CRYBB3
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Summary
CRYBB3 (crystallin beta B3, HGNC:2400) is a protein-coding gene on chromosome 22q11.23, encoding Beta-crystallin B3 (P26998). Crystallins are the dominant structural components of the vertebrate eye lens.
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2.
Source: NCBI Gene 1417 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cataract 22 multiple types (Definitive, GenCC) — +3 more curated relationships
- Clinical variants (ClinVar): 134 total — 3 pathogenic, 4 likely-pathogenic
- Phenotypes (HPO): 6
- MANE Select transcript:
NM_004076
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2400 |
| Approved symbol | CRYBB3 |
| Name | crystallin beta B3 |
| Location | 22q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000100053 |
| Ensembl biotype | protein_coding |
| OMIM | 123630 |
| Entrez | 1417 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000215855, ENST00000404334
RefSeq mRNA: 1 — MANE Select: NM_004076
NM_004076
CCDS: CCDS13830
Canonical transcript exons
ENST00000215855 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000651767 | 25201377 | 25201471 |
| ENSE00000651768 | 25202674 | 25202792 |
| ENSE00000651769 | 25203763 | 25203895 |
| ENSE00000651770 | 25205220 | 25205362 |
| ENSE00001719172 | 25207047 | 25207359 |
| ENSE00001919673 | 25199858 | 25199909 |
Expression profiles
Bgee: expression breadth ubiquitous, 145 present calls, max score 82.07.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3888 / max 341.7285, expressed in 40 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191464 | 0.3888 | 40 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.07 | gold quality |
| buccal mucosa cell | CL:0002336 | 76.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.15 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 73.30 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 72.93 | gold quality |
| right lobe of liver | UBERON:0001114 | 72.91 | gold quality |
| lens of camera-type eye | UBERON:0000965 | 72.56 | silver quality |
| endometrium epithelium | UBERON:0004811 | 69.99 | gold quality |
| biceps brachii | UBERON:0001507 | 67.73 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 67.41 | gold quality |
| secondary oocyte | CL:0000655 | 66.88 | gold quality |
| parotid gland | UBERON:0001831 | 66.80 | gold quality |
| inferior olivary complex | UBERON:0002127 | 66.54 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 65.57 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 65.30 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 65.06 | gold quality |
| nephron tubule | UBERON:0001231 | 65.00 | gold quality |
| deltoid | UBERON:0001476 | 64.91 | gold quality |
| thyroid gland | UBERON:0002046 | 64.79 | gold quality |
| gingival epithelium | UBERON:0001949 | 64.73 | gold quality |
| myocardium | UBERON:0002349 | 64.62 | gold quality |
| medial globus pallidus | UBERON:0002477 | 63.59 | gold quality |
| gingiva | UBERON:0001828 | 63.36 | gold quality |
| esophagus mucosa | UBERON:0002469 | 63.24 | gold quality |
| heart right ventricle | UBERON:0002080 | 63.06 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 62.84 | gold quality |
| globus pallidus | UBERON:0001875 | 62.42 | gold quality |
| liver | UBERON:0002107 | 62.40 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 62.39 | gold quality |
| cartilage tissue | UBERON:0002418 | 62.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
3 targeting CRYBB3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4468 | 98.01 | 66.85 | 1187 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
Literature-anchored findings (GeneRIF, showing 3)
- For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts. (PMID:15914629)
- The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2 (PMID:27256633)
- a common ancestral mutation in CRYBB3 associated with autosomal recessive congenital cataracts identified in four familial cases of Pakistani origin, is reported. (PMID:27326458)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | crybb3 | ENSDARG00000041301 |
| mus_musculus | Crybb3 | ENSMUSG00000029352 |
| rattus_norvegicus | Crybb3 | ENSRNOG00000047673 |
Paralogs (14): CRYBG3 (ENSG00000080200), CRYBB1 (ENSG00000100122), CRYBA1 (ENSG00000108255), CRYBG1 (ENSG00000112297), CRYGD (ENSG00000118231), CRYGN (ENSG00000127377), CRYGC (ENSG00000163254), CRYBA2 (ENSG00000163499), CRYGA (ENSG00000168582), CRYBG2 (ENSG00000176092), CRYGB (ENSG00000182187), CRYBA4 (ENSG00000196431), CRYGS (ENSG00000213139), CRYBB2 (ENSG00000244752)
Protein
Protein identifiers
Beta-crystallin B3 — P26998 (reviewed: P26998)
Alternative names: Beta-B3 crystallin
All UniProt accessions (2): P26998, B1AHR5
UniProt curated annotations — full annotation on UniProt →
Function. Crystallins are the dominant structural components of the vertebrate eye lens.
