Details for: CRYBA2

Gene ID: 1412

Symbol: CRYBA2

Ensembl ID: ENSG00000163499

Description: crystallin beta A2

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: conjunctival epithelial cell (CL1000432)
    Fold Change: 5.1760
    Cell Significance Index: 70.6200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.4824
    Cell Significance Index: -6.6500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.6194
    Cell Significance Index: 26.6900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.4583
    Cell Significance Index: 46.1300
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 1.1202
    Cell Significance Index: 9.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9775
    Cell Significance Index: 96.7000
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.9320
    Cell Significance Index: 13.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.9294
    Cell Significance Index: 1263.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9020
    Cell Significance Index: 814.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8900
    Cell Significance Index: 18.9600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6195
    Cell Significance Index: 67.3800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5427
    Cell Significance Index: 32.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5404
    Cell Significance Index: 87.8900
  • Cell Name: adipocyte (CL0000136)
    Fold Change: 0.4223
    Cell Significance Index: 5.6300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3711
    Cell Significance Index: 571.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3523
    Cell Significance Index: 24.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3475
    Cell Significance Index: 66.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3271
    Cell Significance Index: 603.2000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2899
    Cell Significance Index: 13.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1336
    Cell Significance Index: 8.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1034
    Cell Significance Index: 2.9800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0609
    Cell Significance Index: 2.1400
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.0459
    Cell Significance Index: 0.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0378
    Cell Significance Index: 0.8200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0377
    Cell Significance Index: 0.4800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0363
    Cell Significance Index: 6.1900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0251
    Cell Significance Index: 2.8600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0118
    Cell Significance Index: 2.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0096
    Cell Significance Index: 7.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0055
    Cell Significance Index: 0.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0018
    Cell Significance Index: -1.1400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0026
    Cell Significance Index: -0.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0029
    Cell Significance Index: -1.6400
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0055
    Cell Significance Index: -0.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0064
    Cell Significance Index: -1.8300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0070
    Cell Significance Index: -0.1000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0083
    Cell Significance Index: -0.2300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0088
    Cell Significance Index: -6.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0108
    Cell Significance Index: -5.9000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0168
    Cell Significance Index: -6.0400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0170
    Cell Significance Index: -1.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0190
    Cell Significance Index: -8.6200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0233
    Cell Significance Index: -0.4000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0258
    Cell Significance Index: -5.1800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0271
    Cell Significance Index: -0.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0317
    Cell Significance Index: -6.2900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0350
    Cell Significance Index: -6.3100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0367
    Cell Significance Index: -1.0000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0375
    Cell Significance Index: -1.9500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0418
    Cell Significance Index: -4.8700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0467
    Cell Significance Index: -6.4200
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0475
    Cell Significance Index: -0.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0529
    Cell Significance Index: -6.5000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0538
    Cell Significance Index: -0.8100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0615
    Cell Significance Index: -6.2800
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0660
    Cell Significance Index: -0.4300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0689
    Cell Significance Index: -1.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0690
    Cell Significance Index: -2.2100
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0697
    Cell Significance Index: -0.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0796
    Cell Significance Index: -3.7100
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0884
    Cell Significance Index: -1.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0937
    Cell Significance Index: -4.9200
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.0938
    Cell Significance Index: -1.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0940
    Cell Significance Index: -6.3200
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0958
    Cell Significance Index: -1.0600
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1034
    Cell Significance Index: -1.0400
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: -0.1102
    Cell Significance Index: -1.2200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1108
    Cell Significance Index: -6.8100
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.1111
    Cell Significance Index: -1.1900
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.1198
    Cell Significance Index: -1.3100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1200
    Cell Significance Index: -1.3100
  • Cell Name: CD141-positive myeloid dendritic cell (CL0002394)
    Fold Change: -0.1212
    Cell Significance Index: -1.3100
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.1249
    Cell Significance Index: -1.3000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1268
    Cell Significance Index: -3.1700
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: -0.1322
    Cell Significance Index: -1.2000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1353
    Cell Significance Index: -7.5900
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: -0.1362
    Cell Significance Index: -0.9500
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1372
    Cell Significance Index: -1.4200
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1381
    Cell Significance Index: -1.3400
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1400
    Cell Significance Index: -1.3400
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: -0.1422
    Cell Significance Index: -1.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1423
    Cell Significance Index: -6.6900
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.1502
    Cell Significance Index: -1.6800
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1502
    Cell Significance Index: -1.4700
  • Cell Name: mature T cell (CL0002419)
    Fold Change: -0.1513
    Cell Significance Index: -1.0900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1550
    Cell Significance Index: -2.2200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1556
    Cell Significance Index: -5.4500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1558
    Cell Significance Index: -2.5000
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: -0.1586
    Cell Significance Index: -1.1800
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.1613
    Cell Significance Index: -1.0300
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.1642
    Cell Significance Index: -1.1800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1656
    Cell Significance Index: -2.2900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1659
    Cell Significance Index: -6.0900
  • Cell Name: PP cell (CL0000696)
    Fold Change: -0.1682
    Cell Significance Index: -1.7100
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: -0.1730
    Cell Significance Index: -1.3300
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: -0.1739
    Cell Significance Index: -1.3900
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.1764
    Cell Significance Index: -1.1700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1768
    Cell Significance Index: -7.8200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1806
    Cell Significance Index: -1.8700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1876
    Cell Significance Index: -4.7800

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:** CRYBA2 is a small, acidic protein that is highly conserved across species, suggesting its critical role in maintaining lens homeostasis. It is a member of the crystallin family, which is composed of alpha, beta, and gamma crystallins. The beta-crystallin subfamily, to which CRYBA2 belongs, is responsible for maintaining lens transparency by preventing protein aggregation and maintaining the structural integrity of the lens. **Pathways and Functions:** CRYBA2 plays a crucial role in various cellular processes, including: 1. **Identical protein binding:** CRYBA2 interacts with other crystallin proteins, such as beta-A2-crystallin (CRBA2), to maintain lens transparency and prevent protein aggregation. 2. **Structural constituent of eye lens:** CRYBA2 is an essential component of the lens, providing structural support and maintaining its shape. 3. **Molecular function:** CRYBA2 regulates protein-protein interactions, ensuring that lens proteins are properly folded and assembled, which is critical for maintaining lens transparency. 4. **Lens development in camera-type eye:** CRYBA2 is involved in the development of the eye lens, particularly during fetal development and early childhood. 5. **Protein binding:** CRYBA2 interacts with various proteins, including actin, tubulin, and heat shock proteins, to regulate protein function and maintain lens homeostasis. **Clinical Significance:** Dysregulation or mutations in CRYBA2 have been implicated in various eye disorders, including: 1. **Cataracts:** CRYBA2 mutations have been associated with congenital cataracts, which can lead to vision loss and blindness. 2. **Age-related cataracts:** CRYBA2 expression is reduced in age-related cataracts, suggesting that this gene plays a role in maintaining lens transparency with age. 3. **Lens opacification:** CRYBA2 mutations have been linked to lens opacification, a condition characterized by the accumulation of protein aggregates in the lens, leading to vision loss. In conclusion, CRYBA2 is a critical gene that plays a pivotal role in maintaining eye lens homeostasis and visual function. Its dysregulation or mutations can lead to various eye disorders, highlighting the importance of understanding the molecular mechanisms underlying lens development and maintenance. Further research is necessary to elucidate the full extent of CRYBA2's role in eye health and disease.

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 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 2 OrthoDB 1 PANTHER 2 PIR 2 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 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. 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.