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Protein

Beta-crystallin A2

Gene

CRYBA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Crystallins are the dominant structural components of the vertebrate eye lens.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Eye lens protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163499-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-crystallin A2
Alternative name(s):
Beta-A2 crystallin
Gene namesi
Name:CRYBA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:2395. CRYBA2.

Pathology & Biotechi

Involvement in diseasei

Cataract 42 (CTRCT42)1 Publication
The disease is caused by mutations 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.
See also OMIM:115900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07002950V → M in CTRCT42. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi1412.
MalaCardsiCRYBA2.
MIMi115900. phenotype.
OpenTargetsiENSG00000163499.
Orphaneti91492. Non-syndromic congenital cataract.
PharmGKBiPA26909.

Polymorphism and mutation databases

BioMutaiCRYBA2.
DMDMi12644311.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000575391 – 197Beta-crystallin A2Add BLAST197

Proteomic databases

PaxDbiP53672.
PeptideAtlasiP53672.
PRIDEiP53672.

PTM databases

iPTMnetiP53672.
PhosphoSitePlusiP53672.

Expressioni

Gene expression databases

BgeeiENSG00000163499.
CleanExiHS_CRYBA2.
ExpressionAtlasiP53672. baseline and differential.
GenevisibleiP53672. HS.

Organism-specific databases

HPAiHPA045913.

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 similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
PIK3R3Q925694EBI-750444,EBI-79893
TRIP13Q156454EBI-750444,EBI-358993

Protein-protein interaction databases

BioGridi107802. 3 interactors.
IntActiP53672. 9 interactors.
MINTiMINT-1466302.
STRINGi9606.ENSP00000295728.

Structurei

3D structure databases

ProteinModelPortaliP53672.
SMRiP53672.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini12 – 52Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST41
Domaini53 – 99Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST47
Domaini106 – 147Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST42
Domaini148 – 196Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST49

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 11N-terminal armAdd BLAST11
Regioni100 – 105Connecting peptide6

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
Contains 4 beta/gamma crystallin 'Greek key' domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IH1M. Eukaryota.
ENOG4110S6G. LUCA.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234388.
HOVERGENiHBG003364.
InParanoidiP53672.
OMAiWVAFEYP.
OrthoDBiEOG091G0JYH.
PhylomeDBiP53672.
TreeFamiTF331401.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view]
PfamiPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P53672-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:197
Mass (Da):22,096
Last modified:January 23, 2007 - v3
Checksum:iF9C8E7CD48EB16C7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti117Q → L in CAA60147 (PubMed:7490092).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0702087P → S.1 PublicationCorresponds to variant rs141631259dbSNPEnsembl.1
Natural variantiVAR_07002950V → M in CTRCT42. 1 Publication1

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.
CCDSiCCDS2429.1.
PIRiS55440.
S55442.
RefSeqiNP_476434.1. NM_057093.1.
NP_476435.1. NM_057094.1.
UniGeneiHs.415790.

Genome annotation databases

EnsembliENST00000295728; ENSP00000295728; ENSG00000163499.
ENST00000392096; ENSP00000375946; ENSG00000163499.
GeneIDi1412.
KEGGihsa:1412.
UCSCiuc002vjj.2. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS2429.1.
PIRiS55440.
S55442.
RefSeqiNP_476434.1. NM_057093.1.
NP_476435.1. NM_057094.1.
UniGeneiHs.415790.

3D structure databases

ProteinModelPortaliP53672.
SMRiP53672.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107802. 3 interactors.
IntActiP53672. 9 interactors.
MINTiMINT-1466302.
STRINGi9606.ENSP00000295728.

PTM databases

iPTMnetiP53672.
PhosphoSitePlusiP53672.

Polymorphism and mutation databases

BioMutaiCRYBA2.
DMDMi12644311.

Proteomic databases

PaxDbiP53672.
PeptideAtlasiP53672.
PRIDEiP53672.

Protocols and materials databases

DNASUi1412.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295728; ENSP00000295728; ENSG00000163499.
ENST00000392096; ENSP00000375946; ENSG00000163499.
GeneIDi1412.
KEGGihsa:1412.
UCSCiuc002vjj.2. human.

Organism-specific databases

CTDi1412.
DisGeNETi1412.
GeneCardsiCRYBA2.
HGNCiHGNC:2395. CRYBA2.
HPAiHPA045913.
MalaCardsiCRYBA2.
MIMi115900. phenotype.
600836. gene.
neXtProtiNX_P53672.
OpenTargetsiENSG00000163499.
Orphaneti91492. Non-syndromic congenital cataract.
PharmGKBiPA26909.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH1M. Eukaryota.
ENOG4110S6G. LUCA.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234388.
HOVERGENiHBG003364.
InParanoidiP53672.
OMAiWVAFEYP.
OrthoDBiEOG091G0JYH.
PhylomeDBiP53672.
TreeFamiTF331401.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163499-MONOMER.

Miscellaneous databases

ChiTaRSiCRYBA2. human.
GenomeRNAii1412.
PROiP53672.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163499.
CleanExiHS_CRYBA2.
ExpressionAtlasiP53672. baseline and differential.
GenevisibleiP53672. HS.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view]
PfamiPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCRBA2_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.