ENSG00000148204


Homo sapiens

Features
Gene ID: ENSG00000148204
  
Biological name :CRB2
  
Synonyms : CRB2 / crumbs 2, cell polarity complex component / Q5IJ48
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q33.3
Gene start: 123356170
Gene end: 123380324
  
Corresponding Affymetrix probe sets: 1552506_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000353092
Ensembl peptide - ENSP00000362734
Ensembl peptide - ENSP00000435279
NCBI entrez gene - 286204     See in Manteia.
OMIM - 609720
RefSeq - XM_011518558
RefSeq - NM_173689
RefSeq - XM_011518556
RefSeq - XM_011518557
RefSeq - XM_005251934
RefSeq Peptide - NP_775960
swissprot - Q5IJ48
Ensembl - ENSG00000148204
  
Related genetic diseases (OMIM): 219730 - Ventriculomegaly with cystic kidney disease, 219730
  616220 - Focal segmental glomerulosclerosis 9, 616220
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
 crb2aENSDARG00000060106Danio rerio
 crb2bENSDARG00000060081Danio rerio
 CRB2ENSGALG00000001169Gallus gallus
 2 ENSMUSG00000035403Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CRB1 / P82279 / crumbs 1, cell polarity complex componentENSG0000013437634
SLIT1 / O75093 / slit guidance ligand 1ENSG0000018712217
SLIT3 / O75094 / slit guidance ligand 3ENSG0000018434717
SLIT2 / O94813 / slit guidance ligand 2ENSG0000014514717
DNER / Q8NFT8 / delta/notch like EGF repeat containingENSG0000018795715
DLL3 / Q9NYJ7 / delta like canonical Notch ligand 3ENSG0000009093212
DLK2 / Q6UY11 / delta like non-canonical Notch ligand 2ENSG000001714629
DLK1 / P80370 / delta like non-canonical Notch ligand 1ENSG000001855599


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR001881  EGF-like calcium-binding domain
 IPR013032  EGF-like, conserved site
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR018097  EGF-like calcium-binding, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001707 mesoderm formation ISS
 biological_processGO:0001756 somitogenesis ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007369 gastrulation IEA
 biological_processGO:0010470 regulation of gastrulation ISS
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition ISS
 biological_processGO:0010951 negative regulation of endopeptidase activity IMP
 biological_processGO:0014028 notochord formation ISS
 biological_processGO:0030513 positive regulation of BMP signaling pathway ISS
 biological_processGO:0045199 maintenance of epithelial cell apical/basal polarity ISS
 biological_processGO:0055111 ingression involved in gastrulation with mouth forming second ISS
 biological_processGO:0072358 cardiovascular system development ISS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0045121 membrane raft IC
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0019828 aspartic-type endopeptidase inhibitor activity IMP
 molecular_functionGO:0019899 enzyme binding IMP


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:0000083 Renal failure 
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 HP:0000097 Focal segmental glomerulosclerosis 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000108 Corticomedullary cysts 
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 HP:0000238 Hydrocephalus 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001561 Polyhydramnios 
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 HP:0001622 Premature birth 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0003577 Onset at birth 
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 HP:0100259 Postaxial polydactyly "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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