CRYBA4
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Summary
CRYBA4 (crystallin beta A4, HGNC:2396) is a protein-coding gene on chromosome 22q12.1, encoding Beta-crystallin A4 (P53673). 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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3.
Source: NCBI Gene 1413 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cataract 23 (Definitive, GenCC) — +2 more curated relationships
- Clinical variants (ClinVar): 222 total — 8 pathogenic, 11 likely-pathogenic
- Phenotypes (HPO): 10
- MANE Select transcript:
NM_001886
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2396 |
| Approved symbol | CRYBA4 |
| Name | crystallin beta A4 |
| Location | 22q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000196431 |
| Ensembl biotype | protein_coding |
| OMIM | 123631 |
| Entrez | 1413 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000354760, ENST00000466315
RefSeq mRNA: 1 — MANE Select: NM_001886
NM_001886
CCDS: CCDS13841
Canonical transcript exons
ENST00000354760 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000651923 | 26623234 | 26623352 |
| ENSE00001389287 | 26621963 | 26621986 |
| ENSE00001391829 | 26630340 | 26630669 |
| ENSE00003601915 | 26622585 | 26622635 |
| ENSE00003680206 | 26625481 | 26625622 |
| ENSE00003690484 | 26628288 | 26628430 |
Expression profiles
Bgee: expression breadth broad, 72 present calls, max score 81.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4367 / max 334.3181, expressed in 54 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191512 | 0.4367 | 54 |
Top tissues by expression
206 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 | 81.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.82 | gold quality |
| frontal pole | UBERON:0002795 | 67.98 | gold quality |
| paraflocculus | UBERON:0005351 | 67.65 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 67.59 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 66.79 | gold quality |
| endometrium epithelium | UBERON:0004811 | 59.40 | gold quality |
| cerebellar vermis | UBERON:0004720 | 56.47 | gold quality |
| thymus | UBERON:0002370 | 55.75 | silver quality |
| granulocyte | CL:0000094 | 55.07 | gold quality |
| right testis | UBERON:0004534 | 53.02 | gold quality |
| left testis | UBERON:0004533 | 52.95 | gold quality |
| quadriceps femoris | UBERON:0001377 | 52.71 | gold quality |
| testis | UBERON:0000473 | 51.99 | gold quality |
| vastus lateralis | UBERON:0001379 | 51.19 | gold quality |
| bone marrow cell | CL:0002092 | 49.89 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 49.50 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| renal glomerulus | UBERON:0000074 | 48.88 | gold quality |
| corpus epididymis | UBERON:0004359 | 48.62 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 47.79 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 47.60 | gold quality |
| spleen | UBERON:0002106 | 47.45 | gold quality |
| periodontal ligament | UBERON:0008266 | 47.14 | gold quality |
| nephron tubule | UBERON:0001231 | 46.71 | gold quality |
| colonic epithelium | UBERON:0000397 | 46.37 | gold quality |
| prefrontal cortex | UBERON:0000451 | 46.27 | gold quality |
| buccal mucosa cell | CL:0002336 | 46.06 | gold quality |
| trachea | UBERON:0003126 | 45.55 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8060 | yes | 339.29 |
| E-ANND-3 | no | 1.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting CRYBA4, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-5707 | 96.34 | 66.10 | 89 |
| HSA-MIR-1281 | 92.96 | 65.73 | 260 |
Literature-anchored findings (GeneRIF, showing 6)
- first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia (PMID:16960806)
- Novel missense mutation in CRYBA4 expands mutation spectrum of CRYBA4 and provides useful information to study of molecular pathogenesis of cataract and microcornea. (PMID:20577656)
- rs2009066 located in the crystallin beta A4 (CRYBA4) gene was identified to be the most significantly associated with high myopia. (PMID:22792142)
