CRYBB2 (crystallin beta B2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CRYBB2 (crystallin beta B2) Homo sapiens
Analyze
Symbol: CRYBB2
Name: crystallin beta B2
RGD ID: 734352
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Predicted to act upstream of or within camera-type eye development. Implicated in cataract and cataract 3 multiple types.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-B2 crystallin; beta-crystallin B2; beta-crystallin Bp; CCA2; CRYB2; CRYB2A; crystallin, beta B2; CTA-221G9.7; CTRCT3; D22S665; eye lens structural protein
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CRYBB2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2225,212,564 - 25,231,870 (+)EnsemblGRCh38hg38GRCh38
GRCh382225,211,660 - 25,231,869 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372225,615,606 - 25,627,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,945,612 - 23,957,836 (+)NCBINCBI36hg18NCBI36
Build 342223,941,938 - 23,952,378NCBI
Celera229,419,940 - 9,432,156 (+)NCBI
Cytogenetic Map22q11.23ENTREZGENE
HuRef228,563,281 - 8,575,505 (+)NCBIHuRef
CHM1_12225,574,214 - 25,586,439 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1521468   PMID:2055112   PMID:3436525   PMID:8175657   PMID:8224918   PMID:8443605   PMID:8812489   PMID:8889548   PMID:8999933   PMID:10591208   PMID:10634616   PMID:10737800  
PMID:10930324   PMID:11700327   PMID:12060738   PMID:12457849   PMID:12477932   PMID:12535638   PMID:12601044   PMID:15452067   PMID:15461802   PMID:15489334   PMID:16179907   PMID:16274233  
PMID:16319073   PMID:16519509   PMID:17234267   PMID:17653036   PMID:17662718   PMID:17937660   PMID:18004741   PMID:18162101   PMID:18449377   PMID:18617901   PMID:19190732   PMID:19321936  
PMID:19649175   PMID:20565250   PMID:21031021   PMID:21245961   PMID:21402992   PMID:21873635   PMID:21877723   PMID:22312185   PMID:22846113   PMID:23236454   PMID:24120835   PMID:24312286  
PMID:24704203   PMID:25489230   PMID:25964531   PMID:27256633   PMID:28238532   PMID:28528950   PMID:29386872   PMID:29395391   PMID:30219234   PMID:31511085   PMID:32296183   PMID:32317624  
PMID:32899552   PMID:33246011  


Genomics

Comparative Map Data
CRYBB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2225,212,564 - 25,231,870 (+)EnsemblGRCh38hg38GRCh38
GRCh382225,211,660 - 25,231,869 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372225,615,606 - 25,627,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,945,612 - 23,957,836 (+)NCBINCBI36hg18NCBI36
Build 342223,941,938 - 23,952,378NCBI
Celera229,419,940 - 9,432,156 (+)NCBI
Cytogenetic Map22q11.23ENTREZGENE
HuRef228,563,281 - 8,575,505 (+)NCBIHuRef
CHM1_12225,574,214 - 25,586,439 (+)NCBICHM1_1
Crybb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395113,206,124 - 113,217,983 (-)NCBIGRCm39mm39
GRCm39 Ensembl5113,206,124 - 113,217,983 (-)Ensembl
GRCm385113,058,258 - 113,070,117 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5113,058,258 - 113,070,117 (-)EnsemblGRCm38mm10GRCm38
MGSCv375113,487,285 - 113,497,786 (-)NCBIGRCm37mm9NCBIm37
MGSCv365113,298,568 - 113,309,069 (-)NCBImm8
MGSCv365110,764,656 - 110,774,989 (-)NCBImm8
Celera5110,185,744 - 110,188,631 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.38NCBI
Crybb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21243,569,747 - 43,579,671 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1243,569,747 - 43,579,671 (+)Ensembl
Rnor_6.01249,577,580 - 49,588,555 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1249,578,633 - 49,588,555 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01251,351,267 - 51,361,440 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1245,165,513 - 45,175,496 (+)NCBICelera
Cytogenetic Map12q16NCBI
LOC100978249
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12223,832,570 - 24,266,719 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2223,819,784 - 23,827,265 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl2223,819,784 - 23,827,265 (+)NCBIpanpan1.1panPan2
