TMPRSS4 (transmembrane serine protease 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 56649
Gene name Transmembrane serine protease 4
Gene symbol TMPRSS4
Synonyms (NCBI Gene)
CAP2CAPH2MT-SP2TMPRSS3
Chromosome 11
Chromosome location 11q23.3
Summary This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pa
miRNA miRNA information provided by mirtarbase database.
74
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (74)
miRTarBase ID miRNA Experiments Reference
MIRT716037 hsa-miR-543 HITS-CLIP 19536157
MIRT716036 hsa-miR-6736-3p HITS-CLIP 19536157
MIRT716035 hsa-miR-6787-3p HITS-CLIP 19536157
MIRT716034 hsa-miR-875-3p HITS-CLIP 19536157
MIRT716033 hsa-miR-6128 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity NAS 10825129
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 24434139
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606565 11878 ENSG00000137648
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRS4
Protein name Transmembrane protease serine 4 (EC 3.4.21.-) (Channel-activating protease 2) (CAPH2) (Membrane-type serine protease 2) (MT-SP2) [Cleaved into: Transmembrane protease serine 4 catalytic chain]
Protein function Plasma membrane-anchored serine protease that directly induces processing of pro-uPA/PLAU into the active form through proteolytic activity (PubMed:24434139). Seems to be capable of activating ENaC (By similarity). {ECO:0000250|UniProtKB:Q8VCA5,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15494 SRCR_2 108 → 200 Scavenger receptor cysteine-rich domain Domain
PF00089 Trypsin 205 → 429 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: High levels in pancreatic, gastric, colorectal and ampullary cancer. Very weak expression in normal gastrointestinal and urogenital tract (PubMed:10825129). Coexpressed with ACE2 within mature enterocytes (PubMed:32404436). {ECO:000026
Sequence
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Influenza A  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (2)
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
AUTOSOMAL RECESSIVE CEREBRAL ATROPHY — Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (101)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22067904, 22692880
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19949890, 26722035, 29750426
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 24132607
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26993610
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 34198852 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 29752398
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 23957953 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 39766876 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal recessive cerebral atrophy Cerebral Atrophy ORPHANET_DG 23957953
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive cerebral atrophy Cerebral Atrophy Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations