ENSG00000164099
Homo sapiens activity PRSS12 domain serine peptidase proteases trypsin family site kringle s srcr-like active membrane serine-type srcr chymotrypsin pa clan kringle-like fold conserved histidine superfamily proteolysis exocytosis receptor-mediated endocytosis zymogen activation extracellular
Features Gene ID: ENSG00000164099 Biological name :PRSS12 Synonyms : P56730 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 4 Strand: -1 Band: q26 Gene start: 118280038 Gene end: 118353003 Corresponding Affymetrix probe sets: 205515_at (Human Genome U133 Plus 2.0 Array) 213802_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000002964988492
See in Manteia .
606709 NM_003619 NP_003610 P56730 ENSG00000164099 Related genetic diseases (OMIM): 249500 - Mental retardation, autosomal recessive 1, 249500
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl )Protein motifs (from Interpro )Gene Ontology (GO ) nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic process primary metabolic process organic substance metabolic process establishment of localization nitrogen compound metabolic processnitrogen compound metabolic process primary metabolic processprimary metabolic process organic substance metabolic processorganic substance metabolic process establishment of localizationestablishment of localization catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a protein hydrolase activity scavenger receptor activity catalytic activity, acting on a proteincatalytic activity, acting on a protein hydrolase activityhydrolase activity scavenger receptor activityscavenger receptor activity extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular region cell membrane organelle synapse extracellular regionextracellular region cellcell membranemembrane organelleorganelle synapsesynapse
Pathways (from Reactome )No match Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritance Abnormality of the eyes Neurological abnormality Autosomal recessive inheritanceAutosomal recessive inheritance Abnormality of the eyesAbnormality of the eyes Neurological abnormalityNeurological abnormality HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show HP:0001249 Mental retardation
Show HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
Show HP:0006801 Hyperactive deep tendon reflexes
Show
Interacting proteins (from Reactome )No match
0 s.
