CRBA2_HUMAN
ID CRBA2_HUMAN Reviewed; 197 AA.
AC P53672; Q4ZFX0; Q9Y562;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 3.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Beta-crystallin A2;
DE AltName: Full=Beta-A2 crystallin;
GN Name=CRYBA2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Wistow G.;
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 109-142 AND 158-185.
RX PubMed=7490092; DOI=10.1006/geno.1995.1186;
RA Hulsebos T.J.M., Cerosaletti K.M., Fournier R.E.K., Sinke R.J., Rocchi M.,
RA Marzella R., Jenkins N.A., Gilbert N.C., Copeland N.G.;
RT "Identification of the human beta A2 crystallin gene (CRYBA2): localization
RT of the gene on human chromosome 2 and of the homologous gene on mouse
RT chromosome 1.";
RL Genomics 28:543-548(1995).
RN [7]
RP INVOLVEMENT IN CTRCT42, AND VARIANT CTRCT42 MET-50.
RX PubMed=23508780; DOI=10.1007/s00439-013-1289-0;
RA Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P.,
RA Costakos D., Yonath H., Hall S., Power P., Semina E.V.;
RT "Whole exome sequencing in dominant cataract identifies a new causative
RT factor, CRYBA2, and a variety of novel alleles in known genes.";
RL Hum. Genet. 132:761-770(2013).
RN [8]
RP VARIANT SER-7.
RX PubMed=24035193; DOI=10.1016/j.ajhg.2013.08.002;
RA Koehler K., Malik M., Mahmood S., Giesselmann S., Beetz C., Hennings J.C.,
RA Huebner A.K., Grahn A., Reunert J., Nurnberg G., Thiele H., Altmuller J.,
RA Nurnberg P., Mumtaz R., Babovic-Vuksanovic D., Basel-Vanagaite L.,
RA Borck G., Bramswig J., Muhlenberg R., Sarda P., Sikiric A.,
RA Anyane-Yeboa K., Zeharia A., Ahmad A., Coubes C., Wada Y., Marquardt T.,
RA Vanderschaeghe D., Van Schaftingen E., Kurth I., Huebner A., Hubner C.A.;
RT "Mutations in GMPPA cause a glycosylation disorder characterized by
RT intellectual disability and autonomic dysfunction.";
RL Am. J. Hum. Genet. 93:727-734(2013).
CC -!- FUNCTION: Crystallins are the dominant structural components of the
CC vertebrate eye lens.
CC -!- SUBUNIT: Homo/heterodimer, or complexes of higher-order. The structure
CC of beta-crystallin oligomers seems to be stabilized through
CC interactions between the N-terminal arms (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC P53672; Q9NYG5-2: ANAPC11; NbExp=3; IntAct=EBI-750444, EBI-12224467;
CC P53672; Q03989: ARID5A; NbExp=3; IntAct=EBI-750444, EBI-948603;
CC P53672; P54253: ATXN1; NbExp=7; IntAct=EBI-750444, EBI-930964;
CC P53672; P46379-2: BAG6; NbExp=3; IntAct=EBI-750444, EBI-10988864;
CC P53672; Q9NP55: BPIFA1; NbExp=3; IntAct=EBI-750444, EBI-953896;
CC P53672; Q5SWW7: C10orf55; NbExp=3; IntAct=EBI-750444, EBI-12809220;
CC P53672; Q6P5X5: C22orf39; NbExp=3; IntAct=EBI-750444, EBI-7317823;
CC P53672; Q9GZU7: CTDSP1; NbExp=3; IntAct=EBI-750444, EBI-751587;
CC P53672; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-750444, EBI-3867333;
CC P53672; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-750444, EBI-12593112;
CC P53672; Q13643: FHL3; NbExp=3; IntAct=EBI-750444, EBI-741101;
CC P53672; Q5TD97: FHL5; NbExp=3; IntAct=EBI-750444, EBI-750641;
