Gene Gene information from NCBI Gene database.
Entrez ID 283471
Gene name Transmembrane serine protease 12
Gene symbol TMPRSS12
Synonyms (NCBI Gene)
CT151
Chromosome 12
Chromosome location 12q13.12
miRNA miRNA information provided by mirtarbase database.
100
miRTarBase ID miRNA Experiments Reference
MIRT016740 hsa-miR-335-5p Microarray 18185580
MIRT689698 hsa-miR-4761-5p HITS-CLIP 23313552
MIRT689697 hsa-miR-3614-5p HITS-CLIP 23313552
MIRT689696 hsa-miR-6500-3p HITS-CLIP 23313552
MIRT689695 hsa-miR-1288-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IBA
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0001675 Process Acrosome assembly IEA
GO:0001675 Process Acrosome assembly ISS
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.
Q86WS5
Protein name Transmembrane protease serine 12 (EC 3.4.21.-)
Protein function Required for male fertility (By similarity). Plays a critical role in sperm capacitation and acrosome reactions during fertilization, and also plays a role in the regulation of proteins involved in spermatogenesis (By similarity). Regulates prot
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 78 313 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: In testis, expressed in spermatocytes and spermatids (at protein level). {ECO:0000269|PubMed:23436708}.
Sequence
Sequence length 348
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
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
Colorectal Neoplasms Colorectal neoplasm Pubtator 39208330 Associate
★☆☆☆☆
Found in Text Mining only
Testicular Neoplasms Testicular neoplasm Pubtator 39208330 Associate
★☆☆☆☆
Found in Text Mining only