UniProtKB - P53672 (CRBA2_HUMAN)
Protein
Beta-crystallin A2
Gene
CRYBA2
Organism
Homo sapiens (Human)
Status
Functioni
Crystallins are the dominant structural components of the vertebrate eye lens.
GO - Molecular functioni
- identical protein binding Source: Ensembl
- structural constituent of eye lens Source: GO_Central
GO - Biological processi
- lens development in camera-type eye Source: GO_Central
- visual perception Source: GO_Central
Keywordsi
Molecular function | Eye lens protein |
Enzyme and pathway databases
PathwayCommonsi | P53672 |
Names & Taxonomyi
Protein namesi | Recommended name: Beta-crystallin A2Alternative name(s): Beta-A2 crystallin |
Gene namesi | Name:CRYBA2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2395, CRYBA2 |
MIMi | 600836, gene |
neXtProti | NX_P53672 |
VEuPathDBi | HostDB:ENSG00000163499.11 |
Pathology & Biotechi
Involvement in diseasei
Cataract 42 (CTRCT42)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070029 | 50 | V → M in CTRCT42. 1 Publication | 1 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 1412 |
MalaCardsi | CRYBA2 |
MIMi | 115900, phenotype |
OpenTargetsi | ENSG00000163499 |
Orphaneti | 98988, Early-onset anterior polar cataract 98991, Early-onset nuclear cataract |
PharmGKBi | PA26909 |
Miscellaneous databases
Pharosi | P53672, Tdark |
Genetic variation databases
BioMutai | CRYBA2 |
DMDMi | 12644311 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000057539 | 1 – 197 | Beta-crystallin A2Add BLAST | 197 |
Proteomic databases
MassIVEi | P53672 |
PaxDbi | P53672 |
PeptideAtlasi | P53672 |
PRIDEi | P53672 |
ProteomicsDBi | 56605 |
PTM databases
iPTMneti | P53672 |
PhosphoSitePlusi | P53672 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163499, Expressed in islet of Langerhans and 93 other tissues |
ExpressionAtlasi | P53672, baseline and differential |
Genevisiblei | P53672, HS |
Organism-specific databases
HPAi | ENSG00000163499, Group enriched (adrenal gland, intestine, pancreas, pituitary gland, stomach) |
Interactioni
Subunit structurei
Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity).
By similarityBinary interactionsi
Hide detailsP53672
GO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 107802, 25 interactors |
IntActi | P53672, 32 interactors |
MINTi | P53672 |
STRINGi | 9606.ENSP00000295728 |
Miscellaneous databases
RNActi | P53672, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 12 – 52 | Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 53 – 99 | Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST | 47 | |
Domaini | 106 – 147 | Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 148 – 196 | Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST | 49 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 11 | N-terminal armAdd BLAST | 11 | |
Regioni | 100 – 105 | Connecting peptide | 6 |
Domaini
Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Sequence similaritiesi
Belongs to the beta/gamma-crystallin family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QVIR, Eukaryota |
GeneTreei | ENSGT00940000160306 |
HOGENOMi | CLU_081883_0_0_1 |
InParanoidi | P53672 |
OMAi | KVENGAW |
OrthoDBi | 1142622at2759 |
PhylomeDBi | P53672 |
TreeFami | TF331401 |
Family and domain databases
InterProi | View protein in InterPro IPR001064, Beta/gamma_crystallin IPR011024, G_crystallin-like |
Pfami | View protein in Pfam PF00030, Crystall, 2 hits |
PRINTSi | PR01367, BGCRYSTALLIN |
SMARTi | View protein in SMART SM00247, XTALbg, 2 hits |
SUPFAMi | SSF49695, SSF49695, 1 hit |
PROSITEi | View protein in PROSITE PS50915, CRYSTALLIN_BETA_GAMMA, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P53672-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV
60 70 80 90 100
ENGVWVAFEY PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC
110 120 130 140 150
ANHNDSRVTL FEGDNFQGCK FDLVDDYPSL PSMGWASKDV GSLKVSSGAW
160 170 180 190
VAYQYPGYRG YQYVLERDRH SGEFCTYGEL GTQAHTGQLQ SIRRVQH
