Details for: CRYBB2

Gene ID: 1415

Symbol: CRYBB2

Ensembl ID: ENSG00000244752

Description: crystallin beta B2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 4.36
    Marker Score: 5869
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 4.29
    Marker Score: 5193
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.82
    Marker Score: 1648
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 1.34
    Marker Score: 1923
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4808
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.05
    Marker Score: 760
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 788
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71822
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 501
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 455
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5323
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 367
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.89
    Marker Score: 346.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.86
    Marker Score: 357
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.84
    Marker Score: 567
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1255
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.76
    Marker Score: 350.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.56
    Marker Score: 178
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 343
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.52
    Marker Score: 987
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.52
    Marker Score: 390
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.51
    Marker Score: 8049
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.46
    Marker Score: 945
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.44
    Marker Score: 684
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.36
    Marker Score: 3132
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.32
    Marker Score: 906
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.31
    Marker Score: 633
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.3
    Marker Score: 227
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.28
    Marker Score: 75
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.27
    Marker Score: 2524
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.27
    Marker Score: 251
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.26
    Marker Score: 156
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.26
    Marker Score: 254
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.24
    Marker Score: 77
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.24
    Marker Score: 498.5
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.24
    Marker Score: 82
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.23
    Marker Score: 110
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.23
    Marker Score: 60
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.21
    Marker Score: 61
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.21
    Marker Score: 251
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 70
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.21
    Marker Score: 117
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.2
    Marker Score: 159
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.19
    Marker Score: 298
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.19
    Marker Score: 127
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.19
    Marker Score: 78
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.19
    Marker Score: 1771
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.18
    Marker Score: 105
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.17
    Marker Score: 218
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.17
    Marker Score: 551
  • Cell Name: activated CD8-positive, alpha-beta T cell, human (CL0001049)
    Fold Change: 0.17
    Marker Score: 39
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.17
    Marker Score: 49
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.16
    Marker Score: 62
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.16
    Marker Score: 87
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.16
    Marker Score: 57
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.16
    Marker Score: 282
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.16
    Marker Score: 40
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.16
    Marker Score: 57
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.16
    Marker Score: 9683
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.16
    Marker Score: 77
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 93
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.16
    Marker Score: 166
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.15
    Marker Score: 68
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.15
    Marker Score: 7911
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.14
    Marker Score: 200
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.14
    Marker Score: 29
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.14
    Marker Score: 199
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.14
    Marker Score: 187
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.14
    Marker Score: 154
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.14
    Marker Score: 144
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.13
    Marker Score: 31
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.13
    Marker Score: 89
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.13
    Marker Score: 223
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.13
    Marker Score: 93
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.13
    Marker Score: 128
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.13
    Marker Score: 28
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.13
    Marker Score: 88
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.13
    Marker Score: 122
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.13
    Marker Score: 329
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.12
    Marker Score: 30
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.12
    Marker Score: 29
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.12
    Marker Score: 75
  • Cell Name: B-1a B cell (CL0000820)
    Fold Change: 0.12
    Marker Score: 29
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.12
    Marker Score: 27
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.12
    Marker Score: 205
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.12
    Marker Score: 119
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.12
    Marker Score: 111
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.12
    Marker Score: 30
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.12
    Marker Score: 40
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.12
    Marker Score: 28

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Other Information

**Key characteristics:** - The protein is a transmembrane protein with a molecular weight of approximately 140 kDa. - It is expressed in the anterior lens cell, lens epithelial cell, secondary lens fiber, respiratory basal cell, enterocyte of epithelium of small intestine, colon goblet cell, early T lineage precursor, cerebral cortex GABAergic interneuron, forebrain radial glial cell, and absorptive cell. - It is a key component of the lens and plays a crucial role in determining its physical properties and optical quality. **Pathways and functions:** - The CRBB2 gene is involved in the regulation of lens development and maintenance. - It is a key regulator of the transparency and refractive index of the lens. - Mutations in the CRBB2 gene can lead to the development of cataracts, a condition characterized by the clouding of the lens and impaired vision. - The protein is also involved in the response to stimuli, such as light, which can trigger changes in the lens's optical properties. - It is also involved in the structural integrity of the lens and the maintenance of its integrity. **Clinical significance:** - Mutations in the CRBB2 gene have been linked to several eye conditions, including cataracts, glaucoma, and age-related macular degeneration (AMD). - Early detection and diagnosis of these conditions are important for early intervention and treatment. - Crystallin beta inhibitors are a class of drugs that are used to treat cataracts by blocking the activity of the CRBB2 protein.

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 6 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 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 4 PDBsum 2 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 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. For the full schema, download it here.