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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract 23	Likely pathogenic; Pathogenic	rs2145980854, rs74315486, rs74315487, rs1114167427, rs1929675709	RCV002221291 RCV000018455 RCV000018456 RCV000490558 RCV001239728

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Benign; Likely benign	rs148454808	RCV005907092
CRYBA4-related disorder	Uncertain significance; Benign; Likely benign	rs2145979078, rs149353652, rs143137736, rs148454808, rs117467748	RCV003418275 RCV003962584 RCV003980013 RCV003908271 RCV003930388
Developmental cataract	Benign; Likely benign	rs142090709	RCV000203338
Lung cancer	Benign; Likely benign	rs117467748	RCV005907094
Malignant lymphoma, large B-cell, diffuse	Benign	rs74847916	RCV005915196

Associations from Text Mining
Disease Name	Relationship Type	References
Cataract	Associate	12360425, 16960806, 24319337, 28272538, 28450710, 29914532, 31935276, 33594837, 34304179
Genetic Diseases Inborn	Associate	28418495
Hyperferritinemia hereditary with congenital cataracts	Associate	28450710
Microphthalmos	Associate	16960806