Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8492
Gene name	Serine protease 12
Gene symbol	PRSS12
Synonyms (NCBI Gene)	BSSP-3BSSP3MRT1
Chromosome	4
Chromosome location	4q26
Summary	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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs876657372	ACGT>-	Pathogenic	Frameshift variant, coding sequence variant

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
MIRT447151	hsa-miR-1238-5p	PAR-CLIP	22100165
MIRT447149	hsa-miR-4758-5p	PAR-CLIP	22100165
MIRT447150	hsa-miR-4658	PAR-CLIP	22100165
MIRT447148	hsa-miR-6790-5p	PAR-CLIP	22100165
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
MIRT447151	hsa-miR-1238-5p	PAR-CLIP	22100165
MIRT447149	hsa-miR-4758-5p	PAR-CLIP	22100165
MIRT447150	hsa-miR-4658	PAR-CLIP	22100165
MIRT447148	hsa-miR-6790-5p	PAR-CLIP	22100165
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
MIRT447151	hsa-miR-1238-5p	PAR-CLIP	22100165
MIRT447149	hsa-miR-4758-5p	PAR-CLIP	22100165
MIRT447150	hsa-miR-4658	PAR-CLIP	22100165
MIRT447148	hsa-miR-6790-5p	PAR-CLIP	22100165
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
MIRT447151	hsa-miR-1238-5p	PAR-CLIP	22100165
MIRT447149	hsa-miR-4758-5p	PAR-CLIP	22100165
MIRT447150	hsa-miR-4658	PAR-CLIP	22100165
MIRT447148	hsa-miR-6790-5p	PAR-CLIP	22100165
MIRT1268362	hsa-miR-190	CLIP-seq
MIRT1268363	hsa-miR-190b	CLIP-seq
MIRT1268364	hsa-miR-2110	CLIP-seq
MIRT1268365	hsa-miR-3148	CLIP-seq
MIRT1268366	hsa-miR-3649	CLIP-seq
MIRT1268367	hsa-miR-3661	CLIP-seq
MIRT1268368	hsa-miR-3935	CLIP-seq
MIRT1268369	hsa-miR-411	CLIP-seq
MIRT1268370	hsa-miR-4271	CLIP-seq
MIRT1268371	hsa-miR-4310	CLIP-seq
MIRT1268372	hsa-miR-4667-5p	CLIP-seq
MIRT1268373	hsa-miR-4668-5p	CLIP-seq
MIRT1268374	hsa-miR-4700-5p	CLIP-seq
MIRT1268375	hsa-miR-4725-3p	CLIP-seq
MIRT1268376	hsa-miR-4747-5p	CLIP-seq
MIRT1268377	hsa-miR-492	CLIP-seq
MIRT1268378	hsa-miR-520d-5p	CLIP-seq
MIRT1268379	hsa-miR-524-5p	CLIP-seq
MIRT1268380	hsa-miR-548c-3p	CLIP-seq
MIRT1268381	hsa-miR-561	CLIP-seq
MIRT1268382	hsa-miR-631	CLIP-seq
MIRT1268364	hsa-miR-2110	CLIP-seq
MIRT1268366	hsa-miR-3649	CLIP-seq
MIRT1268367	hsa-miR-3661	CLIP-seq
MIRT1268370	hsa-miR-4271	CLIP-seq
MIRT2078856	hsa-miR-4533	CLIP-seq
MIRT2078857	hsa-miR-4661-3p	CLIP-seq
MIRT1268372	hsa-miR-4667-5p	CLIP-seq
MIRT1268374	hsa-miR-4700-5p	CLIP-seq
MIRT1268375	hsa-miR-4725-3p	CLIP-seq
MIRT1268376	hsa-miR-4747-5p	CLIP-seq
MIRT1268377	hsa-miR-492	CLIP-seq
MIRT2078858	hsa-miR-607	CLIP-seq
MIRT1268382	hsa-miR-631	CLIP-seq
MIRT2305122	hsa-miR-1238	CLIP-seq
MIRT2305123	hsa-miR-140-3p	CLIP-seq
MIRT1268364	hsa-miR-2110	CLIP-seq
MIRT2305124	hsa-miR-330-3p	CLIP-seq
MIRT2305125	hsa-miR-3614-5p	CLIP-seq
MIRT1268366	hsa-miR-3649	CLIP-seq
MIRT1268367	hsa-miR-3661	CLIP-seq
MIRT2305126	hsa-miR-3673	CLIP-seq
MIRT1268370	hsa-miR-4271	CLIP-seq
MIRT2305127	hsa-miR-4328	CLIP-seq
MIRT2078856	hsa-miR-4533	CLIP-seq
MIRT2305128	hsa-miR-4653-3p	CLIP-seq
MIRT2078857	hsa-miR-4661-3p	CLIP-seq
MIRT1268372	hsa-miR-4667-5p	CLIP-seq
MIRT1268374	hsa-miR-4700-5p	CLIP-seq
MIRT1268375	hsa-miR-4725-3p	CLIP-seq
MIRT1268376	hsa-miR-4747-5p	CLIP-seq
MIRT1268377	hsa-miR-492	CLIP-seq
MIRT2305129	hsa-miR-548p	CLIP-seq
MIRT1268382	hsa-miR-631	CLIP-seq
MIRT2393112	hsa-miR-4720-5p	CLIP-seq
MIRT2393113	hsa-miR-4799-3p	CLIP-seq
MIRT2602247	hsa-miR-1206	CLIP-seq

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
GO:0006508	Process	Proteolysis	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	9540828
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031638	Process	Zymogen activation	IEA
GO:0043083	Component	Synaptic cleft	IBA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0043195	Component	Terminal bouton	IEA
GO:0045202	Component	Synapse	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IDA	12459588
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	12459588
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
606709	9477	ENSG00000164099

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

149

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability, autosomal recessive 1	Likely pathogenic	rs760638778	RCV002221895

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2292598	RCV005889233
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs144853134	RCV005892358
Cervical cancer	Uncertain significance; Benign	rs147303693, rs2292598	RCV005922689 RCV005889235
Colon adenocarcinoma	Benign	rs2292598	RCV005889232
Gastric cancer	Uncertain significance	rs147303693	RCV005922690
Hepatocellular carcinoma	Uncertain significance	rs147303693	RCV005922688
Intellectual Disability, Recessive	Benign; Likely benign; Uncertain significance	rs28661939, rs17594503, rs553222667, rs886059033, rs3083027, rs886059027, rs3215324, rs116781486	RCV000272402 RCV000313428 RCV000378986 RCV000338638 RCV000355255 RCV000328319 RCV000375329 RCV000358261
Long QT syndrome	Likely benign	rs796052154	RCV000190143
Lung cancer	Benign; Likely benign	rs144853134	RCV005892359
Malignant tumor of esophagus	Benign	rs2292598	RCV005889234
PRSS12-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs753349424, rs2292598, rs145151396, rs34131974, rs773851843, rs188253418, rs763158980, rs757909956, rs146677360	RCV003963222 RCV003964987 RCV003927805 RCV003932411 RCV003912089 RCV003977208 RCV003957000 RCV003927400 RCV003940707
Thymoma	Benign	rs2292598	RCV005889236

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

PRSS12 (serine protease 12)