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 |
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 |
|
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 |
|
Sequence length |
329 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 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, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 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, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 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) |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
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 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
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, 32248673, 33429075, 33670411, 34680947, 35315254, 39684735, 8938428, 9529353 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 |
|