Details for: CRYBB2

Gene ID: 1415

Symbol: CRYBB2

Ensembl ID: ENSG00000244752

Description: crystallin beta B2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 11.6365
    Cell Significance Index: -1.8100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 9.7775
    Cell Significance Index: -2.4800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 6.7242
    Cell Significance Index: -2.7700
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 4.3005
    Cell Significance Index: 60.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 4.2712
    Cell Significance Index: 5807.6300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.1284
    Cell Significance Index: 4816.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.1807
    Cell Significance Index: 4021.7500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 2.0925
    Cell Significance Index: -2.5800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.6756
    Cell Significance Index: 53.0000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.8308
    Cell Significance Index: 13.1800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 0.7503
    Cell Significance Index: -2.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6941
    Cell Significance Index: 132.1000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.6248
    Cell Significance Index: 12.9600
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.5851
    Cell Significance Index: 4.7900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.5255
    Cell Significance Index: -1.1500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4372
    Cell Significance Index: 26.2500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3846
    Cell Significance Index: 8.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3234
    Cell Significance Index: 20.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2997
    Cell Significance Index: 32.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2785
    Cell Significance Index: 27.5500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2577
    Cell Significance Index: 232.6700
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.2060
    Cell Significance Index: 1.2100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1983
    Cell Significance Index: 6.3500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1956
    Cell Significance Index: 28.4400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1699
    Cell Significance Index: 27.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1569
    Cell Significance Index: 10.8500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.1535
    Cell Significance Index: 2.5300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1423
    Cell Significance Index: 4.0600
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.1356
    Cell Significance Index: 0.7600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1016
    Cell Significance Index: 3.5700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.1002
    Cell Significance Index: 1.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0998
    Cell Significance Index: 20.0100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0957
    Cell Significance Index: 1.0400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0901
    Cell Significance Index: 2.3700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0889
    Cell Significance Index: 1.8600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0716
    Cell Significance Index: 2.0000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0527
    Cell Significance Index: 2.3900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0418
    Cell Significance Index: 0.5700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0346
    Cell Significance Index: 0.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0315
    Cell Significance Index: 1.4800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0272
    Cell Significance Index: 0.6800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.0266
    Cell Significance Index: 0.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0253
    Cell Significance Index: 1.1200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0246
    Cell Significance Index: 0.3500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0236
    Cell Significance Index: 0.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0187
    Cell Significance Index: 0.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0174
    Cell Significance Index: 3.4500
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.0165
    Cell Significance Index: 0.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0157
    Cell Significance Index: 0.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0106
    Cell Significance Index: 1.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0100
    Cell Significance Index: 1.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0075
    Cell Significance Index: 2.7100
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.0065
    Cell Significance Index: 0.0400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0062
    Cell Significance Index: 0.1100
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.0062
    Cell Significance Index: 0.0700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0056
    Cell Significance Index: 0.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0050
    Cell Significance Index: 0.1400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0050
    Cell Significance Index: 0.2600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0049
    Cell Significance Index: 0.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0040
    Cell Significance Index: 0.2700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0036
    Cell Significance Index: 0.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0034
    Cell Significance Index: 0.2500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0007
    Cell Significance Index: 0.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0006
    Cell Significance Index: 1.0800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0003
    Cell Significance Index: 0.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0002
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0003
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0008
    Cell Significance Index: -0.0900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0009
    Cell Significance Index: -0.1600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0010
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0021
    Cell Significance Index: -1.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0031
    Cell Significance Index: -2.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0037
    Cell Significance Index: -1.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0039
    Cell Significance Index: -0.1800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0044
    Cell Significance Index: -2.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0046
    Cell Significance Index: -1.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0052
    Cell Significance Index: -0.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0069
    Cell Significance Index: -0.8500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0086
    Cell Significance Index: -1.4600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0116
    Cell Significance Index: -1.3500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0117
    Cell Significance Index: -0.2000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0126
    Cell Significance Index: -1.2900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0135
    Cell Significance Index: -2.8500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0166
    Cell Significance Index: -1.0200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0185
    Cell Significance Index: -2.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0246
    Cell Significance Index: -1.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0261
    Cell Significance Index: -2.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0284
    Cell Significance Index: -1.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0286
    Cell Significance Index: -1.7600
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.0292
    Cell Significance Index: -0.3400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0298
    Cell Significance Index: -2.2900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0336
    Cell Significance Index: -1.1000
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0349
    Cell Significance Index: -0.3100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0352
    Cell Significance Index: -2.7900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0360
    Cell Significance Index: -1.1500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0371
    Cell Significance Index: -2.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0380
    Cell Significance Index: -1.0400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0394
    Cell Significance Index: -1.3800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0397
    Cell Significance Index: -2.8100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0411
    Cell Significance Index: -1.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The CRYBB2 gene encodes for the beta-crystallin B2 protein, a member of the crystallin family, which is responsible for maintaining the transparency and refractive index of the eye lens. The protein is composed of four alpha-helices, which form a stable structure that allows for optimal function. The CRYBB2 gene is primarily expressed in lens cells, including anterior lens cells, lens epithelial cells, and secondary lens fibers, as well as in other cell types such as respiratory basal cells, enterocytes, and GABAergic interneurons. **Pathways and Functions:** The CRYBB2 gene is involved in several cellular pathways, including: 1. **Identical protein binding:** The beta-crystallin B2 protein interacts with other crystallin proteins to form a stable complex that maintains the structural integrity of the eye lens. 2. **Lens development in camera-type eye:** The CRYBB2 gene plays a crucial role in the development of the eye lens, particularly during the formation of the lens fibers and the maintenance of lens transparency. 3. **Protein binding:** The beta-crystallin B2 protein interacts with other proteins, including heat shock proteins and actin, to regulate cellular processes such as cell differentiation and survival. 4. **Response to stimulus:** The CRYBB2 gene is involved in the regulation of cellular responses to environmental stimuli, such as temperature and osmotic changes. 5. **Structural constituent of eye lens:** The beta-crystallin B2 protein is a key component of the eye lens, maintaining its transparency and refractive index. 6. **Structural molecule activity:** The CRYBB2 gene is involved in the regulation of structural molecule activity, including the formation of lens fibers and the maintenance of lens transparency. 7. **Visual perception:** The beta-crystallin B2 protein is essential for maintaining the structural integrity of the eye lens, which is critical for visual perception. **Clinical Significance:** Dysregulation of the CRYBB2 gene has been implicated in various eye disorders, including cataracts, age-related macular degeneration, and glaucoma. Mutations in the CRYBB2 gene have been associated with inherited forms of cataracts, such as congenital cataracts and juvenile-onset cataracts. Additionally, the CRYBB2 gene has been implicated in other diseases, including diabetes, where it is involved in the regulation of cellular responses to hyperglycemia. In conclusion, the CRYBB2 gene plays a critical role in maintaining the structural integrity and transparency of the eye lens, as well as regulating cellular processes in other tissues. Further research into the CRYBB2 gene is necessary to fully understand its role in human health and disease, and to develop novel therapeutic strategies for the treatment of eye disorders.

