Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1513
Gene name Gene Name - the full gene name approved by the HGNC.	Cathepsin K
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTSK
Synonyms (NCBI Gene) Gene synonyms aliases	CTS02, CTSO, CTSO1, CTSO2, PKND, PYCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PKND
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is

Show/Hide all(40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs29001685	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs74315301	T>C	Pathogenic	Terminator codon variant, stop lost
rs74315302	C>G	Pathogenic	Missense variant, coding sequence variant
rs74315303	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs74315304	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs74315305	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315306	T>A	Pathogenic	Stop gained, coding sequence variant
rs75481239	A>C,T	Likely-pathogenic	Splice donor variant
rs142097792	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs202040269	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs371277428	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs375958814	G>A,C,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs758450569	->TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs762780994	C>T	Pathogenic	Coding sequence variant, missense variant
rs773943327	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs778368118	C>A,T	Likely-pathogenic	Initiator codon variant, missense variant
rs780202604	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs781168584	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs868112062	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1057516514	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516587	T>C	Likely-pathogenic	Splice acceptor variant
rs1057516627	TCCAGGGCACCCACAGAGCTAAAAGCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516725	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516790	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516839	A>-	Likely-pathogenic	Splice donor variant
rs1057516891	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517252	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517263	C>T	Likely-pathogenic	Splice donor variant
rs1057517279	C>A,T	Likely-pathogenic	Splice donor variant
rs1553196764	->GCTGTAAGACCAATCAAGAAAAA	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1553196900	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553196906	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553196934	C>T	Likely-pathogenic	Splice donor variant
rs1553196945	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553197230	C>T	Likely-pathogenic	Splice donor variant
rs1553197239	GG>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553197262	C>G	Likely-pathogenic	Splice acceptor variant
rs1557823855	C>A	Pathogenic	Splice acceptor variant
rs1571122183	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1571123333	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038461	hsa-miR-296-3p	CLASH	23622248
