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Gene Gene information from NCBI Gene database.
Entrez ID 344805
Gene name Transmembrane serine protease 7
Gene symbol TMPRSS7
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q13.2
miRNA miRNA information provided by mirtarbase database.
20 Show/Hide all (20)
miRTarBase ID miRNA Experiments Reference
MIRT1441189 hsa-miR-1193 CLIP-seq
MIRT1441190 hsa-miR-1913 CLIP-seq
MIRT1441191 hsa-miR-192 CLIP-seq
MIRT1441192 hsa-miR-197 CLIP-seq
MIRT1441193 hsa-miR-215 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12 Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7RTY8
Protein name Transmembrane protease serine 7 (EC 3.4.21.-) (Matriptase-3)
Protein function Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 482 → 518 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 557 → 594 Low-density lipoprotein receptor domain class A Repeat
PF00089 Trypsin 606 → 835 Trypsin Domain
PF00431 CUB 365 → 470 CUB domain Domain
PF00431 CUB 247 → 357 CUB domain Domain
PF01390 SEA 108 → 214 SEA domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, ovary, testis, salivary gland, trachea and lung. {ECO:0000269|PubMed:15853774}.
Sequence
Sequence length 843
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Reference Evidence Score
ASTHMA — GWAS catalog 35472084
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — GWAS catalog 35472084
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 25029565
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25029565 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 28487959 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 25029565
★★★★★
★☆☆☆☆
Found in Text Mining only