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Protein

Beta-crystallin A2

Gene

CRYBA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. structural constituent of eye lens Source: UniProtKB-KW

GO - Biological processi

  1. lens development in camera-type eye Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Eye lens protein

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
ProteomesiUP000005640 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501V → M in CTRCT42. 1 Publication
VAR_070029

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi115900. phenotype.
Orphaneti91492. Non-syndromic congenital cataract.
PharmGKBiPA26909.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 197197Beta-crystallin A2PRO_0000057539Add
BLAST

Proteomic databases

PaxDbiP53672.
PeptideAtlasiP53672.
PRIDEiP53672.

PTM databases

PhosphoSiteiP53672.

Expressioni

Gene expression databases

BgeeiP53672.
CleanExiHS_CRYBA2.
ExpressionAtlasiP53672. baseline and differential.
GenevestigatoriP53672.

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

Protein-protein interaction databases

BioGridi107802. 2 interactions.
IntActiP53672. 5 interactions.
MINTiMINT-1466302.
STRINGi9606.ENSP00000295728.

Structurei

3D structure databases

ProteinModelPortaliP53672.
SMRiP53672. Positions 10-197.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 5241Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd
BLAST
Domaini53 – 9947Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd
BLAST
Domaini106 – 14742Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd
BLAST
Domaini148 – 19649Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 1111N-terminal armAdd
BLAST
Regioni100 – 1056Connecting peptide

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

eggNOGiNOG42419.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234388.
HOVERGENiHBG003364.
InParanoidiP53672.
OMAiLWDEEDF.
OrthoDBiEOG7K9K40.
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 22, 2007 - v3
Checksum:iF9C8E7CD48EB16C7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171Q → L in CAA60147 (PubMed:7490092).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71P → S.1 Publication
Corresponds to variant rs141631259 [ dbSNP | Ensembl ].
VAR_070208
Natural varianti50 – 501V → M in CTRCT42. 1 Publication
VAR_070029

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.1. human.

Polymorphism databases

DMDMi12644311.

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. Positions 10-197.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107802. 2 interactions.
IntActiP53672. 5 interactions.
MINTiMINT-1466302.
STRINGi9606.ENSP00000295728.

PTM databases

PhosphoSiteiP53672.

Polymorphism databases

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.1. human.

Organism-specific databases

CTDi1412.
GeneCardsiGC02M219854.
HGNCiHGNC:2395. CRYBA2.
HPAiHPA045913.
MIMi115900. phenotype.
600836. gene.
neXtProtiNX_P53672.
Orphaneti91492. Non-syndromic congenital cataract.
PharmGKBiPA26909.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG42419.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234388.
HOVERGENiHBG003364.
InParanoidiP53672.
OMAiLWDEEDF.
OrthoDBiEOG7K9K40.
PhylomeDBiP53672.
TreeFamiTF331401.

Miscellaneous databases

ChiTaRSiCRYBA2. human.
GenomeRNAii1412.
NextBioi5773.
PROiP53672.
SOURCEiSearch...

Gene expression databases

BgeeiP53672.
CleanExiHS_CRYBA2.
ExpressionAtlasiP53672. baseline and differential.
GenevestigatoriP53672.

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...

Publicationsi

« Hide 'large scale' publications
  1. Wistow G.
    Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  6. "Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1."
    Hulsebos T.J.M., Cerosaletti K.M., Fournier R.E.K., Sinke R.J., Rocchi M., Marzella R., Jenkins N.A., Gilbert N.C., Copeland N.G.
    Genomics 28:543-548(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 109-142 AND 158-185.
  7. "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
    Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P., Costakos D., Yonath H., Hall S., Power P., Semina E.V.
    Hum. Genet. 132:761-770(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CTRCT42, VARIANT CTRCT42 MET-50.
  8. Cited for: VARIANT SER-7.

Entry informationi

Entry nameiCRBA2_HUMAN
AccessioniPrimary (citable) accession number: P53672
Secondary accession number(s): Q4ZFX0, Q9Y562
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 30, 1996
Last sequence update: January 22, 2007
Last modified: March 3, 2015
This is version 115 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

External Data

Dasty 3

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 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.