ENSG00000237412


Homo sapiens

Features
Gene ID: ENSG00000237412
  
Biological name :PRSS56
  
Synonyms : P0CW18 / PRSS56 / serine protease 56
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q37.1
Gene start: 232520463
Gene end: 232525716
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000473410
Ensembl peptide - ENSP00000479745
NCBI entrez gene - 646960     See in Manteia.
OMIM - 613858
RefSeq - NM_001195129
RefSeq Peptide - NP_001182058
swissprot - P0CW18
swissprot - R4GMZ0
Ensembl - ENSG00000237412
  
Related genetic diseases (OMIM): 613517 - Microphthalmia, isolated 6, 613517
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)
Ortholog nameID Species
 prss56ENSDARG00000053158Danio rerio
 PRSS56ENSGALG00000045413Gallus gallus
 F2YMG0ENSMUSG00000036480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACR / P10323 / acrosinENSG0000010031220
O60235 / TMPRSS11D / transmembrane serine protease 11DENSG0000015380219
Q6ZWK6 / TMPRSS11F / transmembrane serine protease 11FENSG0000019809218
Q9UL52 / TMPRSS11E / transmembrane serine protease 11EENSG0000008712817
Q86WS5 / TMPRSS12 / transmembrane serine protease 12ENSG0000018645217
Q6ZMR5 / TMPRSS11A / transmembrane serine protease 11AENSG0000018705417
Q86T26 / TMPRSS11B / transmembrane serine protease 11BENSG0000018587316
CFI / P05156 / complement factor IENSG0000020540315
AC126283.2ENSG0000028533012


Protein motifs (from Interpro)
Interpro ID Name
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR009003  Peptidase S1, PA clan
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR033116  Serine proteases, trypsin family, serine active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis ISS
 biological_processGO:0043010 camera-type eye development IMP
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 molecular_functionGO:0004252 serine-type endopeptidase activity ISS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000610 Abnormality of the choroid 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0008499 High-grade hypermetropia 
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 HP:0030823 Scleral thickening "Increased dimension of the sclera in the anterior-posterior axis." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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