

Variation tolerance for CTSD Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSD Gene

Human Gene Mutation Database (HGMD)
CTSD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSD
Leiden Open Variation Database (LOVD)
CTSD

SNP Genotyping and Copy Number Assays for research

Disorders for CTSD Gene

MalaCards: The human disease database

(54) MalaCards diseases for CTSD Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 10
  • cln10
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
breast disease
  • breast diseases
breast cyst
  • cyst of the breast
- elite association - COSMIC cancer census association via MalaCards
Search CTSD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CATD_HUMAN
  • Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. {ECO:0000269 PubMed:16670177, ECO:0000269 PubMed:16685649, ECO:0000269 PubMed:21990111}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CTSD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTSD: view

No data available for Genatlas for CTSD Gene

Publications for CTSD Gene

  1. Cathepsin D deficiency is associated with a human neurodegenerative disorder. (PMID: 16685649) Steinfeld R … Gartner J (American journal of human genetics 2006) 3 4 22 72
  2. Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease. (PMID: 19571726) Kovacs GG … Budka H (Alzheimer disease and associated disorders 2010) 3 22 40
  3. Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population. (PMID: 16417614) Payton A … Pendleton N (Genes, brain, and behavior 2006) 3 22 40
  4. Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. (PMID: 15211064) Li XQ … Zhang JW (Dementia and geriatric cognitive disorders 2004) 3 22 40
  5. Cathepsin D exon 2 polymorphism associated with general intelligence in a healthy older population. (PMID: 12556904) Payton A … Pendleton N (Molecular psychiatry 2003) 3 22 40

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