Subunit / interactions. Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms.
Disease relevance. Cataract 22, multiple types (CTRCT22) [MIM:609741] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Similarity. Belongs to the beta/gamma-crystallin family.
RefSeq proteins (1): NP_004067* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001064 | Beta/gamma_crystallin | Domain |
| IPR011024 | G_crystallin-like | Homologous_superfamily |
| IPR050252 | Beta/Gamma-Crystallin | Family |
Pfam: PF00030
UniProt features (42 total): strand 15, sequence variant 6, helix 5, domain 4, region of interest 3, chain 2, modified residue 2, sequence conflict 2, turn 2, initiator methionine 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3QK3 | X-RAY DIFFRACTION | 1.95 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P26998-F1 | 87.52 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 1, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 52 (showing top):
GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_SENSORY_ORGAN_DEVELOPMENT, MORF_WNT1, MCCABE_HOXC6_TARGETS_CANCER_UP, GOBP_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE, GOMF_STRUCTURAL_CONSTITUENT_OF_EYE_LENS, YOSHIMURA_MAPK8_TARGETS_UP, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, MARTENS_TRETINOIN_RESPONSE_UP, KIM_BIPOLAR_DISORDER_OLIGODENDROCYTE_DENSITY_CORR_DN, GOBP_SENSORY_SYSTEM_DEVELOPMENT, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A12, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY
GO Biological Process (2): lens development in camera-type eye (GO:0002088), visual perception (GO:0007601)
GO Molecular Function (2): structural constituent of eye lens (GO:0005212), protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| sensory perception of light stimulus | 1 |
| structural molecule activity | 1 |
| binding | 1 |
Protein interactions and networks
STRING
1613 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRYBB3 | CRYAA | P02489 | 870 |
| CRYBB3 | GCNT2 | Q8N0V5 | 815 |
| CRYBB3 | CRYAB | P02511 | 814 |
| CRYBB3 | GJA8 | P48165 | 784 |
| CRYBB3 | BFSP1 | Q12934 | 780 |
| CRYBB3 | GJA3 | Q9Y6H8 | 774 |
| CRYBB3 | BFSP2 | Q13515 | 760 |
| CRYBB3 | TRNT1 | Q96Q11 | 756 |
| CRYBB3 | LIM2 | P55344 | 727 |
| CRYBB3 | HSF4 | Q9ULV5 | 699 |
| CRYBB3 | TMEM114 | B3SHH9 | 664 |
| CRYBB3 | PITX3 | O75364 | 611 |
| CRYBB3 | TDRD7 | Q8NHU6 | 593 |
| CRYBB3 | CHMP4B | Q9H444 | 591 |
| CRYBB3 | FOXE3 | Q13461 | 575 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRYBA1 | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CRYBB3 | CRYBA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAJIN | CRYBB3 | psi-mi:“MI:0914”(association) | 0.560 |
| CRYBB3 | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASP6 | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYAA | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DYNC1H1 | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| LAMP2 | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAJIN | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSN2 | CRYBB3 | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | CRYBB3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CRYBB3 | TAB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CRYBB3 | CRYBA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (63): CRYBB3 (Two-hybrid), CRYBB3 (Affinity Capture-MS), TAB1 (Affinity Capture-MS), CRYBA1 (Two-hybrid), DOK6 (Two-hybrid), HIST1H1E (Affinity Capture-MS), CRYBB3 (Affinity Capture-MS), CRYBB3 (Affinity Capture-MS), CRYBB3 (Affinity Capture-MS), PRG3 (Affinity Capture-MS), NLRP2 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), PHLDB3 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS)
