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P53672

- CRBA2_HUMAN

UniProt

P53672 - CRBA2_HUMAN

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Protein
Beta-crystallin A2
Gene
CRYBA2
Organism
Homo sapiens (Human)
Status
Reviewed - 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

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

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: Chromosome 2

Organism-specific databases

HGNCiHGNC:2395. CRYBA2.

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

PharmGKBiPA26909.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 197197Beta-crystallin A2
PRO_0000057539Add
BLAST

Proteomic databases

PaxDbiP53672.
PeptideAtlasiP53672.
PRIDEiP53672.

PTM databases

PhosphoSiteiP53672.

Expressioni

Gene expression databases

ArrayExpressiP53672.
BgeeiP53672.
CleanExiHS_CRYBA2.
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.

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP53672.
SMRiP53672. Positions 10-197.

Family & Domainsi

Domains and Repeats

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

Region

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

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG42419.
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

MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV    50
ENGVWVAFEY PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC 100
ANHNDSRVTL FEGDNFQGCK FDLVDDYPSL PSMGWASKDV GSLKVSSGAW 150
VAYQYPGYRG YQYVLERDRH SGEFCTYGEL GTQAHTGQLQ SIRRVQH 197
Length:197
Mass (Da):22,096
Last modified:January 23, 2007 - v3
Checksum:iF9C8E7CD48EB16C7
GO

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 Probable disease-associated mutation found in a patient with congenital cataract. 1 Publication
VAR_070029

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171Q → L in CAA60147. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.415790.

3D structure databases

ProteinModelPortali P53672.
SMRi P53672. Positions 10-197.
ModBasei Search...

Protein-protein interaction databases

BioGridi 107802. 2 interactions.
IntActi P53672. 5 interactions.
MINTi MINT-1466302.
STRINGi 9606.ENSP00000295728.

PTM databases

PhosphoSitei P53672.

Polymorphism databases

DMDMi 12644311.

Proteomic databases

PaxDbi P53672.
PeptideAtlasi P53672.
PRIDEi P53672.

Protocols and materials databases

DNASUi 1412.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295728 ; ENSP00000295728 ; ENSG00000163499 .
ENST00000392096 ; ENSP00000375946 ; ENSG00000163499 .
GeneIDi 1412.
KEGGi hsa:1412.
UCSCi uc002vjj.1. human.

Organism-specific databases

CTDi 1412.
GeneCardsi GC02M219854.
HGNCi HGNC:2395. CRYBA2.
HPAi HPA045913.
MIMi 600836. gene.
neXtProti NX_P53672.
PharmGKBi PA26909.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42419.
HOGENOMi HOG000234388.
HOVERGENi HBG003364.
InParanoidi P53672.
OMAi LWDEEDF.
OrthoDBi EOG7K9K40.
PhylomeDBi P53672.
TreeFami TF331401.

Miscellaneous databases

GenomeRNAii 1412.
NextBioi 5773.
PROi P53672.
SOURCEi Search...

Gene expression databases

ArrayExpressi P53672.
Bgeei P53672.
CleanExi HS_CRYBA2.
Genevestigatori P53672.

Family and domain databases

InterProi IPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view ]
Pfami PF00030. Crystall. 2 hits.
[Graphical view ]
PRINTSi PR01367. BGCRYSTALLIN.
SMARTi SM00247. XTALbg. 2 hits.
[Graphical view ]
SUPFAMi SSF49695. SSF49695. 1 hit.
PROSITEi PS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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: 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 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

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