Genular Protein ID: 3093944648

Symbol: CRBB2_HUMAN

Name: Beta-crystallin B2

UniProtKB Accession Codes:

P43320 Q9UCM8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 5 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PCDDB 1 PDB 2 PDBsum 2 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 3 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8224918

Title: Sequence of the human lens beta B2-crystallin-encoding cDNA.

PubMed ID: 8224918

DOI: 10.1016/0378-1119(93)90655-m

PubMed ID: 9158139

Title: Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

PubMed ID: 9158139

DOI: 10.1093/hmg/6.5.665

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8443605

Title: Amino acid sequence of human lens beta B2-crystallin.

PubMed ID: 8443605

DOI: 10.1002/pro.5560020217

PubMed ID: 8999933

Title: Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.

PubMed ID: 8999933

DOI: 10.1074/jbc.272.4.2268

PubMed ID: 1521468

Title: Two-dimensional gel electrophoretic analysis of human lens proteins.

PubMed ID: 1521468

DOI: 10.3109/02713689209000740

PubMed ID: 8175657

Title: Post-translational modifications of water-soluble human lens crystallins from young adults.

PubMed ID: 8175657

DOI: 10.1016/s0021-9258(18)99902-3

PubMed ID: 10930324

Title: The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.

PubMed ID: 10930324

DOI: 10.1006/exer.2000.0868

PubMed ID: 10634616

Title: Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

PubMed ID: 10634616

PubMed ID: 28839118

Title: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

PubMed ID: 28839118

DOI: 10.1534/g3.117.300109

PubMed ID: 29386872

Title: Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

PubMed ID: 29386872

PubMed ID: 29259299

Title: Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.

PubMed ID: 29259299

DOI: 10.1038/s41598-017-18222-z

PubMed ID: 31523120

Title: Mutation screening of crystallin genes in Chinese families with congenital cataracts.

PubMed ID: 31523120

PubMed ID: 17327390

Title: Mutation of interfaces in domain-swapped human betaB2-crystallin.

PubMed ID: 17327390

DOI: 10.1110/ps.062659107

Sequence Information:

  • Length: 205
  • Mass: 23380
  • Checksum: FD95C354724A67D0
  • Sequence:
    • MASDHQTQAG KPQSLNPKII IFEQENFQGH SHELNGPCPN LKETGVEKAG SVLVQAGPWV 
GYEQANCKGE QFVFEKGEYP RWDSWTSSRR TDSLSSLRPI KVDSQEHKII LYENPNFTGK 
KMEIIDDDVP SFHAHGYQEK VSSVRVQSGT WVGYQYPGYR GLQYLLEKGD YKDSSDFGAP 
HPQVQSVRRI RDMQWHQRGA FHPSN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.