ESM2 similar proteins: A2IBH5, A2IBY7, A3KGF7, A4D1Z8, A8MX76, E7F9T0, F6Q2R9, O88644, O89040, P02522, P02523, P02524, P07318, P07530, P13943, P19141, P26998, P43320, P49221, P50281, P53672, P53674, P53690, P55165, P62696, P62697, P62698, Q007T1, Q05714, Q10739, Q2LEC2, Q3UW68, Q4V8Q1, Q5BK10, Q5EF38, Q5RES1, Q6J756, Q6MZZ7, Q91318, Q91320
Diamond homologs: A2IBH5, A2IBY7, A2ICR5, A3RLD7, A3RLD8, A3RLE1, A3RLE2, A4L9I8, A4L9I9, A4QNB6, D3ZEG1, F6Q2R9, O35486, P02522, P02523, P02524, P02525, P02526, P02527, P02528, P02529, P02530, P02531, P04342, P04344, P04345, P05813, P06504, P07315, P07316, P07317, P07318, P07320, P07530, P08209, P0C5E9, P10042, P10043, P10065, P10066
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CRYBB2 | “up-regulates activity” | CRYBB3 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
134 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 4 |
| Uncertain significance | 81 |
| Likely benign | 13 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 143233 | NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) | Pathogenic |
| 16948 | NM_004076.5(CRYBB3):c.493G>C (p.Gly165Arg) | Pathogenic |
| 1704644 | NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu) | Pathogenic |
| 2009486 | NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg) | Likely pathogenic |
| 217351 | NM_004076.5(CRYBB3):c.634T>C (p.Ter212Arg) | Likely pathogenic |
| 3901180 | NM_004076.5(CRYBB3):c.466G>C (p.Gly156Arg) | Likely pathogenic |
| 4456860 | NM_004076.5(CRYBB3):c.470+1G>A | Likely pathogenic |
SpliceAI
1166 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:25205358:GGGAC:G | donor_gain | 1.0000 |
| 22:25205359:GGAC:G | donor_gain | 1.0000 |
| 22:25205359:GGACG:G | donor_gain | 1.0000 |
| 22:25205360:G:GT | donor_gain | 1.0000 |
| 22:25205360:G:T | donor_gain | 1.0000 |
| 22:25205360:GAC:G | donor_gain | 1.0000 |
| 22:25205363:G:GG | donor_gain | 1.0000 |
| 22:25205369:G:T | donor_gain | 1.0000 |
| 22:25201367:T:TA | acceptor_gain | 0.9900 |
| 22:25202788:GGGCC:G | donor_gain | 0.9900 |
| 22:25202789:GGCC:G | donor_gain | 0.9900 |
| 22:25202789:GGCCG:G | donor_gain | 0.9900 |
| 22:25202790:GCC:G | donor_gain | 0.9900 |
| 22:25202790:GCCG:G | donor_gain | 0.9900 |
| 22:25202793:G:GG | donor_gain | 0.9900 |
| 22:25203896:G:GG | donor_gain | 0.9900 |
| 22:25205148:C:CA | acceptor_gain | 0.9900 |
| 22:25205149:G:A | acceptor_gain | 0.9900 |
| 22:25205152:ATCT:A | acceptor_gain | 0.9900 |
| 22:25205153:T:G | acceptor_gain | 0.9900 |
| 22:25205155:T:TA | acceptor_gain | 0.9900 |
| 22:25205218:AGG:A | acceptor_loss | 0.9900 |
| 22:25205219:GGATA:G | acceptor_gain | 0.9900 |
| 22:25205335:TGGC:T | donor_gain | 0.9900 |
| 22:25205336:GGCG:G | donor_gain | 0.9900 |
| 22:25205338:C:T | donor_gain | 0.9900 |
| 22:25205360:GACGT:G | donor_loss | 0.9900 |
| 22:25205361:AC:A | donor_gain | 0.9900 |
| 22:25205361:ACGT:A | donor_loss | 0.9900 |
| 22:25205362:CGTA:C | donor_loss | 0.9900 |
AlphaMissense
1401 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:25207048:T:A | W158R | 0.996 |
| 22:25207048:T:C | W158R | 0.996 |
| 22:25205340:A:C | S150R | 0.994 |
| 22:25205342:T:A | S150R | 0.994 |
| 22:25205342:T:G | S150R | 0.994 |
| 22:25203842:T:A | W92R | 0.992 |
| 22:25203842:T:C | W92R | 0.992 |
| 22:25205322:T:C | F144L | 0.992 |
| 22:25205324:C:A | F144L | 0.992 |
| 22:25205324:C:G | F144L | 0.992 |
| 22:25205341:G:T | S150I | 0.992 |
| 22:25205359:G:A | G156E | 0.992 |
| 22:25203764:T:A | W66R | 0.991 |
| 22:25203764:T:C | W66R | 0.991 |
| 22:25203807:T:A | V80D | 0.991 |
| 22:25205323:T:C | F144S | 0.991 |
| 22:25207050:G:C | W158C | 0.991 |
| 22:25207050:G:T | W158C | 0.991 |
| 22:25203773:T:C | F69L | 0.990 |
| 22:25203775:T:A | F69L | 0.990 |
| 22:25203775:T:G | F69L | 0.990 |
| 22:25205304:A:C | S138R | 0.990 |
| 22:25205306:C:A | S138R | 0.990 |
