ID   CRGB_HUMAN              Reviewed;         175 AA.
AC   P07316; Q17RB5; Q53ST2;
DT   01-APR-1988, integrated into UniProtKB/Swiss-Prot.
DT   02-NOV-2010, sequence version 3.
DT   27-MAR-2024, entry version 185.
DE   RecName: Full=Gamma-crystallin B;
DE   AltName: Full=Gamma-B-crystallin;
DE   AltName: Full=Gamma-crystallin 1-2;
GN   Name=CRYGB; Synonyms=CRYG2;
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 [GENOMIC DNA], AND VARIANT LEU-111.
RX   PubMed=4065573; DOI=10.1016/0378-1119(85)90218-5;
RA   den Dunnen J.T., Moormann R.J.M., Cremers F.P.M., Schoenmakers J.G.G.;
RT   "Two human gamma-crystallin genes are linked and riddled with Alu-
RT   repeats.";
RL   Gene 38:197-204(1985).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-111.
RX   PubMed=2777080; DOI=10.1016/0378-1119(89)90223-0;
RA   den Dunnen J.T., van Neck J.W., Cremers F.P.M., Lubsen N.H.,
RA   Schoenmakers J.G.G.;
RT   "Nucleotide sequence of the rat gamma-crystallin gene region and comparison
RT   with an orthologous human region.";
RL   Gene 78:201-213(1989).
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 MRNA], AND VARIANT LEU-111.
RC   TISSUE=Testis;
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   [5]
RP   INVOLVEMENT IN CTRCT39.
RX   PubMed=23288985;
RA   Al Fadhli S., Abdelmoaty S., Al-Hajeri A., Behbehani A., Alkuraya F.;
RT   "Novel crystallin gamma B mutations in a Kuwaiti family with autosomal
RT   dominant congenital cataracts reveal genetic and clinical heterogeneity.";
RL   Mol. Vis. 18:2931-2936(2012).
RN   [6]
RP   3D-STRUCTURE MODELING.
RX   PubMed=12507494; DOI=10.1016/s0006-291x(02)02895-4;
RA   Salim A., Zaidi Z.H.;
RT   "Homology models of human gamma-crystallins: structural study of the
RT   extensive charge network in gamma-crystallins.";
RL   Biochem. Biophys. Res. Commun. 300:624-630(2003).
RN   [7]
RP   3D-STRUCTURE MODELING.
RX   PubMed=14517968; DOI=10.1002/prot.10493;
RA   Salim A., Bano A., Zaidi Z.H.;
RT   "Prediction of possible sites for posttranslational modifications in human
RT   gamma crystallins: effect of glycation on the structure of human gamma-B-
RT   crystallin as analyzed by molecular modeling.";
RL   Proteins 53:162-173(2003).
RN   [8]
RP   X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 2-174.
RX   PubMed=17628592; DOI=10.1016/j.jmb.2007.06.045;
RA   Ebersbach H., Fiedler E., Scheuermann T., Fiedler M., Stubbs M.T.,
RA   Reimann C., Proetzel G., Rudolph R., Fiedler U.;
RT   "Affilin-novel binding molecules based on human gamma-B-crystallin, an all
RT   beta-sheet protein.";
RL   J. Mol. Biol. 372:172-185(2007).
RN   [9]
RP   VARIANTS ILE-73 AND LEU-111.
RX   PubMed=12011157; DOI=10.1136/jmg.39.5.352;
RA   Santhiya S.T., Shyam Manohar M., Rawlley D., Vijayalakshmi P.,
RA   Namperumalsamy P., Gopinath P.M., Loester J., Graw J.;
RT   "Novel mutations in the gamma-crystallin genes cause autosomal dominant
RT   congenital cataracts.";
RL   J. Med. Genet. 39:352-358(2002).
RN   [10]
RP   VARIANT LEU-111.
RX   PubMed=12676897; DOI=10.1136/jmg.40.4.262;
RA   Nandrot E., Slingsby C., Basak A., Cherif-Chefchaouni M., Benazzouz B.,
RA   Hajaji Y., Boutayeb S., Gribouval O., Arbogast L., Berraho A., Abitbol M.,
RA   Hilal L.;
RT   "Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant
RT   congenital cerulean cataracts.";
RL   J. Med. Genet. 40:262-267(2003).
