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
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
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
PF01390 SEA 108 214 SEA domain Family
PF00431 CUB 247 357 CUB domain Domain
PF00431 CUB 365 470 CUB domain Domain
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
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, ovary, testis, salivary gland, trachea and lung. {ECO:0000269|PubMed:15853774}.
Sequence
MDKENSDVSAAPADLKISNISVQVVSAQKKLPVRRPPLPGRRLPLPGRRPPQRPIGKAKP
KKQSKKKVPFWNVQNKIILFTVFLFILAVIAWTLLWLYISKTESKDAFYFAGMFRITNIE
FLPEYRQKESREFLSVSRTVQQVINLVYTTSAFSKFYEQSVVADVSSNNKGGLLVHFWIV
FVMPRAKGHIFCEDCVAAILKDSIQTSIINRTSV
GSLQGLAVDMDSVVLNAGLRSDYSST
IGSDKGCSQYFYAEHLSLHYPLEISAASGRLMCHFKLVAIVGYLIRLSIKSIQIEADNCV
TDSLTIYDSLLPIRSSILYRICEPTRTLMSFVSTNNLMLVTFKSPHIRRLSGIRAYF
EVI
PEQKCENTVLVKDITGFEGKISSPYYPSYYPPKCKCTWKFQTSLSTLGIALKFYNYSITK
KSMKGCEHGWWEINEHMYCGSYMDHQTIFRVPSPLVHIQLQCSSRLSDKP
LLAEYGSYNI
SQPCPVGSFRCSSGLCVPQAQRCDGVNDCFDESDELFCVSPQPACNTSSFRQHGPLICDG
FRDCENGRDEQNCTQSIPCNNRTFKCGNDICFRKQNAKCDGTVDCPDGSDEEGCTCSRSS
SALHRIIGGTDTLEGGWPWQVSLHFVGSAYCGASVISREWLLSAAHCFHGNRLSDPTPWT
AHLGMYVQGNAKFVSPVRRIVVHEYYNSQTFDYDIALLQLSIAWPETLKQLIQPICIPPT
GQRVRSGEKCWVTGWGRRHEADNKGSLVLQQAEVELIDQTLCVSTYGIITSRMLCAGIMS
GKRDACKGDSGGPLSCRRKSDGKWILTGIVSWGHGSGRPNFPGVYTRVSNFVPWI
HKYVP
SLL
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 Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS 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 25029565
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 28487959
★☆☆☆☆
Found in Text Mining only