Mhudiblu_PPA_v0226,153,824 - 6,186,786 (+)NCBIMhudiblu_PPA_v0panPan3
CRYBB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12619,298,947 - 19,308,447 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2619,298,863 - 19,308,400 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2619,164,624 - 19,174,125 (+)NCBI
ROS_Cfam_1.02619,664,244 - 19,673,750 (+)NCBI
UMICH_Zoey_3.12619,369,483 - 19,378,952 (+)NCBI
UNSW_CanFamBas_1.02619,635,278 - 19,644,790 (+)NCBI
UU_Cfam_GSD_1.02619,704,621 - 19,714,129 (+)NCBI
Crybb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118115,534,233 - 115,543,847 (-)NCBI
SpeTri2.0NW_004936657326,888 - 336,474 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRYBB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1443,208,823 - 43,220,837 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11443,206,138 - 43,220,833 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21446,029,737 - 46,043,679 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CRYBB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1198,318,486 - 8,331,632 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl198,321,039 - 8,331,929 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045118,521,373 - 118,558,745 (+)NCBIVero_WHO_p1.0
Crybb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247471,851,242 - 1,867,650 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D22S1035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,851,795 - 25,852,045UniSTSGRCh37
GRCh372225,623,940 - 25,624,215UniSTSGRCh37
Build 362223,953,940 - 23,954,215RGDNCBI36
Celera229,655,902 - 9,656,152UniSTS
Celera229,428,260 - 9,428,535RGD
Cytogenetic Map22q11.2-q12.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q12.1UniSTS
HuRef228,571,609 - 8,571,884UniSTS
HuRef228,799,356 - 8,799,606UniSTS
D22S557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,852,041 - 25,852,287UniSTSGRCh37
GRCh372225,624,211 - 25,624,457UniSTSGRCh37
Build 362223,954,211 - 23,954,457RGDNCBI36
Celera229,656,148 - 9,656,394UniSTS
Celera229,428,531 - 9,428,777RGD
Cytogenetic Map22q11.2-q12.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q12.1UniSTS
HuRef228,571,880 - 8,572,126UniSTS
HuRef228,799,602 - 8,799,848UniSTS
Whitehead-YAC Contig Map22 UniSTS
SHGC-7693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372225,622,068 - 25,622,250UniSTSGRCh37
Build 362223,952,068 - 23,952,250RGDNCBI36
Celera229,426,396 - 9,426,570RGD
Cytogenetic Map22q11.23UniSTS
HuRef228,569,737 - 8,569,919UniSTS
Stanford-G3 RH Map22432.0UniSTS
NCBI RH Map2296.0UniSTS
GeneMap99-G3 RH Map22432.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:284
Count of miRNA genes:270
Interacting mature miRNAs:276
Transcripts:ENST00000398215
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage
High
Medium 2 1 1 6 16 1
Low 585 980 1127 174 195 93 1888 428 2469 160 964 1102 83 1 222 1386
Below cutoff 1552 1322 515 383 694 306 2112 1446 1110 219 396 395 85 834 1240

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH004899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF847403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM667912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC683809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000398215   ⟹   ENSP00000381273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2225,219,639 - 25,231,869 (+)Ensembl
RefSeq Acc Id: ENST00000651629   ⟹   ENSP00000498905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2225,212,564 - 25,231,870 (+)Ensembl
RefSeq Acc Id: NM_000496   ⟹   NP_000487
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,219,639 - 25,231,869 (+)NCBI
GRCh372225,615,612 - 25,627,836 (+)ENTREZGENE
Build 362223,945,612 - 23,957,836 (+)NCBI Archive
HuRef228,563,281 - 8,575,505 (+)ENTREZGENE