CC   -!- FUNCTION: Crystallins are the dominant structural components of the
CC       vertebrate eye lens.
CC   -!- SUBUNIT: Monomer. {ECO:0000250}.
CC   -!- DOMAIN: Has a two-domain beta-structure, folded into four very similar
CC       Greek key motifs.
CC   -!- DISEASE: Cataract 39, multiple types (CTRCT39) [MIM:615188]: An
CC       opacification of the crystalline lens of the eye that frequently
CC       results in visual impairment or blindness. Opacities vary in
CC       morphology, are often confined to a portion of the lens, and may be
CC       static or progressive. In general, the more posteriorly located and
CC       dense an opacity, the greater the impact on visual function. CTRCT39
CC       includes lamellar, anterior polar, and complete cataracts.
CC       {ECO:0000269|PubMed:23288985}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the beta/gamma-crystallin family. {ECO:0000305}.
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DR   EMBL; M11971; AAA52113.1; -; Genomic_DNA.
DR   EMBL; M11970; AAA52113.1; JOINED; Genomic_DNA.
DR   EMBL; M19364; AAA52109.1; -; Genomic_DNA.
DR   EMBL; AC016697; AAX93219.1; -; Genomic_DNA.
DR   EMBL; BC074944; AAH74944.1; -; mRNA.
DR   EMBL; BC074945; AAH74945.1; -; mRNA.
DR   EMBL; BC117384; AAI17385.1; -; mRNA.
DR   EMBL; BC117388; AAI17389.1; -; mRNA.
DR   CCDS; CCDS2380.1; -.
DR   PIR; A24520; CYHUG1.
DR   RefSeq; NP_005201.2; NM_005210.3.
DR   PDB; 2JDF; X-ray; 1.70 A; A=2-175.
DR   PDB; 2JDG; X-ray; 2.00 A; A=2-175.
DR   PDBsum; 2JDF; -.
DR   PDBsum; 2JDG; -.
DR   AlphaFoldDB; P07316; -.
DR   SMR; P07316; -.
DR   BioGRID; 107809; 5.
DR   IntAct; P07316; 1.
DR   STRING; 9606.ENSP00000260988; -.
DR   iPTMnet; P07316; -.
DR   PhosphoSitePlus; P07316; -.
DR   BioMuta; CRYGB; -.
DR   DMDM; 311033463; -.
DR   MassIVE; P07316; -.
DR   PaxDb; 9606-ENSP00000260988; -.
DR   PeptideAtlas; P07316; -.
DR   ProteomicsDB; 51986; -.
DR   Antibodypedia; 34195; 82 antibodies from 16 providers.
DR   DNASU; 1419; -.
DR   Ensembl; ENST00000260988.5; ENSP00000260988.4; ENSG00000182187.4.
DR   GeneID; 1419; -.
DR   KEGG; hsa:1419; -.
DR   MANE-Select; ENST00000260988.5; ENSP00000260988.4; NM_005210.4; NP_005201.2.
DR   UCSC; uc002vcp.5; human.
DR   AGR; HGNC:2409; -.
DR   CTD; 1419; -.
DR   DisGeNET; 1419; -.
DR   GeneCards; CRYGB; -.
DR   HGNC; HGNC:2409; CRYGB.
DR   HPA; ENSG00000182187; Not detected.
DR   MalaCards; CRYGB; -.
DR   MIM; 123670; gene.
DR   MIM; 615188; phenotype.
DR   neXtProt; NX_P07316; -.
DR   OpenTargets; ENSG00000182187; -.
DR   Orphanet; 98988; Early-onset anterior polar cataract.
DR   Orphanet; 441452; Early-onset lamellar cataract.
DR   Orphanet; 98994; Total early-onset cataract.
DR   PharmGKB; PA26916; -.
DR   VEuPathDB; HostDB:ENSG00000182187; -.
DR   eggNOG; ENOG502RXJY; Eukaryota.
DR   GeneTree; ENSGT00940000159232; -.
DR   HOGENOM; CLU_081883_1_1_1; -.
