Details for: CRYBB3

Gene ID: 1417

Symbol: CRYBB3

Ensembl ID: ENSG00000100053

Description: crystallin beta B3

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: glial cell (CL0000125)
    Fold Change: 14.68
    Marker Score: 16139
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.66
    Marker Score: 1557
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1172
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.49
    Marker Score: 4259.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.34
    Marker Score: 2541
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 857
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.19
    Marker Score: 1439
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4819
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71832
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.99
    Marker Score: 411
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.92
    Marker Score: 424
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.89
    Marker Score: 1193
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.84
    Marker Score: 488
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.84
    Marker Score: 13123
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 463
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.72
    Marker Score: 1147
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 475
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.55
    Marker Score: 1126
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.54
    Marker Score: 541
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.44
    Marker Score: 267
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.42
    Marker Score: 999
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.4
    Marker Score: 126
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.35
    Marker Score: 167
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.31
    Marker Score: 179
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.3
    Marker Score: 132
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.27
    Marker Score: 297.5
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.17
    Marker Score: 269.5
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.17
    Marker Score: 1424
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.16
    Marker Score: 1474
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.15
    Marker Score: 92
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.15
    Marker Score: 539
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.13
    Marker Score: 858
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.13
    Marker Score: 121
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.12
    Marker Score: 342
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.12
    Marker Score: 169
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.11
    Marker Score: 34
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.1
    Marker Score: 22
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.09
    Marker Score: 84
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.09
    Marker Score: 62.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.09
    Marker Score: 863
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.09
    Marker Score: 20
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.08
    Marker Score: 38
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.08
    Marker Score: 75
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.08
    Marker Score: 4865
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.08
    Marker Score: 32
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.08
    Marker Score: 313
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.07
    Marker Score: 82
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.07
    Marker Score: 18
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.07
    Marker Score: 58
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.07
    Marker Score: 18
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.06
    Marker Score: 1376
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.06
    Marker Score: 17
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.06
    Marker Score: 19
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.06
    Marker Score: 61
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.05
    Marker Score: 41
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.05
    Marker Score: 112
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.05
    Marker Score: 20
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.05
    Marker Score: 19.5
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.05
    Marker Score: 18.5
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.05
    Marker Score: 18
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.05
    Marker Score: 29
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.05
    Marker Score: 12
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.05
    Marker Score: 20
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.05
    Marker Score: 165
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.05
    Marker Score: 45
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.05
    Marker Score: 54
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.05
    Marker Score: 45

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Other Information

**Key characteristics:** * The CRYBB3 gene is located on chromosome 19p13.1. * It is a large gene with a length of approximately 30.5 kilobases. * It contains 21 exons and 19 introns. * The protein encoded by CRYBB3 is a glycoprotein that is expressed in various cell types of the eye, including the lens, iris, ciliary body, and retina. **Pathways and functions:** * The CRYBB3 gene is involved in the development of the lens during embryonic eye formation. * It is a key component of the lens epithelial cell layer, which produces the protein responsible for lens transparency. * The protein encoded by CRYBB3 is also expressed in the ciliary body, where it is involved in the transport of nutrients to the lens. * It is involved in the regulation of the blood-aqueous barrier, which prevents the entry of harmful substances into the eye. * CRYBB3 is also involved in the transduction of visual signals from the retina to the brain. **Clinical significance:** Mutations in the CRYBB3 gene have been linked to several eye disorders, including cataracts, glaucoma, and age-related macular degeneration (AMD). These disorders are characterized by the development of a cloudy or opaque lens, which can lead to vision loss. **Additional notes:** * The CRYBB3 gene is also known as SLC24A3. * It is a highly conserved gene, with a similar protein found in other vertebrates. * Studies have shown that mutations in the CRYBB3 gene can lead to the development of eye diseases in animals.

Genular Protein ID: 2034575457

Symbol: CRBB3_HUMAN

Name: Beta-crystallin B3

UniProtKB Accession Codes:

P26998 Q3B7S9 Q3T1B7 Q6ISK6 Q92965 Q9UH09

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 1 ExpressionAtlas 1 GO 3 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 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 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 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

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: 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: 2499686

Title: Different evolution rates within the lens-specific beta-crystallin gene family.

PubMed ID: 2499686

DOI: 10.1007/bf02103427

PubMed ID: 15914629

Title: Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

PubMed ID: 15914629

DOI: 10.1167/iovs.04-1481

PubMed ID: 19182255

Title: Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

PubMed ID: 19182255

DOI: 10.1167/iovs.08-3149

PubMed ID: 23508780

Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PubMed ID: 23508780

DOI: 10.1007/s00439-013-1289-0

Sequence Information:

  • Length: 211
  • Mass: 24252
  • Checksum: E5ABA1165C7B45BA
  • Sequence:
    • MAEQHGAPEQ AAAGKSHGDL GGSYKVILYE LENFQGKRCE LSAECPSLTD SLLEKVGSIQ 
VESGPWLAFE SRAFRGEQFV LEKGDYPRWD AWSNSRDSDS LLSLRPLNID SPHHKLHLFE 
NPAFSGRKME IVDDDVPSLW AHGFQDRVAS VRAINGTWVG YEFPGYRGRQ YVFERGEYRH 
WNEWDASQPQ LQSVRRIRDQ KWHKRGRFPS S

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.