ENSG00000196431


Homo sapiens

Features
Gene ID: ENSG00000196431
  
Biological name :CRYBA4
  
Synonyms : CRYBA4 / crystallin beta A4 / P53673
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.1
Gene start: 26621964
Gene end: 26630672
  
Corresponding Affymetrix probe sets: 206843_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000346805
NCBI entrez gene - 1413     See in Manteia.
OMIM - 123631
RefSeq - XM_017028598
RefSeq - NM_001886
RefSeq - XM_006724140
RefSeq Peptide - NP_001877
swissprot - P53673
swissprot - A0A097PIJ6
Ensembl - ENSG00000196431
  
Related genetic diseases (OMIM): 610425 - Cataract 23, 610425
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
 cryba4ENSDARG00000024548Danio rerio
 CRYBA4ENSGALG00000005634Gallus gallus
 Cryba4ENSMUSG00000066975Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CRYBA1 / P05813 / crystallin beta A1ENSG0000010825566
CRYBA2 / P53672 / crystallin beta A2ENSG0000016349952
CRYBB1 / P53674 / crystallin beta B1ENSG0000010012242
CRYBB2 / P43320 / crystallin beta B2ENSG0000024475240
CRYBB3 / P26998 / crystallin beta B3ENSG0000010005340
CRYGB / P07316 / crystallin gamma BENSG0000018218731
CRYGC / P07315 / crystallin gamma CENSG0000016325431
CRYGS / P22914 / crystallin gamma SENSG0000021313931
CRYGA / P11844 / crystallin gamma AENSG0000016858229
CRYGD / P07320 / crystallin gamma DENSG0000011823128
CRYGN / Q8WXF5 / crystallin gamma NENSG0000012737725


Protein motifs (from Interpro)
Interpro ID Name
 IPR001064  Beta/gamma crystallin
 IPR011024  Gamma-crystallin-like
 IPR033342  Beta-crystallin A4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception NAS
 biological_processGO:0043010 camera-type eye development IMP
 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


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: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:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000545 Myopia 
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 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001131 Corneal dystrophy 
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 HP:0007957 Variable degree of corneal opacities 
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 HP:0007971 Lamellar cataract "A `congenital cataract` (HP:0000519) in which opacity is limited to layers of the lens external to the nucleus." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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