Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P53672 (CRBA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-crystallin A2
Alternative name(s):
Beta-A2 crystallin
Gene names
Name:CRYBA2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length197 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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.

Domain

Has a two-domain beta-structure, folded into four very similar Greek key motifs.

Involvement in disease

Defects in CRYBA2 may be a cause of congenital cataract. Cataract is an opacification of the crystalline lens of the eye that frequently resulting in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive.

Sequence similarities

Belongs to the beta/gamma-crystallin family.

Contains 4 beta/gamma crystallin 'Greek key' domains.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseCataract
Disease mutation
   DomainRepeat
   Molecular functionEye lens protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlens development in camera-type eye

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionstructural constituent of eye lens

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 197197Beta-crystallin A2
PRO_0000057539

Regions

Domain12 – 5241Beta/gamma crystallin 'Greek key' 1
Domain53 – 9947Beta/gamma crystallin 'Greek key' 2
Domain106 – 14742Beta/gamma crystallin 'Greek key' 3
Domain148 – 19649Beta/gamma crystallin 'Greek key' 4
Region1 – 1111N-terminal arm
Region100 – 1056Connecting peptide

Natural variations

Natural variant71P → S. Ref.8
Corresponds to variant rs141631259 [ dbSNP | Ensembl ].
VAR_070208
Natural variant501V → M Probable disease-associated mutation found in a patient with congenital cataract. Ref.7
VAR_070029

Experimental info

Sequence conflict1171Q → L in CAA60147. Ref.6

Sequences

Sequence LengthMass (Da)Tools
P53672 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: F9C8E7CD48EB16C7

FASTA19722,096
        10         20         30         40         50         60 
MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV ENGVWVAFEY 

        70         80         90        100        110        120 
PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC ANHNDSRVTL FEGDNFQGCK 

       130        140        150        160        170        180 
FDLVDDYPSL PSMGWASKDV GSLKVSSGAW VAYQYPGYRG YQYVLERDRH SGEFCTYGEL 

       190 
GTQAHTGQLQ SIRRVQH 

« Hide

References

« Hide 'large scale' references
[1]Wistow G.
Submitted (JUL-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 (MAY-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. expand/collapse author list , 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(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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(2004) [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(1995) [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(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CONGENITAL CATARACT, VARIANT MET-50.
[8]"Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction."
Koehler K., Malik M., Mahmood S., Giesselmann S., Beetz C., Hennings J.C., Huebner A.K., Grahn A., Reunert J., Nurnberg G., Thiele H., Altmuller J., Nurnberg P., Mumtaz R., Babovic-Vuksanovic D., Basel-Vanagaite L., Borck G., Bramswig J. expand/collapse author list , Muhlenberg R., Sarda P., Sikiric A., Anyane-Yeboa K., Zeharia A., Ahmad A., Coubes C., Wada Y., Marquardt T., Vanderschaeghe D., Van Schaftingen E., Kurth I., Huebner A., Hubner C.A.
Am. J. Hum. Genet. 93:727-734(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-7.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS2429.1.
PIRS55440.
S55442.
RefSeqNP_476434.1. NM_057093.1.
NP_476435.1. NM_057094.1.
UniGeneHs.415790.

3D structure databases

ProteinModelPortalP53672.
SMRP53672. Positions 10-197.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107802. 2 interactions.
IntActP53672. 5 interactions.
MINTMINT-1466302.
STRING9606.ENSP00000295728.

PTM databases

PhosphoSiteP53672.

Polymorphism databases

DMDM12644311.

Proteomic databases

PaxDbP53672.
PeptideAtlasP53672.
PRIDEP53672.

Protocols and materials databases

DNASU1412.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295728; ENSP00000295728; ENSG00000163499.
ENST00000392096; ENSP00000375946; ENSG00000163499.
GeneID1412.
KEGGhsa:1412.
UCSCuc002vjj.1. human.

Organism-specific databases

CTD1412.
GeneCardsGC02M219854.
HGNCHGNC:2395. CRYBA2.
HPAHPA045913.
MIM600836. gene.
neXtProtNX_P53672.
PharmGKBPA26909.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42419.
HOGENOMHOG000234388.
HOVERGENHBG003364.
InParanoidP53672.
OMALWDEEDF.
OrthoDBEOG7K9K40.
PhylomeDBP53672.
TreeFamTF331401.

Gene expression databases

ArrayExpressP53672.
BgeeP53672.
CleanExHS_CRYBA2.
GenevestigatorP53672.

Family and domain databases

InterProIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view]
PfamPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSPR01367. BGCRYSTALLIN.
SMARTSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMSSF49695. SSF49695. 1 hit.
PROSITEPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi1412.
NextBio5773.
PROP53672.
SOURCESearch...

Entry information

Entry nameCRBA2_HUMAN
AccessionPrimary (citable) accession number: P53672
Secondary accession number(s): Q4ZFX0, Q9Y562
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 110 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM