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P53672

- CRBA2_HUMAN

UniProt

P53672 - CRBA2_HUMAN

Protein

Beta-crystallin A2

Gene

CRYBA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    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

    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 A2PRO_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.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.
    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

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

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 111 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