- CRYBA4 duplication and CRYBB1 partial duplication identified in a family with autosomal dominant congenital cataract. (PMID:28272538)
- his study provides important reference value when narrowing down the number of pathogenic CRYBA4 nsSNPs and studying the pathogenesis of congenital cataracts. By using this method, we can easily find 44 high-risk pathogenic nsSNPs out of 157 CRYBA4 nsSNPs (PMID:31935276)
- A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family. (PMID:35840783)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cryba4 | ENSDARG00000024548 |
| mus_musculus | Cryba4 | ENSMUSG00000066975 |
| rattus_norvegicus | Cryba4 | ENSRNOG00000049770 |
Paralogs (14): CRYBG3 (ENSG00000080200), CRYBB3 (ENSG00000100053), CRYBB1 (ENSG00000100122), CRYBA1 (ENSG00000108255), CRYBG1 (ENSG00000112297), CRYGD (ENSG00000118231), CRYGN (ENSG00000127377), CRYGC (ENSG00000163254), CRYBA2 (ENSG00000163499), CRYGA (ENSG00000168582), CRYBG2 (ENSG00000176092), CRYGB (ENSG00000182187), CRYGS (ENSG00000213139), CRYBB2 (ENSG00000244752)
Protein
Protein identifiers
Beta-crystallin A4 — P53673 (reviewed: P53673)
Alternative names: Beta-A4 crystallin
All UniProt accessions (2): A0A097PIJ6, P53673
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 23, multiple types (CTRCT23) [MIM:610425] 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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. 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_001877* (*=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 (36 total): strand 13, helix 7, sequence variant 5, domain 4, turn 2, region of interest 2, initiator methionine 1, chain 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3LWK | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53673-F1 | 91.64 | 0.84 |
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 (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
| R-HSA-3371511 | HSF1 activation |
| R-HSA-3371568 | Attenuation phase |
| R-HSA-3371571 | HSF1-dependent transactivation |
MSigDB gene sets: 102 (showing top):
MORF_RAGE, MODULE_45, MODULE_16, MARTINEZ_RB1_TARGETS_UP, MODULE_205, MORF_FANCG, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, MORF_PML, GOBP_SENSORY_PERCEPTION, MORF_IKBKG, GOBP_SENSORY_ORGAN_DEVELOPMENT, MODULE_18, MODULE_60, MORF_MT4, GOBP_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE
GO Biological Process (3): lens development in camera-type eye (GO:0002088), visual perception (GO:0007601), camera-type eye development (GO:0043010)
GO Molecular Function (3): structural constituent of eye lens (GO:0005212), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (0):
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cellular response to heat stress | 3 |
| HSF1-dependent transactivation | 1 |
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 |
| eye development | 1 |
| structural molecule activity | 1 |
| protein binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
503 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRYBA4 | CRYAA | P02489 | 878 |
| CRYBA4 | CRYAB | P02511 | 808 |
| CRYBA4 | GJA3 | Q9Y6H8 | 761 |
| CRYBA4 | GJA8 | P48165 | 758 |
| CRYBA4 | BFSP1 | Q12934 | 748 |
| CRYBA4 | BFSP2 | Q13515 | 734 |
| CRYBA4 | LIM2 | P55344 | 675 |
| CRYBA4 | TMEM114 | B3SHH9 | 640 |
| CRYBA4 | PITX3 | O75364 | 633 |
| CRYBA4 | HSF4 | Q9ULV5 | 630 |
| CRYBA4 | CHMP4B | Q9H444 | 626 |
| CRYBA4 | GRIFIN | A4D1Z8 | 625 |
| CRYBA4 | FOXE3 | Q13461 | 593 |
| CRYBA4 | LGSN | Q5TDP6 | 586 |
| CRYBA4 | MIP | P30301 | 553 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP76 | CRYBA4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CRYBA4 | CEP76 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CRYBA4 | CRYBB1 | psi-mi:“MI:0915”(physical association) | 0.730 |
| CRYBA4 | CRYBB1 | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| CRYBA4 | CRYBB1 | psi-mi:“MI:0914”(association) | 0.730 |
