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Gene : PRSS12 Homo sapiens

Name  ? serine protease 12 Cytological Location  4q26
Brief Description  serine protease 12
Description  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 referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]
  • synonyms:
  • NM_003619,
  • BSSP-3,
  • BSSP-3,
  • neurotrypsin,
  • protease, serine 12,
  • MRT1,
  • BSSP3,
  • PRSS12,
  • HGNC:9477,
  • motopsin,
  • uc003ica.3,
  • mental retardation, autosomal recessive 1,
  • brain-specific serine protease 3,
  • AJ001531,
  • OTTHUMG00000161166,
  • MRT1
  • identifiers:
  • 8492,
  • ENSG00000164099,
  • PRSS12

Genome feature

Region: gene ? Length: 73005  
Location: 4:118280038-118353042 reverse strand Cyto location: 4q26


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

19 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results