CRYBB1 (crystallin beta B1)

Gene

• Entrez ID: 1414
• Gene name: Crystallin beta B1
• Gene symbol: CRYBB1
• Synonyms (NCBI Gene): CATCN3, CTRCT17
• 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
rs74315488	C>A	Pathogenic	Stop gained, coding sequence variant
rs1114167432	A>G	Pathogenic	Terminator codon variant, stop lost
rs1569203234	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT911171	hsa-miR-296-3p	CLIP-seq
MIRT911172	hsa-miR-3154	CLIP-seq
MIRT911173	hsa-miR-3185	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, 21044950, 21516116, 25416956, 25910212, 31254514, 32296183
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	TAS	8626774

Other IDs

• MIM: 600929
• HGNC: 2397
• e!Ensembl: ENSG00000100122

Protein

• UniProt ID: P53674
• Protein name: Beta-crystallin B1 (Beta-B1 crystallin)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 1OKI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	60 → 142	Beta/Gamma crystallin	Domain
  PF00030	Crystall	150 → 232	Beta/Gamma crystallin	Domain

• Sequence:

  MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYR
  LVVFELENFQGRRAEFSGECSNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGE
  YPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFKGNTIEIQGDDAPSLWVYGFS
  DRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
  GSFPVLATEPPK

• Sequence length: 252

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 17	Likely pathogenic; Pathogenic	rs1064793935	RCV001254599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 17 multiple types	Likely pathogenic; Pathogenic	rs752315498, rs2518949706, rs74315488, rs575368335, rs1929354169, rs1064793935, rs1114167433, rs1569203234	RCV002237200 RCV004548308 RCV000009224 RCV003509038 RCV003990190 RCV000009225 RCV000490646 RCV000696435	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Likely pathogenic	rs864309682	RCV000203364	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT - MICROCORNEA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 17 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 17, MULTIPLE TYPE S	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT MICROCORNEA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-MICROCORNEA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYBB1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	20565250		★☆☆☆☆ Found in Text Mining only
Ametropia	Ametropia	BEFREE	22267527		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34402193	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	12360425, 17531125, 27318838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	12360425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	12360425, 16110300, 18432316, 19071118, 21264232, 24319337, 26622071, 27318838, 28272538, 28928627, 29386872, 29914532, 32854469, 33243271, 33594837, 36161833, 37356717	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	LHGDN	16110300, 17531125, 18432316		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 17, MULTIPLE TYPES	Cataract	UNIPROT_DG	12360425, 17460281, 23508780		★☆☆☆☆ Found in Text Mining only
CATARACT 17, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	17460281, 29386872		★☆☆☆☆ Found in Text Mining only
CATARACT 17, MULTIPLE TYPES	Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	28928627	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	ORPHANET_DG	16110300, 21972112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	16110300, 21972112, 23159606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract microcornea syndrome	Cataract	BEFREE	21972112, 23159606, 27208166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract Nuclear Progressive	Congenital cataract	Pubtator	18432316, 27318838	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Pulverulent	Congenital cataract	Pubtator	19461930, 26622071	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	12360425		★☆☆☆☆ Found in Text Mining only
Cataract, Congenital Nuclear, Autosomal Recessive 3	Congenital Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Congenital Nuclear, Autosomal Recessive 3	Congenital Cataract	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	ORPHANET_DG	12360425, 19461930, 22267527		★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	19461930, 22267527		★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	ORPHANET_DG	12360425, 19461930, 22267527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	BEFREE	19461930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract-microcornea syndrome	Cataract-microcornea syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25117815	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	16110300, 17460281, 17531125, 18432316, 19461930, 21972112, 23159606, 28272538, 28928627, 30364188, 31566446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	BEFREE	18432316, 27318838		★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	16110300		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	31566446		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26593886		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	17460281, 18432316, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	17460281, 18432316, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	12360425		★☆☆☆☆ Found in Text Mining only
Pulverulent cataract	Pulverulent Cataract	Orphanet			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26593886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	BEFREE	22267527		★☆☆☆☆ Found in Text Mining only