MIRT915948	hsa-miR-23a	CLIP-seq
MIRT915949	hsa-miR-23b	CLIP-seq
MIRT915950	hsa-miR-23c	CLIP-seq
MIRT915951	hsa-miR-3154	CLIP-seq
MIRT915952	hsa-miR-7	CLIP-seq
MIRT2510478	hsa-miR-127-5p	CLIP-seq
MIRT2510479	hsa-miR-128	CLIP-seq
MIRT2510480	hsa-miR-1293	CLIP-seq
MIRT2510481	hsa-miR-185	CLIP-seq
MIRT2510482	hsa-miR-197	CLIP-seq
MIRT2510483	hsa-miR-2110	CLIP-seq
MIRT2510484	hsa-miR-216a	CLIP-seq
MIRT2510485	hsa-miR-3153	CLIP-seq
MIRT2510486	hsa-miR-3613-3p	CLIP-seq
MIRT2510487	hsa-miR-3973	CLIP-seq
MIRT2510488	hsa-miR-3974	CLIP-seq
MIRT2510489	hsa-miR-3977	CLIP-seq
MIRT2510490	hsa-miR-4264	CLIP-seq
MIRT2510491	hsa-miR-4270	CLIP-seq
MIRT2510492	hsa-miR-4271	CLIP-seq
MIRT2510493	hsa-miR-4306	CLIP-seq
MIRT2510494	hsa-miR-4441	CLIP-seq
MIRT2510495	hsa-miR-4476	CLIP-seq
MIRT2510496	hsa-miR-4483	CLIP-seq
MIRT2510497	hsa-miR-4533	CLIP-seq
MIRT2510498	hsa-miR-4644	CLIP-seq
MIRT2510499	hsa-miR-4672	CLIP-seq
MIRT2510500	hsa-miR-4686	CLIP-seq
MIRT2510501	hsa-miR-4688	CLIP-seq
MIRT2510502	hsa-miR-4701-5p	CLIP-seq
MIRT2510503	hsa-miR-4724-5p	CLIP-seq
MIRT2510504	hsa-miR-4725-3p	CLIP-seq
MIRT2510505	hsa-miR-4738-3p	CLIP-seq
MIRT2510506	hsa-miR-4797-3p	CLIP-seq
MIRT2510507	hsa-miR-486-3p	CLIP-seq
MIRT2510508	hsa-miR-579	CLIP-seq
MIRT2510509	hsa-miR-588	CLIP-seq
MIRT2678792	hsa-miR-106a	CLIP-seq
MIRT2678793	hsa-miR-106b	CLIP-seq
MIRT2510478	hsa-miR-127-5p	CLIP-seq
MIRT2510479	hsa-miR-128	CLIP-seq
MIRT2510480	hsa-miR-1293	CLIP-seq
MIRT2678794	hsa-miR-17	CLIP-seq
MIRT2510481	hsa-miR-185	CLIP-seq
MIRT2510482	hsa-miR-197	CLIP-seq
MIRT2678795	hsa-miR-20a	CLIP-seq
MIRT2678796	hsa-miR-20b	CLIP-seq
MIRT2510483	hsa-miR-2110	CLIP-seq
MIRT2510484	hsa-miR-216a	CLIP-seq
MIRT2510485	hsa-miR-3153	CLIP-seq
MIRT2510486	hsa-miR-3613-3p	CLIP-seq
MIRT2510487	hsa-miR-3973	CLIP-seq
MIRT2510488	hsa-miR-3974	CLIP-seq
MIRT2510489	hsa-miR-3977	CLIP-seq
MIRT2510490	hsa-miR-4264	CLIP-seq
MIRT2510491	hsa-miR-4270	CLIP-seq
MIRT2510492	hsa-miR-4271	CLIP-seq
MIRT2678797	hsa-miR-4287	CLIP-seq
MIRT2510493	hsa-miR-4306	CLIP-seq
MIRT2510494	hsa-miR-4441	CLIP-seq
MIRT2510495	hsa-miR-4476	CLIP-seq
MIRT2510496	hsa-miR-4483	CLIP-seq
MIRT2510497	hsa-miR-4533	CLIP-seq
MIRT2510498	hsa-miR-4644	CLIP-seq
MIRT2510499	hsa-miR-4672	CLIP-seq
MIRT2678798	hsa-miR-4685-3p	CLIP-seq
MIRT2510500	hsa-miR-4686	CLIP-seq
MIRT2510501	hsa-miR-4688	CLIP-seq
MIRT2510502	hsa-miR-4701-5p	CLIP-seq
MIRT2510503	hsa-miR-4724-5p	CLIP-seq
MIRT2510504	hsa-miR-4725-3p	CLIP-seq
MIRT2510505	hsa-miR-4738-3p	CLIP-seq
MIRT2510506	hsa-miR-4797-3p	CLIP-seq
MIRT2510507	hsa-miR-486-3p	CLIP-seq
MIRT2678799	hsa-miR-519a	CLIP-seq
MIRT2678800	hsa-miR-519b-3p	CLIP-seq
MIRT2678801	hsa-miR-519c-3p	CLIP-seq
MIRT2678802	hsa-miR-519d	CLIP-seq
MIRT2678803	hsa-miR-520g	CLIP-seq
MIRT2678804	hsa-miR-520h	CLIP-seq
MIRT2510508	hsa-miR-579	CLIP-seq
MIRT2510509	hsa-miR-588	CLIP-seq
MIRT2678805	hsa-miR-93	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
MITF	Activation	21602817
SPI1	Unknown	15304486

