PRSS12 (serine protease 12)

Gene

• Entrez ID: 8492
• Gene name: Serine protease 12
• Gene symbol: PRSS12
• Synonyms (NCBI Gene): BSSP-3, BSSP3, MRT1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 606709
• HGNC: 9477
• e!Ensembl: ENSG00000164099

Protein

• 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual disability, autosomal recessive 1	Likely pathogenic	rs760638778	RCV002221895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability, Recessive	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC INTELLECTUAL DISABILITY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRSS12-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27737314	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	27737314		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	34580524	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12459588, 16902143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	LHGDN	12459588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	16033914	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	12459588, 16902143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	GENOMICS_ENGLAND_DG	12459588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	BEFREE	28934497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	17586728, 30233183		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only