| 22:25205306:C:G | S138R | 0.990 |
| 22:25205344:T:A | V151D | 0.990 |
| 22:25207055:G:A | G160D | 0.990 |
| 22:25207079:G:T | G168V | 0.990 |
| 22:25202770:T:C | S58P | 0.989 |
| 22:25205358:G:T | G156W | 0.989 |
| 22:25207079:G:A | G168E | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000167961 (22:25204906 C>T), RS1000427188 (22:25199489 A>G), RS1000475372 (22:25199098 T>G), RS1000686992 (22:25205140 A>G), RS1000762776 (22:25199301 T>C), RS1000826307 (22:25198776 A>G), RS1001288390 (22:25205989 T>C), RS1001574200 (22:25205748 G>A,C,T), RS1001587841 (22:25198387 A>C), RS1003438117 (22:25202727 C>T), RS1003438249 (22:25202298 G>A), RS1004245075 (22:25206603 G>A), RS1004361269 (22:25206788 A>G), RS1004383237 (22:25201702 G>A), RS1005498357 (22:25202483 G>A)
Disease associations
OMIM: gene MIM:123630 | disease phenotypes: MIM:609741, MIM:116200
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cataract 22 multiple types | Definitive | Autosomal recessive |
| early-onset anterior polar cataract | Supportive | Autosomal dominant |
| early-onset nuclear cataract | Supportive | Autosomal dominant |
| early-onset non-syndromic cataract | Limited | Autosomal dominant |
Mondo (6): cataract 22 multiple types (MONDO:0012336), cataract (MONDO:0005129), microphthalmia (MONDO:0021129), early-onset non-syndromic cataract (MONDO:0011060), early-onset anterior polar cataract (MONDO:0020373), early-onset nuclear cataract (MONDO:0020376)
Orphanet (1): Early onset non-syndromic cataract (Orphanet:91492)
HPO phenotypes
6 total (8 of 6 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000501 | Glaucoma |
| HP:0000519 | Developmental cataract |
| HP:0003577 | Congenital onset |
| HP:0100018 | Nuclear cataract |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
GWAS associations
0 associations (top):
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002386 | Cataract | C11.510.245 |
| D008850 | Microphthalmos | C11.250.566; C16.131.384.666 |
| C563333 | Cataract, Age-Related Nuclear (supp.) | |
| C565725 | Cataract, Congenital Nuclear, Autosomal Recessive 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases expression, decreases expression, increases abundance | 3 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | affects cotreatment, decreases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Ethanol | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Carbon Tetrachloride | decreases expression | 1 |
| Coal | increases expression, increases abundance | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Endosulfan | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00273221 | PHASE4 | UNKNOWN | Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial |
| NCT00312299 | PHASE4 | COMPLETED | Posterior Capsule Opacification Study |
| NCT00345046 | PHASE4 | COMPLETED | A Comparison of Three Different Formulations of Prednisolone Acetate 1% |
| NCT00347243 | PHASE4 | COMPLETED | Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Intraocular Lenses |
| NCT00347503 | PHASE4 | COMPLETED | Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients |
| NCT00348244 | PHASE4 | COMPLETED | Ketorolac vs. Steroid in the Prevention of CME |
| NCT00348270 | PHASE4 | COMPLETED | Comparison of the Quality of Vision Provided by AMO Tecnis Z9000 and Alcon Laboratories MA60 Acrysof Posterior Chamber Intraocular Lenses |
| NCT00348582 | PHASE4 | COMPLETED | Acular LS vs. Nevanac in Post op Inflammation Following Cataract Surgery |
| NCT00348621 | PHASE4 | COMPLETED | A Study of Interventions to Reduce Disability From Visual Loss in Nursing Home Residents |
| NCT00349583 | PHASE4 | COMPLETED | Efficacy of Topical Cyclosporine Versus Tears for Improving Visual Outcomes Following Multifocal IOL Implantation |
