PRSS12 (serine protease 12)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8492
Gene name Gene Name - the full gene name approved by the HGNC.
Serine protease 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRSS12
Synonyms (NCBI Gene) Gene synonyms aliases
BSSP-3, BSSP3, MRT1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q26
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes r
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs876657372 ACGT>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(93)
miRTarBase ID miRNA Experiments Reference
MIRT447156 hsa-miR-4802-3p PAR-CLIP 22100165
MIRT447155 hsa-miR-648 PAR-CLIP 22100165
MIRT447154 hsa-miR-574-5p PAR-CLIP 22100165
MIRT447153 hsa-miR-3659 PAR-CLIP 22100165
MIRT447152 hsa-miR-526b-5p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
GO:0006508 Process Proteolysis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606709 9477 ENSG00000164099
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P56730
Protein name Neurotrypsin (EC 3.4.21.-) (Leydin) (Motopsin) (Serine protease 12)
Protein function Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00051 Kringle 97 → 167 Kringle domain Domain
PF00530 SRCR 173 → 270 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 283 → 380 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 390 → 486 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 503 → 600 Scavenger receptor cysteine-rich domain Domain
PF00089 Trypsin 631 → 869 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Brain and Leydig cells of the testis.
Sequence 
MTLARFVLALMLGALPEVVGFDSVLNDSLHHSHRHSPPAGPHYPYYLPTQQRPPRTRPPP
PLPRFPRPPRALPAQRPHALQAGHTPRPHPWGCPAGEPWVSVTDFGAPCLRWAEVPPFLE
RSPPASWAQLRGQRHNFCRSPDGAGRPWCFYGDARGKVDWGYCDCRHGSVRLRGGKNEFE
GTVEVYASGVWGTVCSSHWDDSDASVICHQLQLGGKGIAKQTPFSGLGLIPIYWSNVRCR
GDEENILLCEKDIWQGGVCPQKMAAAVTCSFSHGPTFPIIRLAGGSSVHEGRVELYHAGQ
WGTVCDDQWDDADAEVICRQLGLSGIAKAWHQAYFGEGSGPVMLDEVRCTGNELSIEQCP
KSSWGEHNCGHKEDAGVSCTPLTDGVIRLAGGKGSHEGRLEVYYRGQWGTVCDDGWTELN
TYVVCRQLGFKYGKQASANHFEESTGPIWLDDVSCSGKETRFLQCSRRQWGRHDCSHRED
VSIACYPGGEGHRLSLGFPVRLMDGENKKEGRVEVFINGQWGTICDDGWTDKDAAVICRQ
LGYKGPARARTMAYFGEGKGPIHVDNVKCTGNERSLADCIKQDIGRHNCRHSEDAGVICD
YFGKKASGNSNKESLSSVCGLRLLHRRQKRIIGGKNSLRGGWPWQVSLRLKSSHGDGRLL
CGATLLSSCWVLTAAHCFKRYGNSTRSYAVRVGDYHTLVPEEFEEEIGVQQIVIHREYRP
DRSDYDIALVRLQGPEEQCARFSSHVLPACLPLWRERPQKTASNCYITGWGDTGRAYSRT
LQQAAIPLLPKRFCEERYKGRFTGRMLCAGNLHEHKRVDSCQGDSGGPLMCERPGESWVV
YGVTSWGYGCGVKDSPGVYTKVSAFVPWIKSVTKL
Sequence length 875
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Mental retardation Intellectual disability, autosomal recessive 1, Intellectual Disability, Recessive, non-syndromic intellectual disability N/A N/A ClinVar, GenCC
Restless Legs Syndrome Restless legs syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 27737314
Cerebral Palsy Associate 34580524
Inflammation Associate 22606348
Intellectual Disability Associate 16033914
Mental Retardation Autosomal Recessive 4 Associate 34580524
Mental Retardation X Linked Nonsyndromic Associate 18452889
Psychological Trauma Associate 34580524