CRYBA1 (crystallin beta A1)

Gene

• Entrez ID: 1411
• Gene name: Crystallin beta A1
• Gene symbol: CRYBA1
• Synonyms (NCBI Gene): CRYB1, CTRCT10
• Chromosome: 17
• Chromosome location: 17q11.2
• 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
rs775038545	G>A,C,T	Likely-pathogenic	Splice donor variant
rs786205628	AGAG>-,AG	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797219	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1264025914	G>A,T	Pathogenic	Splice donor variant
rs1555547008	GTGGGTATC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567671947	CA>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018067	hsa-miR-335-5p	Microarray	18185580
MIRT1970193	hsa-miR-214	CLIP-seq
MIRT1970194	hsa-miR-3143	CLIP-seq
MIRT1970195	hsa-miR-3619-5p	CLIP-seq
MIRT1970196	hsa-miR-4291	CLIP-seq
MIRT1970197	hsa-miR-488	CLIP-seq
MIRT1970198	hsa-miR-543	CLIP-seq
MIRT1970199	hsa-miR-646	CLIP-seq
MIRT1970200	hsa-miR-761	CLIP-seq
MIRT1970201	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	17046756, 21516116, 25416956, 25910212, 32296183
GO:0006909	Process	Phagocytosis	IEA
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	NAS	8999933
GO:0010506	Process	Regulation of autophagy	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:2000210	Process	Positive regulation of anoikis	IEA

Other IDs

• MIM: 123610
• HGNC: 2394
• e!Ensembl: ENSG00000108255

Protein

• UniProt ID: P05813
• Protein name: Beta-crystallin A3 [Cleaved into: Beta-crystallin A3, isoform A1, Delta4 form; Beta-crystallin A3, isoform A1, Delta7 form; Beta-crystallin A3, isoform A1, Delta8 form]
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	32 → 116	Beta/Gamma crystallin	Domain
  PF00030	Crystall	125 → 213	Beta/Gamma crystallin	Domain

• Sequence:

  METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSF
  DNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAYHIERLMSFRPICSAN
  HKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQ
  YILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ

• Sequence length: 215

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 10 multiple types	Pathogenic; Likely pathogenic	rs1264025914, rs2153009764, rs775038545, rs745555171, rs2545741796, rs1064797219, rs1555547008, rs1567671947	RCV001385882 RCV001542604 RCV003992534 RCV001780883 RCV002466853 RCV000490399 RCV001040033 RCV000530803 RCV000018463 RCV000678553 RCV000694288	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRYBA1-related disorder	Pathogenic; Likely pathogenic	rs1264025914	RCV003898364 RCV003892402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATARACT 10 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 10, MULTIPLE TYPE S	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR POLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SUTURAL CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR SUBCAPSULAR CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	2491776		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10585769, 14598164, 15016766, 21850182, 22665976, 31488069		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	14693780, 18587492, 20142846, 21139983, 21850182, 22665976, 22919269, 24319337, 29914532, 31488069, 37165913, 38216115, 9788845	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	28120589	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Congenital Zonular with Sutural Opacities	Congenital cataract	Pubtator	9788845	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	21686330, 22665976	Associate	★☆☆☆☆ Found in Text Mining only
Cataract, Central Saccular, With Sutural Opacities	Cataract	ORPHANET_DG	9788845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Zonular, with Sutural Opacities	Congenital Cataract	CLINVAR_DG	14598164, 20142846, 21850182, 22919269, 9788845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Zonular, with Sutural Opacities	Congenital Cataract	GENOMICS_ENGLAND_DG	14598164, 26303524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Zonular, with Sutural Opacities	Congenital Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	17653060, 20142846, 22665976, 24926697, 29364738, 31488069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	BEFREE	31488069		★☆☆☆☆ Found in Text Mining only
Early-onset lamellar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset posterior polar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset sutural cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	BEFREE	14598164, 21686330, 29364738		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	31488069	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	2491776	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29700475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	30098172		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	2491776, 2491783		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	21686330, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	29364738		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	21686330, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	29364738		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	31488069	Associate	★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	31462148		★☆☆☆☆ Found in Text Mining only
Polar cataract	Cataract	BEFREE	20142846		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	ORPHANET_DG	20142846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations