Details for: CRYBA4

Gene ID: 1413

Symbol: CRYBA4

Ensembl ID: ENSG00000196431

Description: crystallin beta A4

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: 8.5506
    Cell Significance Index: -1.3300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 5.2042
    Cell Significance Index: -1.3200
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 3.8401
    Cell Significance Index: 53.9400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 2.7980
    Cell Significance Index: 88.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.8060
    Cell Significance Index: 2455.5900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.5411
    Cell Significance Index: 37.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0909
    Cell Significance Index: 49.4500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.0787
    Cell Significance Index: -1.3300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8330
    Cell Significance Index: 158.5200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.6271
    Cell Significance Index: 965.4500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5948
    Cell Significance Index: 58.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.5393
    Cell Significance Index: 994.6400
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.5369
    Cell Significance Index: 4.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5124
    Cell Significance Index: 462.6800
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.3765
    Cell Significance Index: 4.4300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.3561
    Cell Significance Index: 5.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3264
    Cell Significance Index: 53.0900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3166
    Cell Significance Index: 34.4400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1887
    Cell Significance Index: 11.3300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1795
    Cell Significance Index: 12.4200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.1766
    Cell Significance Index: 2.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1246
    Cell Significance Index: 7.8500
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.1062
    Cell Significance Index: 1.3600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1002
    Cell Significance Index: 1.4400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0966
    Cell Significance Index: 2.5900
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.0756
    Cell Significance Index: 0.7800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0529
    Cell Significance Index: 0.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0457
    Cell Significance Index: 0.9900
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 0.0389
    Cell Significance Index: 0.2800
  • Cell Name: surface ectodermal cell (CL0000114)
    Fold Change: 0.0279
    Cell Significance Index: 0.2200
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.0260
    Cell Significance Index: 0.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0171
    Cell Significance Index: 1.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0153
    Cell Significance Index: 0.4400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0131
    Cell Significance Index: 0.2800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0102
    Cell Significance Index: 0.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0057
    Cell Significance Index: 0.1500
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.0054
    Cell Significance Index: 0.0300
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.0050
    Cell Significance Index: 0.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0047
    Cell Significance Index: 0.9400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0044
    Cell Significance Index: 0.2700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0040
    Cell Significance Index: 0.1000
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 0.0039
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.8400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0006
    Cell Significance Index: -0.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0008
    Cell Significance Index: -0.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0018
    Cell Significance Index: -1.3500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0021
    Cell Significance Index: -1.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0024
    Cell Significance Index: -1.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0026
    Cell Significance Index: -0.9200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0028
    Cell Significance Index: -0.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0035
    Cell Significance Index: -1.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0037
    Cell Significance Index: -0.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0039
    Cell Significance Index: -1.7900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0053
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0060
    Cell Significance Index: -1.0300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0060
    Cell Significance Index: -0.6900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0063
    Cell Significance Index: -0.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0068
    Cell Significance Index: -1.2300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0073
    Cell Significance Index: -0.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0082
    Cell Significance Index: -1.1200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0086
    Cell Significance Index: -0.3800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0095
    Cell Significance Index: -0.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0098
    Cell Significance Index: -1.4200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0100
    Cell Significance Index: -1.0200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0121
    Cell Significance Index: -1.2600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0129
    Cell Significance Index: -1.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0141
    Cell Significance Index: -0.7900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0147
    Cell Significance Index: -0.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0161
    Cell Significance Index: -0.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0200
    Cell Significance Index: -2.3600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0201
    Cell Significance Index: -1.5400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0213
    Cell Significance Index: -1.6900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0213
    Cell Significance Index: -1.0800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0220
    Cell Significance Index: -0.4600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0224
    Cell Significance Index: -0.3300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0242
    Cell Significance Index: -0.9900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0246
    Cell Significance Index: -0.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0254
    Cell Significance Index: -0.8900
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0257
    Cell Significance Index: -0.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0266
    Cell Significance Index: -0.8700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0267
    Cell Significance Index: -1.3900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0275
    Cell Significance Index: -0.5700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0279
    Cell Significance Index: -0.4200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0291
    Cell Significance Index: -0.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0292
    Cell Significance Index: -0.9300
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0292
    Cell Significance Index: -0.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0323
    Cell Significance Index: -1.6800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0324
    Cell Significance Index: -0.4700
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0324
    Cell Significance Index: -0.3400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0328
    Cell Significance Index: -0.8800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0333
    Cell Significance Index: -0.4300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0337
    Cell Significance Index: -1.4900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0340
    Cell Significance Index: -2.0900
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0344
    Cell Significance Index: -0.7000
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0348
    Cell Significance Index: -0.2500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0356
    Cell Significance Index: -2.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0369
    Cell Significance Index: -1.0100
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0392
    Cell Significance Index: -0.5500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0397
    Cell Significance Index: -0.5200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.0399
    Cell Significance Index: -0.4600