| CRYBB1 | CRYBA4 | psi-mi:“MI:0915”(physical association) | 0.730 |
| CRYBA4 | CRYBA4 | psi-mi:“MI:0915”(physical association) | 0.630 |
| CRYBA4 | CRYBA4 | psi-mi:“MI:0407”(direct interaction) | 0.630 |
| CRYBA4 | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | FHL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | TRIP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | C1orf94 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | GLI1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | EFEMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CRYBA4 | CCDC33 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | STX11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBA4 | MIF4GD | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (42): CEP76 (Two-hybrid), C1orf94 (Two-hybrid), CCDC33 (Two-hybrid), CEP76 (Two-hybrid), EFEMP1 (Two-hybrid), FHL5 (Two-hybrid), GLI1 (Two-hybrid), IKZF3 (Two-hybrid), MIF4GD (Two-hybrid), PRR22 (Two-hybrid), STX11 (Two-hybrid), TRIP6 (Two-hybrid), EML5 (Affinity Capture-MS), DDB2 (Affinity Capture-MS), RBP4 (Affinity Capture-MS)
ESM2 similar proteins: A2IBY7, A3RLD7, A3RLD8, A3RLE1, A4L9I8, O35486, P02527, P02528, P02529, P02530, P02531, P04342, P04344, P04345, P06504, P07315, P07316, P07320, P08209, P0C5E9, P10065, P10066, P10067, P10068, P10112, P11844, P22914, P23005, P26444, P48646, P48647, P48649, P49152, P53673, P55164, P55940, P55941, Q03740, Q06254, Q06255
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 18 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| visual perception | 5 | 26.5× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
222 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 11 |
| Uncertain significance | 105 |
| Likely benign | 48 |
| Benign | 31 |
Top pathogenic / likely-pathogenic (19)
| Variant ID | HGVS | Classification |
|---|---|---|
| 16946 | NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser) | Pathogenic |
| 16947 | NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro) | Pathogenic |
| 427575 | NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp) | Pathogenic |
| 427749 | NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg) | Pathogenic |
| 4796486 | NM_001887.4(CRYBB1):c.576-637_587del | Pathogenic |
| 4796487 | NM_001886.3(CRYBA4):c.220T>C (p.Tyr74His) | Pathogenic |
| 574493 | NM_001887.4(CRYBB1):c.585del (p.Tyr196fs) | Pathogenic |
| 8687 | NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter) | Pathogenic |
| 1176010 | NM_001887.4(CRYBB1):c.211G>A (p.Gly71Ser) | Likely pathogenic |
| 1343240 | NM_001886.3(CRYBA4):c.277T>C (p.Ser93Pro) | Likely pathogenic |
| 1679950 | NM_001887.4(CRYBB1):c.419G>C (p.Arg140Pro) | Likely pathogenic |
| 217329 | NM_001887.4(CRYBB1):c.368G>A (p.Arg123His) | Likely pathogenic |
| 2737022 | NM_001887.4(CRYBB1):c.698G>A (p.Arg233His) | Likely pathogenic |
| 3065113 | NM_001887.4(CRYBB1):c.2T>A (p.Met1Lys) | Likely pathogenic |
| 3587868 | NM_001887.4(CRYBB1):c.387C>G (p.Ser129Arg) | Likely pathogenic |
| 369847 | hg19chr22:g.26995597_27074524dup | Likely pathogenic |
| 3779548 | NM_001887.4(CRYBB1):c.482del (p.Gly161fs) | Likely pathogenic |
| 4085351 | NM_001887.4(CRYBB1):c.601_604del (p.Tyr201fs) | Likely pathogenic |
| 965311 | NM_001886.3(CRYBA4):c.198_200del (p.Gln66_Tyr67delinsHis) | Likely pathogenic |
SpliceAI
523 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:26623226:T:A | acceptor_gain | 1.0000 |
| 22:26623342:C:G | donor_gain | 1.0000 |
| 22:26623348:GGAGC:G | donor_gain | 1.0000 |
| 22:26623349:GAGCG:G | donor_gain | 1.0000 |
| 22:26623351:GC:G | donor_gain | 1.0000 |
| 22:26623353:G:GG | donor_gain | 1.0000 |
| 22:26625623:G:GG | donor_gain | 1.0000 |
| 22:26628283:TGTA:T | acceptor_loss | 1.0000 |
| 22:26628284:GTA:G | acceptor_loss | 1.0000 |
| 22:26628285:TAG:T | acceptor_loss | 1.0000 |
| 22:26628286:A:AG | acceptor_gain | 1.0000 |
| 22:26628287:G:A | acceptor_loss | 1.0000 |
| 22:26628287:G:GT | acceptor_gain | 1.0000 |
