Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	1419
Gene name	Crystallin gamma B
Gene symbol	CRYGB
Synonyms (NCBI Gene)	CRYG2CTRCT39
Chromosome	2
Chromosome location	2q33.3
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

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Transcription factor	Regulation	Reference
HSF1	Unknown	19250318

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	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:0005212	Function	Structural constituent of eye lens	NAS	12507494
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	NAS	12507494
GO:0070307	Process	Lens fiber cell development	IEA
GO:0070309	Process	Lens fiber cell morphogenesis	IEA

MIM	HGNC	e!Ensembl
123670	2409	ENSG00000182187

P07316

Protein name

Gamma-crystallin B (Gamma-B-crystallin) (Gamma-crystallin 1-2)

Protein function

Crystallins are the dominant structural components of the vertebrate eye lens.

PDB

2JDF , 2JDG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00030	Crystall	3 → 82	Beta/Gamma crystallin	Domain
PF00030	Crystall	90 → 171	Beta/Gamma crystallin	Domain

Sequence

MGKITFYEDRAFQGRSYECTTDCPNLQPYFSRCNSIRVESGCWMIYERPNYQGHQYFLRR
GEYPDYQQWMGLSDSIRSCCLIPPHSGAYRMKIYDRDELRGQMSELTDDCISVQDRFHLT
EIHSLNVLEGSWILYEMPNYRGRQYLLRPGEYRRFLDWGAPNAKVGSLRRVMDLY

Sequence length

175

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 39 multiple types	Pathogenic	rs387907342	RCV000034854	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CATARACT 39 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 39, MULTIPLE TYPE S	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYGB-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ANTERIOR POLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	8733140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	19262743, 19384013, 23288985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	21941057, 23288985		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 39, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	21941057		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 39, MULTIPLE TYPES	Cataract	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 39, MULTIPLE TYPES	Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	23288985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract zonular	Congenital cataract	Pubtator	23288985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	ORPHANET_DG	23288985		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital total cataract	Congenital Cataract	ORPHANET_DG	23288985		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	36222281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset anterior polar cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset lamellar cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Total early-onset cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CRYGB (crystallin gamma B)