CC P53672; P21333-2: FLNA; NbExp=3; IntAct=EBI-750444, EBI-9641086;
CC P53672; P42858: HTT; NbExp=3; IntAct=EBI-750444, EBI-466029;
CC P53672; O14901: KLF11; NbExp=3; IntAct=EBI-750444, EBI-948266;
CC P53672; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-750444, EBI-1052037;
CC P53672; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-750444, EBI-10241252;
CC P53672; Q8IUC3: KRTAP7-1; NbExp=3; IntAct=EBI-750444, EBI-18394498;
CC P53672; Q14847-2: LASP1; NbExp=4; IntAct=EBI-750444, EBI-9088686;
CC P53672; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-750444, EBI-10271199;
CC P53672; Q8TDS5: OXER1; NbExp=3; IntAct=EBI-750444, EBI-12813389;
CC P53672; Q92569: PIK3R3; NbExp=4; IntAct=EBI-750444, EBI-79893;
CC P53672; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-750444, EBI-6257312;
CC P53672; P00441: SOD1; NbExp=3; IntAct=EBI-750444, EBI-990792;
CC P53672; Q12933: TRAF2; NbExp=3; IntAct=EBI-750444, EBI-355744;
CC P53672; Q15645: TRIP13; NbExp=5; IntAct=EBI-750444, EBI-358993;
CC P53672; Q9H9P5-5: UNKL; NbExp=3; IntAct=EBI-750444, EBI-12817837;
CC P53672; Q08AM6: VAC14; NbExp=3; IntAct=EBI-750444, EBI-2107455;
CC -!- DOMAIN: Has a two-domain beta-structure, folded into four very similar
CC Greek key motifs.
CC -!- DISEASE: Cataract 42 (CTRCT42) [MIM:115900]: An opacification of the
CC crystalline lens of the eye that frequently results in visual
CC impairment or blindness. Opacities vary in morphology, are often
CC confined to a portion of the lens, and may be static or progressive. In
CC general, the more posteriorly located and dense an opacity, the greater
CC the impact on visual function. {ECO:0000269|PubMed:23508780}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the beta/gamma-crystallin family. {ECO:0000305}.
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DR EMBL; AF166331; AAD45388.1; -; mRNA.
DR EMBL; BT007447; AAP36115.1; -; mRNA.
DR EMBL; AC097468; AAX88918.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70665.1; -; Genomic_DNA.
DR EMBL; BC006285; AAH06285.1; -; mRNA.
DR EMBL; X86395; CAA60147.1; -; Genomic_DNA.
DR EMBL; X86396; CAA60148.1; -; Genomic_DNA.
DR CCDS; CCDS2429.1; -.
DR PIR; S55440; S55440.
DR PIR; S55442; S55442.
DR RefSeq; NP_476434.1; NM_057093.1.
DR RefSeq; NP_476435.1; NM_057094.1.
DR AlphaFoldDB; P53672; -.
DR SMR; P53672; -.
DR BioGRID; 107802; 25.
DR IntAct; P53672; 32.
DR MINT; P53672; -.
DR STRING; 9606.ENSP00000295728; -.
DR iPTMnet; P53672; -.
DR PhosphoSitePlus; P53672; -.
DR BioMuta; CRYBA2; -.
DR DMDM; 12644311; -.
DR MassIVE; P53672; -.
DR PaxDb; P53672; -.
DR PeptideAtlas; P53672; -.
DR PRIDE; P53672; -.
DR ProteomicsDB; 56605; -.
DR Antibodypedia; 34295; 52 antibodies from 15 providers.
DR DNASU; 1412; -.
DR Ensembl; ENST00000295728.7; ENSP00000295728.2; ENSG00000163499.12.
DR Ensembl; ENST00000392096.6; ENSP00000375946.2; ENSG00000163499.12.
DR GeneID; 1412; -.
DR KEGG; hsa:1412; -.
DR MANE-Select; ENST00000295728.7; ENSP00000295728.2; NM_057093.2; NP_476434.1.
