ENSG00000100053


Homo sapiens

Features
Gene ID: ENSG00000100053
  
Biological name :CRYBB3
  
Synonyms : CRYBB3 / crystallin beta B3 / P26998
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q11.23
Gene start: 25199850
Gene end: 25207363
  
Corresponding Affymetrix probe sets: 207685_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386123
Ensembl peptide - ENSP00000215855
NCBI entrez gene - 1417     See in Manteia.
OMIM - 123630
RefSeq - XM_017028599
RefSeq - NM_004076
RefSeq - XM_011529902
RefSeq Peptide - NP_004067
swissprot - P26998
swissprot - B1AHR5
Ensembl - ENSG00000100053
  
Related genetic diseases (OMIM): 609741 - Cataract 22, 609741
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
 crybb3ENSDARG00000041301Danio rerio
 CRYBB3ENSGALG00000005515Gallus gallus
 Crybb3ENSMUSG00000029352Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CRYBB2 / P43320 / crystallin beta B2ENSG0000024475254
CRYBB1 / P53674 / crystallin beta B1ENSG0000010012253
CRYBA1 / P05813 / crystallin beta A1ENSG0000010825540
CRYBA2 / P53672 / crystallin beta A2ENSG0000016349939
CRYBA4 / P53673 / crystallin beta A4ENSG0000019643137
CRYGC / P07315 / crystallin gamma CENSG0000016325430
CRYGS / P22914 / crystallin gamma SENSG0000021313930
CRYGD / P07320 / crystallin gamma DENSG0000011823129
CRYGA / P11844 / crystallin gamma AENSG0000016858229
CRYGB / P07316 / crystallin gamma BENSG0000018218727
CRYGN / Q8WXF5 / crystallin gamma NENSG0000012737725


Protein motifs (from Interpro)
Interpro ID Name
 IPR001064  Beta/gamma crystallin
 IPR011024  Gamma-crystallin-like
 IPR033115  Beta-crystallin B3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception IEA
 molecular_functionGO:0005212 structural constituent of eye lens IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 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: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:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0100018 Nuclear cataract "A nuclear cataract is an opacity or clouding that develops in the `lens nucleus` (FMA:58971). That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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