| NCT00355446 | PHASE4 | COMPLETED | Bioavailability of Bimatoprost Ophthalmic Solution in Human Aqueous. |
| NCT00386438 | PHASE4 | COMPLETED | Efficacy of Honan Balloon in Intraocular Pressure Reduction Before Phacoemulsification |
| NCT00392275 | PHASE4 | COMPLETED | Penetrance of Third Generation Fluoroquinolones in Eyes With Functioning Filtering Blebs |
| NCT00428363 | PHASE4 | COMPLETED | Effect of Optic Edge Design in a Silicone Intraocular Lens on Posterior Capsule Opacification |
| NCT00449267 | PHASE4 | COMPLETED | Aurolab Hydrophobic Foldable Intraocular Lens Study |
| NCT00459303 | PHASE4 | COMPLETED | Comparison of Functional Vision Provided by AMO Tecnis Z9000 and Alcon SA60AT Acrysof |
| NCT00469690 | PHASE4 | COMPLETED | Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients: Trough Drug Effects |
| NCT00576485 | PHASE4 | COMPLETED | Spherical Aberration and Contrast Sensitivity in IOLs |
| NCT00612729 | PHASE4 | COMPLETED | Light Filters in Intraocular Lenses (IOLs) and Its Influence on Colour and Contrast Vision. |
| NCT00612781 | PHASE4 | COMPLETED | Yellow Versus White Study |
| NCT00630019 | PHASE4 | COMPLETED | Ocular Tissue Levels of 1.5% Levofloxacin Ophthalmic Solution Compared to an Active Comparator |
| NCT00673803 | PHASE4 | COMPLETED | Influence of Two Different Preloaded Intraocular Lens (IOLs) on Posterior Capsule Opacification |
| NCT00684138 | PHASE4 | COMPLETED | ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL) |
| NCT00698724 | PHASE4 | COMPLETED | Comparing Optical Coherence Tomography (OCT) and Visual Acuity Outcomes in Subjects Undergoing Cataract Surgery, Who Receive Xibrom Ophthalmic Solution and Standard Presurgical Care vs. Xibrom Ophthalmic Solution Plus Prednisolone Acetate 1% and Standard Presurgical Care |
| NCT00710905 | PHASE4 | TERMINATED | Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3 |
| NCT00710931 | PHASE4 | COMPLETED | Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1 |
| NCT00711347 | PHASE4 | COMPLETED | Intraoperative Floppy Iris Syndrome |
| NCT00712244 | PHASE4 | COMPLETED | DisCoVisc Versus DuoVisc, Healon5 and AmVisc Plus |
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00719732 | PHASE4 | COMPLETED | Visual Function After Implantation of Bilateral AcrySof ReSTOR Aspheric +3 |
| NCT00721253 | PHASE4 | COMPLETED | Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA |
| NCT00731640 | PHASE4 | COMPLETED | Contralateral ReSTOR / Monofocal or Phakic Eye |
| NCT00732030 | PHASE4 | COMPLETED | Low Cylinder Toric |
| NCT00758199 | PHASE4 | COMPLETED | Determination of Optimum Duration of Treatment With Bromfenac (Xibrom) Eyedrops Following Cataract Surgery |
| NCT00760058 | PHASE4 | WITHDRAWN | Visual Outcome and Visual Quality After Bilateral Implantation of the AcrySof® IQ IOL Compared to MI60® and Tecnis® IOL |
| NCT00760487 | PHASE4 | COMPLETED | Visual Function After Implantation of Bilateral AcrySof® Toric Natural Intraocular Lens |
| NCT00761488 | PHASE4 | WITHDRAWN | Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric |
| NCT00763360 | PHASE4 | COMPLETED | To Compare the Ability of DiscoVisc® OVD to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery. |
| NCT00786370 | PHASE4 | COMPLETED | Dexmedetomidine vs. Propofol for Cataract Surgery |
| NCT00786565 | PHASE4 | COMPLETED | Clinical Evaluation of a New Aspheric Intraocular Lens. |
Related Atlas pages
- Associated diseases: early-onset non-syndromic cataract, cataract 22 multiple types, early-onset anterior polar cataract, early-onset nuclear cataract
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cataract, cataract 22 multiple types, early-onset anterior polar cataract, early-onset non-syndromic cataract, early-onset nuclear cataract, microphthalmia