DR UCSC; uc002vjj.2; human.
DR CTD; 1412; -.
DR DisGeNET; 1412; -.
DR GeneCards; CRYBA2; -.
DR HGNC; HGNC:2395; CRYBA2.
DR HPA; ENSG00000163499; Tissue enhanced (pancreas, pituitary gland).
DR MalaCards; CRYBA2; -.
DR MIM; 115900; phenotype.
DR MIM; 600836; gene.
DR neXtProt; NX_P53672; -.
DR OpenTargets; ENSG00000163499; -.
DR Orphanet; 98988; Early-onset anterior polar cataract.
DR Orphanet; 98991; Early-onset nuclear cataract.
DR PharmGKB; PA26909; -.
DR VEuPathDB; HostDB:ENSG00000163499; -.
DR eggNOG; ENOG502QVIR; Eukaryota.
DR GeneTree; ENSGT00940000160306; -.
DR HOGENOM; CLU_081883_0_0_1; -.
DR InParanoid; P53672; -.
DR OMA; SDCANIA; -.
DR OrthoDB; 1142622at2759; -.
DR PhylomeDB; P53672; -.
DR TreeFam; TF331401; -.
DR PathwayCommons; P53672; -.
DR SignaLink; P53672; -.
DR BioGRID-ORCS; 1412; 15 hits in 1065 CRISPR screens.
DR ChiTaRS; CRYBA2; human.
DR GenomeRNAi; 1412; -.
DR Pharos; P53672; Tdark.
DR PRO; PR:P53672; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P53672; protein.
DR Bgee; ENSG00000163499; Expressed in islet of Langerhans and 91 other tissues.
DR ExpressionAtlas; P53672; baseline and differential.
DR Genevisible; P53672; HS.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0005212; F:structural constituent of eye lens; IBA:GO_Central.
DR GO; GO:0002088; P:lens development in camera-type eye; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; IBA:GO_Central.
DR InterPro; IPR001064; Beta/gamma_crystallin.
DR InterPro; IPR011024; G_crystallin-like.
DR Pfam; PF00030; Crystall; 2.
DR PRINTS; PR01367; BGCRYSTALLIN.
DR SMART; SM00247; XTALbg; 2.
DR SUPFAM; SSF49695; SSF49695; 1.
DR PROSITE; PS50915; CRYSTALLIN_BETA_GAMMA; 4.
PE 1: Evidence at protein level;
KW Cataract; Disease variant; Eye lens protein; Reference proteome; Repeat.
FT CHAIN 1..197
FT /note="Beta-crystallin A2"
FT /id="PRO_0000057539"
FT DOMAIN 12..52
FT /note="Beta/gamma crystallin 'Greek key' 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT DOMAIN 53..99
FT /note="Beta/gamma crystallin 'Greek key' 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT DOMAIN 106..147
FT /note="Beta/gamma crystallin 'Greek key' 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT DOMAIN 148..196
FT /note="Beta/gamma crystallin 'Greek key' 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT REGION 1..11
FT /note="N-terminal arm"
FT REGION 100..105
FT /note="Connecting peptide"
FT VARIANT 7
FT /note="P -> S (in dbSNP:rs141631259)"
FT /evidence="ECO:0000269|PubMed:24035193"
FT /id="VAR_070208"
FT VARIANT 50
FT /note="V -> M (in CTRCT42)"
FT /evidence="ECO:0000269|PubMed:23508780"
FT /id="VAR_070029"
FT CONFLICT 117
FT /note="Q -> L (in Ref. 6; CAA60147)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 197 AA; 22096 MW; F9C8E7CD48EB16C7 CRC64;
MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV ENGVWVAFEY
PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC ANHNDSRVTL FEGDNFQGCK
FDLVDDYPSL PSMGWASKDV GSLKVSSGAW VAYQYPGYRG YQYVLERDRH SGEFCTYGEL
GTQAHTGQLQ SIRRVQH
