Gene table of CTSC : cathepsin C

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CTSC	OMIM link	Number of associated genes	genes
245010	HAIM-MUNK SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CTSC
245000	PAPILLON-LEFEVRE SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CTSC
170650	PERIODONTITIS, AGGRESSIVE, 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CTSC

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Lysosome	hsa04142	5.78

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Immune System	R-HSA-168256	2.37
Adaptive Immune System	R-HSA-1280218	3.19
MHC class II antigen presentation	R-HSA-2132295	6.01

Associated GO terms for Molecular function

GO term	GO ID	GO IC
serine-type endopeptidase activity	GO:0004252	4.4
endopeptidase activity	GO:0004175	3.63
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
molecular function regulator	GO:0098772	2.51
cysteine-type peptidase activity	GO:0008234	4.51
serine-type peptidase activity	GO:0008236	4.27
anion binding	GO:0043168	4.17
chaperone binding	GO:0051087	5.34
ion binding	GO:0043167	1.36
cysteine-type endopeptidase activity	GO:0004197	5.28
identical protein binding	GO:0042802	2.63
hydrolase activity	GO:0016787	1.9
serine hydrolase activity	GO:0017171	4.26
enzyme regulator activity	GO:0030234	2.85
peptidase regulator activity	GO:0061134	4.37
catalytic activity	GO:0003824	1.05
phosphatase binding	GO:0019902	4.63
protein self-association	GO:0043621	5.93
chloride ion binding	GO:0031404	8.13
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
protein binding	GO:0005515	0.46
peptidase activator activity	GO:0016504	6.13
peptidase activator activity involved in apoptotic process	GO:0016505	6.74
enzyme activator activity	GO:0008047	3.56