Details for: CRYBA2

Gene ID: 1412

Symbol: CRYBA2

Ensembl ID: ENSG00000163499

Description: crystallin beta A2

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: 2.93
    Marker Score: 3935
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.87
    Marker Score: 3472
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.77
    Marker Score: 1622
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.73
    Marker Score: 1411
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 2.19
    Marker Score: 883
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.15
    Marker Score: 2166
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.71
    Marker Score: 589.5
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.31
    Marker Score: 294
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.14
    Marker Score: 7604
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.06
    Marker Score: 1180
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71828
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48053
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 511
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5336
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.82
    Marker Score: 330
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.79
    Marker Score: 296
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.74
    Marker Score: 382
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.72
    Marker Score: 1157
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2978
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.66
    Marker Score: 385.5
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.57
    Marker Score: 991
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.56
    Marker Score: 176
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.55
    Marker Score: 302
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.53
    Marker Score: 131
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.48
    Marker Score: 151
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 280
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.46
    Marker Score: 449
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.45
    Marker Score: 421
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.42
    Marker Score: 414
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.4
    Marker Score: 236
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.39
    Marker Score: 106
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.38
    Marker Score: 166
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.38
    Marker Score: 155.5
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.37
    Marker Score: 355
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.36
    Marker Score: 687
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.34
    Marker Score: 217
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.32
    Marker Score: 5039
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.31
    Marker Score: 273
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.3
    Marker Score: 313
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.27
    Marker Score: 283
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.27
    Marker Score: 180
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.26
    Marker Score: 123
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.25
    Marker Score: 1504
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.23
    Marker Score: 149.5
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.23
    Marker Score: 478.5
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.22
    Marker Score: 115
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.21
    Marker Score: 436
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.21
    Marker Score: 61
  • Cell Name: type D enteroendocrine cell (CL0000502)
    Fold Change: 0.21
    Marker Score: 65
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.2
    Marker Score: 423.5
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.18
    Marker Score: 57
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.16
    Marker Score: 197
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.16
    Marker Score: 139
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.15
    Marker Score: 52
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: 0.15
    Marker Score: 48
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.15
    Marker Score: 38
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.14
    Marker Score: 46
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.14
    Marker Score: 102
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.12
    Marker Score: 170
  • Cell Name: GIP cell (CL0002278)
    Fold Change: 0.12
    Marker Score: 39
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.12
    Marker Score: 91
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.11
    Marker Score: 24
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.11
    Marker Score: 56
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.11
    Marker Score: 48
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.1
    Marker Score: 161
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.1
    Marker Score: 67
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.1
    Marker Score: 45
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.1
    Marker Score: 61
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.1
    Marker Score: 100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.09
    Marker Score: 160
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.09
    Marker Score: 248.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.09
    Marker Score: 50
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.08
    Marker Score: 37
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 29
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.08
    Marker Score: 19
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.08
    Marker Score: 35
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.08
    Marker Score: 88
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.07
    Marker Score: 73.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.07
    Marker Score: 52
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.07
    Marker Score: 27
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.07
    Marker Score: 21

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Other Information

**Key characteristics:** * The protein is a glycoprotein with a molecular weight of approximately 140 kDa. * It is a transmembrane protein that is expressed in the extracellular matrix. * It is a key component of the lens and is involved in the regulation of lens development and function. **Pathways and functions:** * The CRYBA2 protein is involved in the regulation of lens development and function. * It is a key regulator of the growth and differentiation of the lens. * It is also involved in the regulation of the refractive index of the lens. **Clinical significance:** * Mutations in the CRYBA2 gene have been linked to several eye conditions, including cataracts and glaucoma. * Crystallin beta A2 is a promising target for the treatment of these eye conditions. * By understanding the role of the CRYBA2 protein in eye development and function, researchers can develop new treatments for eye diseases.

Genular Protein ID: 3815956732

Symbol: CRBA2_HUMAN

Name: Beta-crystallin A2

UniProtKB Accession Codes:

P53672 Q4ZFX0 Q9Y562

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneCards 1 GeneTree 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 PIR 2 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 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 7490092

Title: Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1.

PubMed ID: 7490092

DOI: 10.1006/geno.1995.1186

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

PubMed ID: 24035193

Title: Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

PubMed ID: 24035193

DOI: 10.1016/j.ajhg.2013.08.002

Sequence Information:

  • Length: 197
  • Mass: 22096
  • Checksum: F9C8E7CD48EB16C7
  • Sequence:
    • MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV ENGVWVAFEY 
PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC ANHNDSRVTL FEGDNFQGCK 
FDLVDDYPSL PSMGWASKDV GSLKVSSGAW VAYQYPGYRG YQYVLERDRH SGEFCTYGEL 
GTQAHTGQLQ SIRRVQH

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.