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9JDH2 | C9JDH2_HUMAN | Beta-crystallin A2 | CRYBA2 | 128 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 117 | Q → L in CAA60147 (PubMed:7490092).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070208 | 7 | P → S1 PublicationCorresponds to variant dbSNP:rs141631259Ensembl. | 1 | |
Natural variantiVAR_070029 | 50 | V → M in CTRCT42. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF166331 mRNA Translation: AAD45388.1 BT007447 mRNA Translation: AAP36115.1 AC097468 Genomic DNA Translation: AAX88918.1 CH471063 Genomic DNA Translation: EAW70665.1 BC006285 mRNA Translation: AAH06285.1 X86395 Genomic DNA Translation: CAA60147.1 X86396 Genomic DNA Translation: CAA60148.1 |
CCDSi | CCDS2429.1 |
PIRi | S55440 S55442 |
RefSeqi | NP_476434.1, NM_057093.1 NP_476435.1, NM_057094.1 |
Genome annotation databases
Ensembli | ENST00000295728; ENSP00000295728; ENSG00000163499 ENST00000392096; ENSP00000375946; ENSG00000163499 |
GeneIDi | 1412 |
KEGGi | hsa:1412 |
UCSCi | uc002vjj.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF166331 mRNA Translation: AAD45388.1 BT007447 mRNA Translation: AAP36115.1 AC097468 Genomic DNA Translation: AAX88918.1 CH471063 Genomic DNA Translation: EAW70665.1 BC006285 mRNA Translation: AAH06285.1 X86395 Genomic DNA Translation: CAA60147.1 X86396 Genomic DNA Translation: CAA60148.1 |
CCDSi | CCDS2429.1 |
PIRi | S55440 S55442 |
RefSeqi | NP_476434.1, NM_057093.1 NP_476435.1, NM_057094.1 |
3D structure databases
SMRi | P53672 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107802, 25 interactors |
IntActi | P53672, 32 interactors |
MINTi | P53672 |
STRINGi | 9606.ENSP00000295728 |
PTM databases
iPTMneti | P53672 |
PhosphoSitePlusi | P53672 |
Genetic variation databases
BioMutai | CRYBA2 |
DMDMi | 12644311 |
Proteomic databases
MassIVEi | P53672 |
PaxDbi | P53672 |
PeptideAtlasi | P53672 |
PRIDEi | P53672 |
ProteomicsDBi | 56605 |
Protocols and materials databases
Antibodypediai | 34295, 50 antibodies |
DNASUi | 1412 |
Genome annotation databases
Ensembli | ENST00000295728; ENSP00000295728; ENSG00000163499 ENST00000392096; ENSP00000375946; ENSG00000163499 |
GeneIDi | 1412 |
KEGGi | hsa:1412 |
UCSCi | uc002vjj.2, human |
Organism-specific databases
CTDi | 1412 |
DisGeNETi | 1412 |
GeneCardsi | CRYBA2 |
HGNCi | HGNC:2395, CRYBA2 |
HPAi | ENSG00000163499, Group enriched (adrenal gland, intestine, pancreas, pituitary gland, stomach) |
MalaCardsi | CRYBA2 |
MIMi | 115900, phenotype 600836, gene |
neXtProti | NX_P53672 |
OpenTargetsi | ENSG00000163499 |
Orphaneti | 98988, Early-onset anterior polar cataract 98991, Early-onset nuclear cataract |
PharmGKBi | PA26909 |
VEuPathDBi | HostDB:ENSG00000163499.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QVIR, Eukaryota |
GeneTreei | ENSGT00940000160306 |
HOGENOMi | CLU_081883_0_0_1 |
InParanoidi | P53672 |
OMAi | KVENGAW |
OrthoDBi | 1142622at2759 |
PhylomeDBi | P53672 |
TreeFami | TF331401 |
Enzyme and pathway databases
PathwayCommonsi | P53672 |
Miscellaneous databases
BioGRID-ORCSi | 1412, 5 hits in 870 CRISPR screens |
ChiTaRSi | CRYBA2, human |
GenomeRNAii | 1412 |
Pharosi | P53672, Tdark |
PROi | PR:P53672 |
RNActi | P53672, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163499, Expressed in islet of Langerhans and 93 other tissues |
ExpressionAtlasi | P53672, baseline and differential |
Genevisiblei | P53672, HS |
Family and domain databases
InterProi | View protein in InterPro IPR001064, Beta/gamma_crystallin IPR011024, G_crystallin-like |
Pfami | View protein in Pfam PF00030, Crystall, 2 hits |
PRINTSi | PR01367, BGCRYSTALLIN |
SMARTi | View protein in SMART SM00247, XTALbg, 2 hits |
SUPFAMi | SSF49695, SSF49695, 1 hit |
PROSITEi | View protein in PROSITE PS50915, CRYSTALLIN_BETA_GAMMA, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CRBA2_HUMAN | |
Accessioni | P53672Primary (citable) accession number: P53672 Secondary accession number(s): Q4ZFX0, Q9Y562 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 156 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families