Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1470
Gene name	Cystatin SA
Gene symbol	CST2
Synonyms (NCBI Gene)	-
Chromosome	20
Chromosome location	20p11.21
Summary	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018818	hsa-miR-335-5p	Microarray	18185580
MIRT030133	hsa-miR-26b-5p	Microarray	19088304
MIRT913282	hsa-miR-1253	CLIP-seq
MIRT913283	hsa-miR-1321	CLIP-seq
MIRT913284	hsa-miR-3173-3p	CLIP-seq
MIRT913285	hsa-miR-331-3p	CLIP-seq
MIRT913286	hsa-miR-3616-3p	CLIP-seq
MIRT913287	hsa-miR-4419a	CLIP-seq
MIRT913288	hsa-miR-4436b-3p	CLIP-seq
MIRT913289	hsa-miR-4510	CLIP-seq
MIRT913290	hsa-miR-4533	CLIP-seq
MIRT913291	hsa-miR-4685-5p	CLIP-seq
MIRT913292	hsa-miR-4712-3p	CLIP-seq
MIRT913293	hsa-miR-4728-5p	CLIP-seq
MIRT913294	hsa-miR-4739	CLIP-seq
MIRT913295	hsa-miR-4756-5p	CLIP-seq
MIRT913296	hsa-miR-4779	CLIP-seq
MIRT913297	hsa-miR-548p	CLIP-seq
MIRT2206616	hsa-miR-4447	CLIP-seq
MIRT2206617	hsa-miR-4472	CLIP-seq
MIRT913291	hsa-miR-4685-5p	CLIP-seq
MIRT2509961	hsa-miR-3936	CLIP-seq
MIRT2509962	hsa-miR-4266	CLIP-seq
MIRT2509963	hsa-miR-4651	CLIP-seq
MIRT2509964	hsa-miR-4695-5p	CLIP-seq
MIRT913296	hsa-miR-4779	CLIP-seq
MIRT2509965	hsa-miR-608	CLIP-seq
MIRT2509966	hsa-miR-624	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001580	Process	Detection of chemical stimulus involved in sensory perception of bitter taste	IDA	24248522
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	TAS	3446578
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	24248522
GO:0005737	Component	Cytoplasm	IBA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031982	Component	Vesicle	IBA

MIM	HGNC	e!Ensembl
123856	2474	ENSG00000170369

P09228

Protein name

Cystatin-SA (Cystatin-2) (Cystatin-S5)

Protein function

Thiol protease inhibitor.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00031	Cystatin	32 → 127	Cystatin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in submandibular gland and parotid gland. {ECO:0000269|PubMed:11879580, ECO:0000269|PubMed:20189825}.

Sequence

MAWPLCTLLLLLATQAVALAWSPQEEDRIIEGGIYDADLNDERVQRALHFVISEYNKATE
DEYYRRLLRVLRAREQIVGGVNYFFDIEVGRTICTKSQPNLDTCAFHEQPELQKKQLCSF
QIYEVPWEDRMSLVNSRCQEA

Sequence length

141

Interactions

View interactions

KEGG Pathway
Salivary secretion

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (16)
Asthma	Asthma	Pubtator	28933920	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31322841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31182966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31115549	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	31322841, 31430426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31174096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31174096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	16969154, 17986150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	21701529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12956427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12956427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31174096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31376183, 34777331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15138478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36044785, 37061682, 39926600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with CST2 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for CST2.

Diseases Linked via Similar Genes Diseases curated for genes most similar to CST2 (see Related Genes above), that are NOT already directly curated for CST2 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to CST2.

CST2 (cystatin SA)

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