CST4 (cystatin S)

Gene

• Entrez ID: 1472
• Gene name: Cystatin S
• Gene symbol: CST4
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017577	hsa-miR-335-5p	Microarray	18185580
MIRT736215	hsa-miR-6715b-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC)	34194498
MIRT913343	hsa-miR-3065-5p	CLIP-seq
MIRT913344	hsa-miR-3173-5p	CLIP-seq
MIRT913345	hsa-miR-339-3p	CLIP-seq
MIRT913346	hsa-miR-370	CLIP-seq
MIRT913347	hsa-miR-4663	CLIP-seq
MIRT2206619	hsa-miR-134	CLIP-seq
MIRT2206620	hsa-miR-139-5p	CLIP-seq
MIRT2206621	hsa-miR-3118	CLIP-seq
MIRT2206622	hsa-miR-3164	CLIP-seq
MIRT2206623	hsa-miR-4300	CLIP-seq
MIRT2206624	hsa-miR-4447	CLIP-seq
MIRT2206625	hsa-miR-4472	CLIP-seq
MIRT2206626	hsa-miR-4488	CLIP-seq
MIRT2206627	hsa-miR-455-3p	CLIP-seq
MIRT2206628	hsa-miR-4651	CLIP-seq
MIRT2206629	hsa-miR-4685-5p	CLIP-seq
MIRT2206630	hsa-miR-4697-5p	CLIP-seq
MIRT2206631	hsa-miR-608	CLIP-seq
MIRT2206632	hsa-miR-920	CLIP-seq

Gene ontology (GO)

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	IDA	3488317, 8999869
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	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	3488317, 24248522
GO:0005737	Component	Cytoplasm	IBA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031982	Component	Vesicle	IBA
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 123857
• HGNC: 2476
• e!Ensembl: ENSG00000101441

Protein

• UniProt ID: P01036
• Protein name: Cystatin-S (Cystatin-4) (Cystatin-SA-III) (Salivary acidic protein 1)
• Protein function: This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively.
• 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 saliva, tears, urine and seminal fluid. {ECO:0000269|PubMed:20189825}.
• Sequence:

  MARPLCTLLLLMATLAGALASSSKEENRIIPGGIYDADLNDEWVQRALHFAISEYNKATE
  DEYYRRPLQVLRAREQTFGGVNYFFDVEVGRTICTKSQPNLDTCAFHEQPELQKKQLCSF
  EIYEVPWEDRMSLVNSRCQEA

• Sequence length: 141

Pathways

KEGG:

Salivary secretion

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	28933920		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28933920	Stimulate	★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	28339625		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29636621		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37122229	Stimulate	★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	18804197	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	37797812	Stimulate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23533003	Inhibit	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	34012227	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	30804658		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	21701529	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	24194634	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	30804658		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29636621		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29218251, 29636621		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	18804197	Associate	★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	28339625		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35740863	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29218251, 29636621		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28339625		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35393513	Associate	★☆☆☆☆ Found in Text Mining only