CHM1_12225,574,214 - 25,586,439 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724141   ⟹   XP_006724204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,211,660 - 25,231,869 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529900   ⟹   XP_011528202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,211,660 - 25,231,869 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000487   ⟸   NM_000496
- UniProtKB: P43320 (UniProtKB/Swiss-Prot),   R4UMM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724204   ⟸   XM_006724141
- Peptide Label: isoform X1
- UniProtKB: P43320 (UniProtKB/Swiss-Prot),   R4UMM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528202   ⟸   XM_011529900
- Peptide Label: isoform X1
- UniProtKB: P43320 (UniProtKB/Swiss-Prot),   R4UMM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381273   ⟸   ENST00000398215
RefSeq Acc Id: ENSP00000498905   ⟸   ENST00000651629
Promoters
RGD ID:13603538
Promoter ID:EPDNEW_H27953
Type:initiation region
Name:CRYBB2_2
Description:crystallin beta B2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27954  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,212,572 - 25,212,632EPDNEW
RGD ID:13603540
Promoter ID:EPDNEW_H27954
Type:single initiation site
Name:CRYBB2_1
Description:crystallin beta B2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27953  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382225,219,639 - 25,219,699EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000496.3(CRYBB2):c.242G>A (p.Arg81His) single nucleotide variant Cataract 3, multiple types [RCV000557320] Chr22:25227921 [GRCh38]
Chr22:25623888 [GRCh37]
Chr22:22q11.23
uncertain significance
CRYBB2, 483C-T single nucleotide variant Cataract 3, multiple types [RCV000018462] Chr22:22q11.2-q12.2 pathogenic
NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly) single nucleotide variant Cataract 3, multiple types [RCV000546156] Chr22:25231705 [GRCh38]
Chr22:25627672 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) single nucleotide variant Cataract 3, multiple types [RCV000018458]|Congenital cataract [RCV000490780]|not provided [RCV000760465] Chr22:25231617 [GRCh38]
Chr22:25627584 [GRCh37]
Chr22:22q11.23
pathogenic|likely pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.23(chr22:24884631-25299561)x3 copy number gain See cases [RCV000051209] Chr22:24884631..25299561 [GRCh38]
Chr22:25280598..25695528 [GRCh37]
Chr22:23610598..24025528 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly) single nucleotide variant Congenital cataract [RCV000203336] Chr22:25231737 [GRCh38]
Chr22:25627704 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1 copy number loss See cases [RCV000134954] Chr22:25003092..28634004 [GRCh38]
Chr22:25399059..29029992 [GRCh37]
Chr22:23729059..27359992 [NCBI36]
Chr22:22q11.23-12.1
likely pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3 copy number gain See cases [RCV000137743] Chr22:24972072..26101385 [GRCh38]
Chr22:25368039..26497351 [GRCh37]
Chr22:23698039..24827351 [NCBI36]
Chr22:22q11.23-12.1
likely benign
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser) single nucleotide variant Cataract 3, multiple types [RCV001196039] Chr22:25231626 [GRCh38]
Chr22:25627593 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro) single nucleotide variant Congenital cataract [RCV000203398] Chr22:25231710 [GRCh38]
Chr22:25627677 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
null single nucleotide variant Cataract 3, multiple types [RCV000546339]|not provided [RCV001582813]|not specified [RCV000247282] Chr22:25227872 [GRCh38]
Chr22:25623839 [GRCh37]
Chr22:22q11.23
benign|likely benign
NM_000496.3(CRYBB2):c.483G>A (p.Gly161=) single nucleotide variant Cataract 3, multiple types [RCV001520888]|not provided [RCV000835008]|not specified [RCV000242593] Chr22:25231637 [GRCh38]
Chr22:25627604 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
NM_000496.3(CRYBB2):c.449+9G>A single nucleotide variant Cataract 3, multiple types [RCV001520887]|not specified [RCV000250633] Chr22:25229587 [GRCh38]