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:** CRYBA4 is a member of the crystallin family, which is composed of alpha, beta, and gamma crystallins. These proteins are essential for maintaining the transparency and refractive index of the eye lens. CRYBA4 is specifically expressed in lens epithelial cells, secondary lens fibers, and lens epithelial cells, highlighting its critical role in lens development and maintenance. **Pathways and Functions:** CRYBA4 is involved in several cellular processes, including: 1. **Attenuation phase**: CRYBA4 helps regulate the attenuation phase of the heat shock response, which is essential for protecting cells against thermal stress. 2. **Camera-type eye development**: CRYBA4 is involved in the development of the camera-type eye, where it plays a crucial role in maintaining lens transparency and refractive index. 3. **Cellular responses to stimuli**: CRYBA4 is responsive to various cellular stimuli, including heat shock, oxidative stress, and mechanical stress. 4. **Protein binding**: CRYBA4 interacts with other proteins, such as heat shock transcription factor 1 (HSF1), to regulate the expression of heat shock response genes. **Clinical Significance:** CRYBA4 has significant implications for various eye disorders and diseases, including: 1. **Age-related macular degeneration (AMD)**: Reduced expression of CRYBA4 has been linked to AMD, a leading cause of vision loss in older adults. 2. **Cataracts**: Mutations in the CRYBA4 gene have been associated with cataracts, a clouding of the lens that affects vision. 3. **Glaucoma**: CRYBA4 has been implicated in the pathogenesis of glaucoma, a group of eye disorders characterized by progressive optic nerve damage. In addition to its role in eye health, CRYBA4 has also been linked to various other diseases, including: 1. **Colorectal cancer**: Reduced expression of CRYBA4 has been observed in colorectal cancer tissues, suggesting a potential role in cancer development. 2. **Granuloma formation**: CRYBA4 has been implicated in the formation of granulomas, a type of immune response that can lead to tissue damage. **Conclusion:** In conclusion, CRYBA4 is a vital protein that plays a crucial role in maintaining eye health and transparency. Its involvement in various cellular processes, including the attenuation phase, camera-type eye development, and protein binding, highlights its importance in regulating cellular responses to stimuli. The clinical significance of CRYBA4 lies in its association with various eye disorders, including AMD, cataracts, and glaucoma, as well as its potential role in other diseases, such as colorectal cancer and granuloma formation. Further research is necessary to fully elucidate the functions and clinical significance of CRYBA4.

Genular Protein ID: 3124810487

Symbol: CRBA4_HUMAN

Name: Beta-crystallin A4

UniProtKB Accession Codes:

P53673 Q4VB22 Q6ICE4

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 9 Ensembl 1 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 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 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 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: 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: 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: 7504514

Title: Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.

PubMed ID: 7504514

DOI: 10.1002/gcc.2870080208

PubMed ID: 16960806

Title: CRYBA4, a novel human cataract gene, is also involved in microphthalmia.

PubMed ID: 16960806

DOI: 10.1086/507712

PubMed ID: 20577656

Title: A missense mutation in CRYBA4 associated with congenital cataract and microcornea.

PubMed ID: 20577656

Sequence Information:

  • Length: 196
  • Mass: 22374
  • Checksum: 104EC68E3CDE5740
  • Sequence:
    • MTLQCTKSAG PWKMVVWDED GFQGRRHEFT AECPSVLELG FETVRSLKVL SGAWVGFEHA 
GFQGQQYILE RGEYPSWDAW GGNTAYPAER LTSFRPAACA NHRDSRLTIF EQENFLGKKG 
ELSDDYPSLQ AMGWEGNEVG SFHVHSGAWV CSQFPGYRGF QYVLECDHHS GDYKHFREWG 
SHAPTFQVQS IRRIQQ

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.