| 22:26628287:GA:G | acceptor_gain | 1.0000 |
| 22:26628287:GAAC:G | acceptor_gain | 1.0000 |
| 22:26628287:GAACC:G | acceptor_gain | 1.0000 |
| 22:26628347:A:T | donor_gain | 1.0000 |
| 22:26628390:G:T | donor_gain | 1.0000 |
| 22:26628399:G:GT | donor_gain | 1.0000 |
| 22:26628402:G:GG | donor_gain | 1.0000 |
| 22:26628426:GGGGC:G | donor_gain | 1.0000 |
| 22:26628427:GGGC:G | donor_gain | 1.0000 |
| 22:26628427:GGGCG:G | donor_gain | 1.0000 |
| 22:26628428:GGC:G | donor_gain | 1.0000 |
| 22:26628428:GGCG:G | donor_gain | 1.0000 |
| 22:26628429:GC:G | donor_gain | 1.0000 |
| 22:26628429:GCG:G | donor_gain | 1.0000 |
| 22:26628431:G:GG | donor_gain | 1.0000 |
| 22:26630335:TCCA:T | acceptor_loss | 1.0000 |
| 22:26630337:CA:C | acceptor_loss | 1.0000 |
AlphaMissense
1283 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:26625482:T:A | W54R | 0.993 |
| 22:26625482:T:C | W54R | 0.993 |
| 22:26625491:T:C | F57L | 0.992 |
| 22:26625493:T:A | F57L | 0.992 |
| 22:26625493:T:G | F57L | 0.992 |
| 22:26625603:T:C | F94S | 0.991 |
| 22:26630464:A:C | S190R | 0.991 |
| 22:26630465:G:T | S190I | 0.991 |
| 22:26630466:C:A | S190R | 0.991 |
| 22:26630466:C:G | S190R | 0.991 |
| 22:26630341:T:A | W149R | 0.990 |
| 22:26630341:T:C | W149R | 0.990 |
| 22:26630471:G:C | R192P | 0.989 |
| 22:26625489:G:A | G56D | 0.988 |
| 22:26628315:T:C | F110L | 0.986 |
| 22:26628317:C:A | F110L | 0.986 |
| 22:26628317:C:G | F110L | 0.986 |
| 22:26630347:T:C | C151R | 0.986 |
| 22:26630475:G:C | R193S | 0.985 |
| 22:26630475:G:T | R193S | 0.985 |
| 22:26625606:G:C | R95P | 0.984 |
| 22:26630431:T:A | W179R | 0.984 |
| 22:26630431:T:C | W179R | 0.984 |
| 22:26625488:G:C | G56R | 0.983 |
| 22:26625542:T:G | Y74D | 0.983 |
| 22:26628418:T:A | V144D | 0.983 |
| 22:26630349:C:G | C151W | 0.982 |
| 22:26630372:G:A | G159E | 0.981 |
| 22:26630474:G:T | R193M | 0.981 |
| 22:26623330:T:C | S46P | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000021247 (22:26630371 G>A), RS1000065306 (22:26621333 T>C), RS1000106932 (22:26607990 C>A,G,T), RS1000142670 (22:26589581 C>T), RS1000196878 (22:26589736 C>A), RS1000307065 (22:26612508 CCCA>C), RS1000330419 (22:26595326 C>A,T), RS1000342443 (22:26623624 T>C), RS1000396697 (22:26630436 C>A), RS1000431288 (22:26595533 C>G,T), RS1000473720 (22:26589264 C>T), RS1000489042 (22:26611486 G>T), RS1000612265 (22:26613604 A>G), RS1000643517 (22:26613849 CA>C), RS1000675947 (22:26619852 G>A)
Disease associations
OMIM: gene MIM:123631 | disease phenotypes: MIM:610425, MIM:611544, MIM:601371
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cataract 23 | Definitive | Autosomal dominant |
| cataract - microcornea syndrome | Supportive | Autosomal dominant |
| early-onset lamellar cataract | Supportive | Autosomal dominant |
Mondo (5): cataract 23 (MONDO:0012489), cataract 17 multiple types (MONDO:0012688), early-onset non-syndromic cataract (MONDO:0011060), cataract - microcornea syndrome (MONDO:0015300), early-onset lamellar cataract (MONDO:0018611)
Orphanet (1): Early onset non-syndromic cataract (Orphanet:91492)
HPO phenotypes
10 total (10 of 10 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000482 | Microcornea |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0001131 | Corneal dystrophy |
| HP:0007957 | Corneal opacity |
| HP:0007971 | Lamellar cataract |
| HP:0100018 | Nuclear cataract |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C538287 | Cataract microcornea syndrome (supp.) | |
| C566923 | Cataract, Congenital Nuclear, Autosomal Recessive 3 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression, affects expression, increases methylation | 8 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: cataract 23, cataract - microcornea syndrome, early-onset lamellar cataract
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cataract - microcornea syndrome, cataract 17 multiple types, cataract 23, early-onset lamellar cataract, early-onset non-syndromic cataract