Chr22:25625554 [GRCh37]
Chr22:22q11.23
benign
NM_000496.3(CRYBB2):c.563G>A (p.Arg188His) single nucleotide variant Cataract 3, multiple types [RCV000688533]|not provided [RCV000267833] Chr22:25231717 [GRCh38]
Chr22:25627684 [GRCh37]
Chr22:22q11.23
pathogenic|likely pathogenic
NM_000496.3(CRYBB2):c.532G>C (p.Gly178Arg) single nucleotide variant not provided [RCV000521339] Chr22:25231686 [GRCh38]
Chr22:25627653 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) single nucleotide variant Cataract 3, multiple types [RCV000531121] Chr22:25229484 [GRCh38]
Chr22:25625451 [GRCh37]
Chr22:22q11.23
pathogenic|likely pathogenic
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys) single nucleotide variant Cataract 3, multiple types [RCV001580383] Chr22:25231716 [GRCh38]
Chr22:25627683 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly) single nucleotide variant Cataract 3, multiple types [RCV000531609] Chr22:25225024 [GRCh38]
Chr22:25620991 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_000496.2(CRYBB2):c.560T>G (p.Val187Gly) single nucleotide variant not provided [RCV000412960] Chr22:25231714 [GRCh38]
Chr22:25627681 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3 copy number gain not provided [RCV000509448] Chr22:24652837..25970705 [GRCh37]
Chr22:22q11.23-12.1
not provided
NM_000496.3(CRYBB2):c.563G>T (p.Arg188Leu) single nucleotide variant Congenital cataract [RCV000490791] Chr22:25231717 [GRCh38]
Chr22:25627684 [GRCh37]
Chr22:22q11.23
pathogenic
NM_000496.3(CRYBB2):c.26C>T (p.Ala9Val) single nucleotide variant not provided [RCV000494122] Chr22:25221455 [GRCh38]
Chr22:25617422 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000496.3(CRYBB2):c.547C>A (p.Gln183Lys) single nucleotide variant not provided [RCV000658251] Chr22:25231701 [GRCh38]
Chr22:25627668 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg) single nucleotide variant Cataract 3, multiple types [RCV000692844] Chr22:25231635 [GRCh38]
Chr22:25627602 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000496.3(CRYBB2):c.450-282CAGTA[5] microsatellite not provided [RCV001540934] Chr22:25231322..25231326 [GRCh38]
Chr22:25627289..25627293 [GRCh37]
Chr22:22q11.23
benign
null single nucleotide variant not provided [RCV001583398] Chr22:25221762 [GRCh38]
Chr22:25617729 [GRCh37]
Chr22:22q11.23
likely benign
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) microsatellite not provided [RCV001645039] Chr22:25231931..25231932 [GRCh38]
Chr22:25627898..25627899 [GRCh37]
Chr22:22q11.23
benign
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) single nucleotide variant Cataract 3, multiple types [RCV001580617] Chr22:25225036 [GRCh38]
Chr22:25621003 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_000496.3(CRYBB2):c.306+102G>A single nucleotide variant not provided [RCV001547773] Chr22:25228087 [GRCh38]
Chr22:25624054 [GRCh37]
Chr22:22q11.23
likely benign
NM_000496.3(CRYBB2):c.*49G>A single nucleotide variant not provided [RCV001568440] Chr22:25231821 [GRCh38]
Chr22:25627788 [GRCh37]
Chr22:22q11.23
likely benign
NM_000496.3(CRYBB2):c.40T>A (p.Ser14Thr) single nucleotide variant Cataract 3, multiple types [RCV001079615]|not provided [RCV000826695] Chr22:25221469 [GRCh38]
Chr22:25617436 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:25625248-25843405)x1 copy number loss not provided [RCV000846360] Chr22:25625248..25843405 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.304G>A (p.Val102Met) single nucleotide variant Cataract 3, multiple types [RCV001209682] Chr22:25227983 [GRCh38]
Chr22:25623950 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000496.3(CRYBB2):c.450-267_450-256del deletion not provided [RCV001551791] Chr22:25231336..25231347 [GRCh38]
Chr22:25627303..25627314 [GRCh37]
Chr22:22q11.23
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001658701] Chr22:25232032 [GRCh38]
Chr22:25627999 [GRCh37]
Chr22:22q11.23
benign
