Gene Gene information from NCBI Gene database.
Entrez ID 64063
Gene name Serine protease 22
Gene symbol PRSS22
Synonyms (NCBI Gene)
BSSP-4SP001LAhBSSP-4
Chromosome 16
Chromosome location 16p13.3
Summary This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
77
miRTarBase ID miRNA Experiments Reference
MIRT021776 hsa-miR-132-3p Microarray 17612493
MIRT700594 hsa-miR-98-5p HITS-CLIP 23313552
MIRT700593 hsa-miR-4500 HITS-CLIP 23313552
MIRT700592 hsa-miR-4458 HITS-CLIP 23313552
MIRT700591 hsa-let-7g-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IDA 11602603
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 11602603
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609343 14368 ENSG00000005001
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZN4
Protein name Brain-specific serine protease 4 (BSSP-4) (EC 3.4.21.-) (Serine protease 22) (Serine protease 26) (Tryptase epsilon)
Protein function Preferentially cleaves the synthetic substrate H-D-Leu-Thr-Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 50 285 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed abundantly in the epithelial cells of the airways, including trachea, esophagus and fetal lung. Scarce in adult lung. Expressed at low levels in placenta, pancreas, prostate and thyroid gland. {ECO:0000269|PubMed:11602603}.
Sequence
Sequence length 317
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ERYTHEMATOSQUAMOUS DERMATOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 36414640
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Stimulate 36414640
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 36414640
★☆☆☆☆
Found in Text Mining only