DR   InParanoid; P07316; -.
DR   OMA; AYRMKIY; -.
DR   OrthoDB; 3998747at2759; -.
DR   PhylomeDB; P07316; -.
DR   PathwayCommons; P07316; -.
DR   SignaLink; P07316; -.
DR   BioGRID-ORCS; 1419; 20 hits in 1141 CRISPR screens.
DR   EvolutionaryTrace; P07316; -.
DR   GeneWiki; CRYGB; -.
DR   GenomeRNAi; 1419; -.
DR   Pharos; P07316; Tbio.
DR   PRO; PR:P07316; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; P07316; Protein.
DR   Bgee; ENSG00000182187; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 21 other cell types or tissues.
DR   GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR   GO; GO:0005634; C:nucleus; 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:0070309; P:lens fiber cell morphogenesis; IEA:Ensembl.
DR   GO; GO:0007601; P:visual perception; IBA:GO_Central.
DR   Gene3D; 2.60.20.10; Crystallins; 2.
DR   InterPro; IPR001064; Beta/gamma_crystallin.
DR   InterPro; IPR011024; G_crystallin-like.
DR   PANTHER; PTHR11818; BETA/GAMMA CRYSTALLIN; 1.
DR   PANTHER; PTHR11818:SF123; GAMMA-CRYSTALLIN B; 1.
DR   Pfam; PF00030; Crystall; 2.
DR   PRINTS; PR01367; BGCRYSTALLIN.
DR   SMART; SM00247; XTALbg; 2.
DR   SUPFAM; SSF49695; gamma-Crystallin-like; 1.
DR   PROSITE; PS50915; CRYSTALLIN_BETA_GAMMA; 4.
DR   Genevisible; P07316; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Cataract; Eye lens protein; Reference proteome; Repeat.
FT   CHAIN           1..175
FT                   /note="Gamma-crystallin B"
FT                   /id="PRO_0000057586"
FT   DOMAIN          2..40
FT                   /note="Beta/gamma crystallin 'Greek key' 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   DOMAIN          41..83
FT                   /note="Beta/gamma crystallin 'Greek key' 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   DOMAIN          89..129
FT                   /note="Beta/gamma crystallin 'Greek key' 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   DOMAIN          130..172
FT                   /note="Beta/gamma crystallin 'Greek key' 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   REGION          84..88
FT                   /note="Connecting peptide"
FT   VARIANT         73
FT                   /note="S -> I"
FT                   /evidence="ECO:0000269|PubMed:12011157"
FT                   /id="VAR_021140"
FT   VARIANT         90
FT                   /note="R -> T (in dbSNP:rs2241980)"
FT                   /id="VAR_029517"
FT   VARIANT         111
FT                   /note="I -> L (in dbSNP:rs796287)"
FT                   /evidence="ECO:0000269|PubMed:12011157,
FT                   ECO:0000269|PubMed:12676897, ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:2777080, ECO:0000269|PubMed:4065573"
FT                   /id="VAR_021141"
FT   STRAND          3..9
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   TURN            10..12
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          13..21
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   TURN            27..29
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          34..48
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   TURN            49..51
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          52..58
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          60..65
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   HELIX           66..69
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          72..74
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          78..82
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          90..96
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   TURN            97..99
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          100..108
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   HELIX           113..117
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          124..130
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          132..137
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   TURN            138..140
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          141..147
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          149..152
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   HELIX           155..158
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          161..164
FT                   /evidence="ECO:0007829|PDB:2JDF"
FT   STRAND          167..170
FT                   /evidence="ECO:0007829|PDB:2JDF"
SQ   SEQUENCE   175 AA;  20908 MW;  E0B605353FC62AFC CRC64;
     MGKITFYEDR AFQGRSYECT TDCPNLQPYF SRCNSIRVES GCWMIYERPN YQGHQYFLRR
     GEYPDYQQWM GLSDSIRSCC LIPPHSGAYR MKIYDRDELR GQMSELTDDC ISVQDRFHLT
     EIHSLNVLEG SWILYEMPNY RGRQYLLRPG EYRRFLDWGA PNAKVGSLRR VMDLY
//