ENSG00000163499


Homo sapiens

Features
Gene ID: ENSG00000163499
  
Biological name :CRYBA2
  
Synonyms : CRYBA2 / crystallin beta A2 / P53672
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q35
Gene start: 218990189
Gene end: 218993421
  
Corresponding Affymetrix probe sets: 220136_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000295728
Ensembl peptide - ENSP00000395120
Ensembl peptide - ENSP00000375946
NCBI entrez gene - 1412     See in Manteia.
OMIM - 600836
RefSeq - NM_057093
RefSeq - NM_057094
RefSeq Peptide - NP_476434
RefSeq Peptide - NP_476435
swissprot - P53672
swissprot - A0A024R429
swissprot - C9JDH2
Ensembl - ENSG00000163499
  
Related genetic diseases (OMIM): 115900 - ?Cataract 42, 115900
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
 cryba2aENSDARG00000030349Danio rerio
 cryba2bENSDARG00000041925Danio rerio
 CRYBA2ENSGALG00000011354Gallus gallus
 Cryba2ENSMUSG00000006546Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CRYBA1 / P05813 / crystallin beta A1ENSG0000010825553
CRYBA4 / P53673 / crystallin beta A4ENSG0000019643152
CRYBB1 / P53674 / crystallin beta B1ENSG0000010012247
CRYBB3 / P26998 / crystallin beta B3ENSG0000010005342
CRYBB2 / P43320 / crystallin beta B2ENSG0000024475237
CRYGS / P22914 / crystallin gamma SENSG0000021313931
CRYGN / Q8WXF5 / crystallin gamma NENSG0000012737730
CRYGA / P11844 / crystallin gamma AENSG0000016858229
CRYGC / P07315 / crystallin gamma CENSG0000016325429
CRYGD / P07320 / crystallin gamma DENSG0000011823128
CRYGB / P07316 / crystallin gamma BENSG0000018218728


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0008150 biological_process ND
 cellular_componentGO:0005575 cellular_component ND
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005212 structural constituent of eye lens IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA


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: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:0000545 Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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