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000422	Process	Autophagy of mitochondrion	HMP	24912190
GO:0001968	Function	Fibronectin binding	IPI	22952693
GO:0002224	Process	Toll-like receptor signaling pathway	TAS
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA	21873635
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	22952693
GO:0005515	Function	Protein binding	IPI	12504904
GO:0005518	Function	Collagen binding	IDA	22952693
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	11082042, 22952693
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	11082042, 22365146
GO:0006508	Process	Proteolysis	TAS	7818555
GO:0006590	Process	Thyroid hormone generation	IDA	11082042
GO:0006955	Process	Immune response	IBA	21873635
GO:0008234	Function	Cysteine-type peptidase activity	IDA	19834056
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030574	Process	Collagen catabolic process	IDA	19834056, 22952693
GO:0030574	Process	Collagen catabolic process	TAS
GO:0036021	Component	Endolysosome lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043394	Function	Proteoglycan binding	IPI	22952693
GO:0045616	Process	Regulation of keratinocyte differentiation	TAS
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IBA	21873635
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IDA	11082042, 22952693

MIM	HGNC	e!Ensembl
601105	2536	ENSG00000143387

Protein

UniProt ID

P43235

Protein name

Cathepsin K (EC 3.4.22.38) (Cathepsin O) (Cathepsin O2) (Cathepsin X)

Protein function

Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix deg

PDB

1ATK , 1AU0 , 1AU2 , 1AU3 , 1AU4 , 1AYU , 1AYV , 1AYW , 1BGO , 1BY8 , 1MEM , 1NL6 , 1NLJ , 1Q6K , 1SNK , 1TU6 , 1U9V , 1U9W , 1U9X , 1VSN , 1YK7 , 1YK8 , 1YT7 , 2ATO , 2AUX , 2AUZ , 2BDL , 2R6N , 3C9E , 3H7D , 3KW9 , 3KWB , 3KWZ , 3KX1 , 3O0U , 3O1G , 3OVZ , 4DMX , 4DMY , 4N79 , 4N8W , 4X6H , 4X6I , 4X6J , 4YV8 , 4YVA , 5J94 , 5JA7 , 5JH3 , 5TDI , 5TUN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08246	Inhibitor_I29	26 → 86	Cathepsin propeptide inhibitor domain (I29)	Domain
PF00112	Peptidase_C1	115 → 328	Papain family cysteine protease	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in osteoclasts (bones) (PubMed:7805878). Expressed in thyroid epithelial cells (PubMed:11082042). {ECO:0000269|PubMed:11082042, ECO:0000269|PubMed:7805878}.

Sequence

MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIH
NLEASLGVHTYELAMNHLGDMTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVD
YRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLLNLSPQNLVDCVSENDGCGGG
YMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYREIPEGNEKALKRAVA
RVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNSWGE
NWGNKGYILMARNKNNACGIANLASFPKM

Sequence length

329

Interactions

View interactions

	KEGG		Reactome
	Lysosome Apoptosis Osteoclast differentiation Toll-like receptor signaling pathway Rheumatoid arthritis		Collagen degradation Degradation of the extracellular matrix Activation of Matrix Metalloproteinases Trafficking and processing of endosomal TLR MHC class II antigen presentation RUNX1 regulates transcription of genes involved in differentiation of keratinocytes

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	30664745
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	25356585
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19428782, 16715494
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Osteomyelitis	Osteomyelitis		ClinVar
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA

Show/Hide Text Mining Associations (103)

