CRYBA4 (crystallin beta A4)

Gene

• Entrez ID: 1413
• Gene name: Crystallin beta A4
• Gene symbol: CRYBA4
• Synonyms (NCBI Gene): CTRCT23, CYRBA4, MCOPCT4
• Chromosome: 22
• Chromosome location: 22q12.1
• Summary: 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 l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315486	T>C	Pathogenic	Coding sequence variant, missense variant
rs74315487	T>C	Pathogenic	Coding sequence variant, missense variant
rs1114167427	G>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT911165	hsa-miR-3612	CLIP-seq
MIRT911166	hsa-miR-377	CLIP-seq
MIRT911167	hsa-miR-4716-3p	CLIP-seq
MIRT911168	hsa-miR-4723-5p	CLIP-seq
MIRT911169	hsa-miR-5095	CLIP-seq
MIRT911170	hsa-miR-650	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	17662718, 25416956, 25910212, 31254514, 31515488
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IMP	16960806
GO:0007601	Process	Visual perception	NAS	8999933
GO:0042802	Function	Identical protein binding	IPI	31254514
GO:0043010	Process	Camera-type eye development	IMP	16960806

Other IDs

• MIM: 123631
• HGNC: 2396
• e!Ensembl: ENSG00000196431

Protein

• UniProt ID: P53673
• Protein name: Beta-crystallin A4 (Beta-A4 crystallin)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 3LWK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	13 → 97	Beta/Gamma crystallin	Domain
  PF00030	Crystall	106 → 194	Beta/Gamma crystallin	Domain

• Sequence:

  MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHA
  GFQGQQYILERGEYPSWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKG
  ELSDDYPSLQAMGWEGNEVGSFHVHSGAWVCSQFPGYRGFQYVLECDHHSGDYKHFREWG
  SHAPTFQVQSIRRIQQ

• Sequence length: 196

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cataract 23	Likely pathogenic; Pathogenic	rs2145980854, rs74315486, rs74315487, rs1114167427, rs1929675709	RCV002221291 RCV000018455 RCV000018456 RCV000490558 RCV001239728	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATARACT - MICROCORNEA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 17, MULTIPLE TYPE S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 23, MULTIPLE TYPE S	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT MICROCORNEA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-MICROCORNEA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYBA4-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cataract	Cataract	BEFREE	12360425, 16960806, 19262743, 20577656		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	12360425, 16960806, 24319337, 28272538, 28450710, 29914532, 31935276, 33594837, 34304179	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT 23, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	16960806, 20577656		★☆☆☆☆ Found in Text Mining only
CATARACT 23, MULTIPLE TYPES	Cataract	UNIPROT_DG	16960806, 20577656		★☆☆☆☆ Found in Text Mining only
CATARACT 23, MULTIPLE TYPES	Cataract	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CATARACT 23, MULTIPLE TYPES	Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	ORPHANET_DG	20577656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, MARNER TYPE	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract-microcornea syndrome	Cataract-microcornea syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	20577656, 28272538, 31254514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30820959		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset lamellar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia hereditary with congenital cataracts	Hyperferritinemia	Pubtator	28450710	Associate	★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	20577656		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	16960806, 19526372		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	16960806	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	22792142		★☆☆☆☆ Found in Text Mining only