CST2 cystatin SA [Homo sapiens (human)] - Gene

Summary

Official Symbol: CST2provided by HGNC
Official Full Name: cystatin SAprovided by HGNC
Primary source: HGNC:HGNC:2474
See related: Ensembl:ENSG00000170369 MIM:123856; AllianceGenome:HGNC:2474
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward salivary gland (RPKM 1475.8) See more
Orthologs: all
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Genomic context

Location:: 20p11.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (23823769..23826729, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (23883461..23886421, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (23804406..23807366, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cystatin 2 leads to a worse prognosis in patients with gastric cancer.
Title: Cystatin 2 leads to a worse prognosis in patients with gastric cancer.
tumor biomarker cystatin 2 as part of a four gene transcript score has prognostic value for metastatic-lethal progression in men treated for localized prostate cancer
Title: A four-gene transcript score to predict metastatic-lethal progression in men treated for localized prostate cancer: Development and validation studies.
interactions of human family 1 & 2 cystatins with cathepsin L1
Title: Structural Dynamics Investigation of Human Family 1 & 2 Cystatin-Cathepsin L1 Interaction: A Comparison of Binding Modes.
This data suggests an autoimmune mechanism behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type I and provides rationale for evaluating cystatin SA1 in antifungal therapy.
Title: Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1.
Identification of cystatin SA as a novel inhibitor of acid ceramidase.
Title: Identification of cystatin SA as a novel inhibitor of acid ceramidase.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
Title: Sac I Restriction Fragment Length Polymorphism (RFLP) related to the human CST2 gene.
Murine monoclonal antibodies were made which can distinguish between CST1 and CST2.
Title: Murine monoclonal antibody which can distinguish cystatins SA1 and SA2.
cystatins SA1 and SA2 adhere to human fibroblasts and that the event results in tyrosine phosphorylation and upregulation of the release of IL-6 mediated enhancement of NF-kappa B activity.
Title: Salivary cystatins induce interleukin-6 expression via cell surface molecules in human gingival fibroblasts.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cystatin-SA

Names: cystatin 2; cystatin S5; cysteine-proteinase inhibitor; salivary cysteine (thiol) protease inhibitor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.