Single allele single nucleotide variant not provided [RCV001560995] Chr22:25231931 [GRCh38]
Chr22:25627898 [GRCh37]
Chr22:22q11.23
likely benign
null microsatellite not provided [RCV001614784] Chr22:25231322..25231336 [GRCh38]
Chr22:25627289..25627303 [GRCh37]
Chr22:22q11.23
benign
null single nucleotide variant not provided [RCV001673634] Chr22:25229902 [GRCh38]
Chr22:25625869 [GRCh37]
Chr22:22q11.23
benign
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) indel Cataract 3, multiple types [RCV001724776] Chr22:25231719..25231726 [GRCh38]
Chr22:25627686..25627693 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) microsatellite not provided [RCV001677355] Chr22:25231903..25231904 [GRCh38]
Chr22:25627870..25627871 [GRCh37]
Chr22:22q11.23
benign
NM_000496.3(CRYBB2):c.279C>T (p.Ser93=) single nucleotide variant not provided [RCV000904134] Chr22:25227958 [GRCh38]
Chr22:25623925 [GRCh37]
Chr22:22q11.23
likely benign
NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val) single nucleotide variant Cataract 3, multiple types [RCV001071059] Chr22:25224942 [GRCh38]
Chr22:25620909 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val) single nucleotide variant Cataract 3, multiple types [RCV001224685] Chr22:25229575 [GRCh38]
Chr22:25625542 [GRCh37]
Chr22:22q11.23
likely pathogenic|uncertain significance
null microsatellite not provided [RCV001636512] Chr22:25231931..25231932 [GRCh38]
Chr22:25627898..25627899 [GRCh37]
Chr22:22q11.23
benign
NM_000496.3(CRYBB2):c.54+104G>C single nucleotide variant not provided [RCV001552247] Chr22:25221587 [GRCh38]
Chr22:25617554 [GRCh37]
Chr22:22q11.23
likely benign
NM_000496.3(CRYBB2):c.450-69C>T single nucleotide variant not provided [RCV001552366] Chr22:25231535 [GRCh38]
Chr22:25627502 [GRCh37]
Chr22:22q11.23
likely benign
null microsatellite not provided [RCV001595698] Chr22:25231903..25231904 [GRCh38]
Chr22:25627870..25627871 [GRCh37]
Chr22:22q11.23
benign
NM_000496.3(CRYBB2):c.174-83G>A single nucleotide variant not provided [RCV001546026] Chr22:25227770 [GRCh38]
Chr22:25623737 [GRCh37]
Chr22:22q11.23
likely benign
Single allele single nucleotide variant not provided [RCV001539591] Chr22:25231933 [GRCh38]
Chr22:25627900 [GRCh37]
Chr22:22q11.23
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654721] Chr22:25231536 [GRCh38]
Chr22:25627503 [GRCh37]
Chr22:22q11.23
benign
null single nucleotide variant not provided [RCV001675393] Chr22:25221785 [GRCh38]
Chr22:25617752 [GRCh37]
Chr22:22q11.23
benign
null microsatellite not provided [RCV001676127] Chr22:25231904..25231905 [GRCh38]
Chr22:25627871..25627872 [GRCh37]
Chr22:22q11.23
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001684237] Chr22:25227516 [GRCh38]
Chr22:25623483 [GRCh37]
Chr22:22q11.23
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001718454] Chr22:25221379 [GRCh38]
Chr22:25617346 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) microsatellite not provided [RCV001648976] Chr22:25231932..25231933 [GRCh38]
Chr22:25627899..25627900 [GRCh37]
Chr22:22q11.23
benign
null single nucleotide variant not provided [RCV001590071] Chr22:25229154 [GRCh38]
Chr22:25625121 [GRCh37]
Chr22:22q11.23
likely benign
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 copy number gain See cases [RCV001007417] Chr22:24311474..26075188 [GRCh37]
Chr22:22q11.23-12.1
uncertain significance
null microsatellite not provided [RCV001693727] Chr22:25231931..25231932 [GRCh38]
Chr22:25627898..25627899 [GRCh37]
Chr22:22q11.23
benign
NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu) single nucleotide variant Cataract 3, multiple types [RCV001196139] Chr22:25227933 [GRCh38]
Chr22:25623900 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser) single nucleotide variant Cataract 3, multiple types [RCV001053985] Chr22:25227860 [GRCh38]
Chr22:25623827 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.24G>C (p.Gln8His) single nucleotide variant Cataract 3, multiple types [RCV001197232] Chr22:25221453 [GRCh38]