Disease Name	Relationship Type	References
Associations from Text Mining
Acro Osteolysis	Associate	24767306
Allergic Fungal Sinusitis	Associate	33005006
Angiomyolipoma	Associate	19060845, 25550868
Aortic Aneurysm Abdominal	Associate	17322367, 22804761, 23958260, 24833013
Aortic Aneurysm Familial Abdominal 1	Inhibit	23958260
Arthritis Psoriatic	Associate	18975331
Arthritis Rheumatoid	Associate	10693863, 11920402, 35896699
Bone Cysts Aneurysmal	Associate	22330339
Bone Diseases	Associate	12568399, 18302508, 18678577, 25818344, 30199612, 36138018, 36696904, 8938428
Bone Diseases Metabolic	Associate	24269275
Bone Resorption	Associate	12039963, 33670411, 35896699, 38139307, 39684735
Bone Resorption	Inhibit	16280328
Breast Neoplasms	Associate	18765527
Cap Myopathy	Associate	12568399
Carcinoma Giant Cell	Associate	35697931
Carcinoma Intraductal Noninfiltrating	Stimulate	18765527
Carcinoma Non Small Cell Lung	Associate	32927648
Carcinoma Renal Cell	Associate	19396149, 20679884, 21602817, 22892601, 23355199, 24618616, 24696729, 27565001, 28415646, 29713041, 35980471, 37938323
Carcinoma Squamous Cell	Stimulate	21146373
Cardiovascular Diseases	Associate	22562303
Cartilage Diseases	Associate	11920402, 18511517
Cicatrix	Associate	16946716
Colorectal Neoplasms	Associate	30807603
Corneal dystrophy Avellino type	Inhibit	32667742
COVID 19	Associate	35305722
Craniopharyngioma	Associate	24934367
Deafness X Linked 1	Associate	21602817
Dental Plaque	Associate	19112034
Esophageal Squamous Cell Carcinoma	Associate	20430722
Femoral Fractures Distal	Associate	28328823
Fibrosis	Associate	40443657
Gaucher Disease	Associate	10961902
Genetic Diseases Inborn	Associate	18302508
Giant Cell Tumor of Bone	Associate	15277232
Giant Cell Tumors	Associate	15277232, 24059329
Glioblastoma	Associate	25356585, 28040478, 30046941, 30367810
Glioma	Associate	30367810
Granulomatosis with Polyangiitis	Associate	22905158
Growth Disorders	Associate	14753734, 24767306
HEM dysplasia	Associate	9529353
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18765527
Hip Fractures	Associate	21611976
Histiocytoma Benign Fibrous	Associate	16946716
HIV Infections	Associate	37404829
Hodgkin Disease	Associate	19773754
Hypertrophy	Associate	40443657
IgA Vasculitis	Associate	21880134
Inflammation	Stimulate	22562303
Inflammation	Associate	26760306, 35082271, 38221616
Keloid	Associate	16946716
Keratoderma Palmoplantar	Associate	23331396
Kidney Neoplasms	Associate	24228124, 30206412, 37938323
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	38221616
Lichen Planus Oral	Associate	37935734
Lung Diseases	Associate	22905158, 23483898
Lung Injury	Associate	32352655
Lymphangioleiomyomatosis	Associate	19060845, 28623674, 32352655, 32603599
Lymphatic Metastasis	Stimulate	29618339
Lymphoma Follicular	Associate	19773754
Melanoma	Associate	18368130, 24696729
Muscular Dystrophy Duchenne	Associate	34922439
Myocardial Infarction	Associate	22664813
Nasal Polyps	Stimulate	33005006
Neoplasm Metastasis	Associate	28085175, 36138018, 37198626, 37938323
Neoplasms	Associate	18765527, 23355199, 23951042, 24696729, 25550868, 26219353, 28085175, 29052596, 29618339, 30001237, 30046941, 32188406, 32927648, 34561551, 35848761, 36138018, 37198626, 37938323 View all (3 more)
Nephrosis Lipoid	Associate	26241216
Nevus Pigmented	Associate	24696729
Osteitis Deformans	Associate	19925894
Osteoarthritis	Associate	11920402, 18511517, 26241216, 30664745
Osteochondrodysplasias	Associate	14753734, 35466658
Osteolysis	Associate	15277232
Osteomyelitis	Associate	37370094
Osteopetrosis	Associate	15231021, 24269275
Osteoporosis	Associate	12039963, 21611976, 27859061, 8938428
Osteosclerosis	Associate	10491211, 14753734, 18302508
Penile Induration	Associate	31335242
Periprosthetic Fractures	Stimulate	34622431
Perivascular Epithelioid Cell Neoplasms	Associate	21874011, 24696729, 29052596
Phenylketonurias	Associate	40565238
Plaque Atherosclerotic	Associate	9691094
Popliteal Artery Aneurysm	Associate	20488324
Primary Myelofibrosis	Associate	30745304
Prostatic Neoplasms	Associate	12568399, 21804603, 38221616
Prostatic Neoplasms Castration Resistant	Associate	28085175
Prostatic Neoplasms Castration Resistant	Stimulate	36138018
Prostatitis	Associate	21804603, 26901495, 28085175
Pycnodysostosis	Associate	10491211, 10571690, 12039963, 18302508, 18975331, 19215700, 19674475, 21611976, 23331396, 24767306, 27558267, 28328823, 29390266, 30199612, 31944631 View all (8 more)
Pyruvate Carboxylase Deficiency Disease	Associate	36138018
Root Resorption	Associate	11596012
Rupture	Associate	17322367
Salivary Gland Neoplasms	Associate	37198626
Sarcoma Alveolar Soft Part	Associate	21602817, 23355199
Sclerosing bone dysplasia mental retardation	Associate	12039963
Skin Neoplasms	Associate	23951042
Spondylitis Ankylosing	Associate	18678577
Squamous Cell Carcinoma of Head and Neck	Associate	23951042, 29618339, 37356748
Status Asthmaticus	Associate	23483898
Tarlov Cysts	Stimulate	29618339
Tongue Neoplasms	Associate	23951042
Tooth Resorption	Associate	18975331
Translocation Genetic	Associate	21602817
Uniparental Disomy	Associate	9529353
Uniparental disomy of chromosome 2	Associate	9529353

CTSK (cathepsin K)