Gene id |
1413 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
CRYBA4 Gene UCSC Ensembl |
Aliases |
CTRCT23, CYRBA4, MCOPCT4 |
Gene name |
crystallin beta A4 |
Alternate names |
beta-crystallin A4, beta crystallin A4 chain transcript PS, beta crystallin alpha 4 chain, beta-A4 crystallin, crystallin, beta polypeptide A4, eye lens structural protein, |
Gene location |
22q12.1 (26607981: 26630671) Exons: 7 NC_000022.11
|
Gene summary(Entrez) |
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells l
|
OMIM |
123631 |
Protein Summary
|
Protein general information
| P53673
Name: Beta crystallin A4 (Beta A4 crystallin)
Length: 196 Mass: 22374
|
Sequence |
MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHAGFQGQQYILERGEYP SWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKGELSDDYPSLQAMGWEGNEVGSFHVHSGAWV CSQFPGYRGFQYVLECDHHSGDYKHFREWGSHAPTFQVQSIRRIQQ
|
Structural information |
|
Other Databases |
GeneCards: CRYBA4  Malacards: CRYBA4 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0007601 |
visual perception
|
IBA |
biological process |
GO:0002088 |
lens development in camer a-type eye
|
IBA |
biological process |
GO:0005212 |
structural constituent of eye lens
|
IBA |
molecular function |
GO:0005212 |
structural constituent of eye lens
|
IEA |
molecular function |
GO:0005212 |
structural constituent of eye lens
|
IEA |
molecular function |
GO:0042802 |
identical protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005212 |
structural constituent of eye lens
|
IEA |
molecular function |
GO:0003674 |
molecular_function
|
ND |
molecular function |
GO:0043010 |
camera-type eye developme nt
|
IMP |
biological process |
GO:0007601 |
visual perception
|
IMP |
biological process |
GO:0007601 |
visual perception
|
NAS |
biological process |
GO:0005575 |
cellular_component
|
ND |
cellular component |
|
|
Associated diseases |
References |
Cataract | KEGG:H01202 |
Cataract | KEGG:H01202 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|