Chr22:25617420 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
NM_000496.3(CRYBB2):c.19A>G (p.Thr7Ala) single nucleotide variant Inborn genetic diseases [RCV001266166] Chr22:25221448 [GRCh38]
Chr22:25617415 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000496.3(CRYBB2):c.229G>A (p.Gly77Ser) single nucleotide variant Inborn genetic diseases [RCV001267464] Chr22:25227908 [GRCh38]
Chr22:25623875 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_000496.3(CRYBB2):c.547C>T (p.Gln183Ter) single nucleotide variant Inborn genetic diseases [RCV001265792] Chr22:25231701 [GRCh38]
Chr22:25627668 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.173+1G>T single nucleotide variant Cataract 3, multiple types [RCV001342058] Chr22:25225037 [GRCh38]
Chr22:25621004 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) single nucleotide variant Cataract 3, multiple types [RCV001342766] Chr22:25231713 [GRCh38]
Chr22:25627680 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_000496.3(CRYBB2):c.231T>C (p.Gly77=) single nucleotide variant Cataract 3, multiple types [RCV001413029] Chr22:25227910 [GRCh38]
Chr22:25623877 [GRCh37]
Chr22:22q11.23
likely benign
NM_000496.3(CRYBB2):c.306+97G>A single nucleotide variant not provided [RCV001534798] Chr22:25228082 [GRCh38]
Chr22:25624049 [GRCh37]
Chr22:22q11.23
benign
NM_001813.3(CENPE):c.243T>C (p.Thr81=) single nucleotide variant not provided [RCV001581526] Chr22:25231396 [GRCh38]
Chr22:25627363 [GRCh37]
Chr22:22q11.23
likely benign
null single nucleotide variant not provided [RCV001673515] Chr22:25221635 [GRCh38]
Chr22:25617602 [GRCh37]
Chr22:22q11.23
benign
null microsatellite not provided [RCV001619363] Chr22:25231322..25231331 [GRCh38]
Chr22:25627289..25627298 [GRCh37]
Chr22:22q11.23
benign
null single nucleotide variant not provided [RCV001588591] Chr22:25229612 [GRCh38]
Chr22:25625579 [GRCh37]
Chr22:22q11.23
likely benign
null single nucleotide variant not provided [RCV001695328] Chr22:25225156 [GRCh38]
Chr22:25621123 [GRCh37]
Chr22:22q11.23
benign
NM_000496.3(CRYBB2):c.307-304T>A single nucleotide variant not provided [RCV001527983] Chr22:25229132 [GRCh38]
Chr22:25625099 [GRCh37]
Chr22:22q11.23
benign
Single allele microsatellite not provided [RCV001537513] Chr22:25231931..25231932 [GRCh38]
Chr22:25627898..25627899 [GRCh37]
Chr22:22q11.23
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2398 AgrOrtholog
COSMIC CRYBB2 COSMIC
Ensembl Genes ENSG00000244752 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000381273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498905 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000398215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000651629 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000244752 GTEx
HGNC ID HGNC:2398 ENTREZGENE
Human Proteome Map CRYBB2 Human Proteome Map
InterPro Beta/gamma_crystallin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRYBB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_crystallin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1415 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1415 ENTREZGENE
OMIM 123620 OMIM
  601547 OMIM
PANTHER PTHR11818:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Crystall UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26912 PharmGKB
PRINTS BGCRYSTALLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CRYSTALLIN_BETA_GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART XTALbg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0H3W5H9_HUMAN UniProtKB/TrEMBL
  A0A0H3W5J2_HUMAN UniProtKB/TrEMBL
  A0A0H3W5Q8_HUMAN UniProtKB/TrEMBL
  A0A0H3W5U0_HUMAN UniProtKB/TrEMBL
  CRBB2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4UMM2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q9UCM8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CRYBB2  crystallin beta B2  CRYBB2  crystallin, beta B2  Symbol and/or name change 5135510 APPROVED