1. Gene
  2. CRYGB - crystallin gamma B Gene

CRYGB - crystallin gamma B Gene

Homo sapiens

Also known as CRYG2; CTRCT39

Gene ID: 1419 | Gene type: protein coding

About CRYGB

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:208,142,573-208,146,158 (from NCBI)

This gene has 1 transcript (splice variant), 54 orthologues, 14 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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 lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting Peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]

CRYGB Products(1)

mRNA Protein Name
NM_005210.4 NP_005201.2 gamma-crystallin B
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYGB Protein Structure

Crystall

Crystall: Beta/Gamma crystallin (3 - 82)

Crystall

Crystall: Beta/Gamma crystallin (90 - 171)

  • 0
  • 100
  • 175 a.a.
Protein Preferred Names Protein Names

gamma-crystallin B

crystallin, gamma 1-2

Related Diseases

Diseases Alias
Cataract 39, Multiple Types

CTRCT39

Cataract 39 Multiple Types

Cataract 39, Multiple Types, Autosomal Dominant

Autosomal Dominant Cataract 39 Multiple Types

Cataract, Type 39, Multiple Types

Cataract 24

CTRCT24

Cataract 24, Anterior Polar

Cataract, Anterior Polar, 2

Ctaa2

Anterior Polar Cataract 2

Early-Onset Anterior Polar Cataract

Early-Onset Anterior Subcapsular Cataract

Anterior Polar Cataract 24

Cataract Anterior Polar

Cataract, Anterior Polar-2

Cataract, Anterior Polar

Early-Onset Lamellar Cataract
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Abruzzo-Erickson Syndrome

Abruzzo Erickson Syndrome

ABERS

Charge-Like Syndrome, X-Linked

Cleft Palate-Coloboma-Deafness Syndrome

Charge Like Syndrome X-Linked

Charge-Like Syndrome

Cleft Palate-Coloboma-Hearing Loss Syndrome

X-Linked Charge-Like Syndrome

Night Blindness, Congenital Stationary, Type 2a

Congenital Stationary Night Blindness 2a

CSNB2A

Csnb2

Csnb, Incomplete, X-Linked

Night Blindness, Congenital Stationary, Type 2

Night Blindness, Congenital Stationary , 2a, X-Linked

Congenital Stationary Night Blindness 2a X-Linked

Night Blindness, Congenital Stationary, 2a

Congenital Stationary Night Blindness Type 2

Incomplete X-Linked Csnb

Night Blindness, Congenital Stationary, X-Linked, Type 2a

Blindness, Night, Stationary, Congenital, Type 2a

Congenital Aphakia

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens

Nuclear Senile Cataract

Senile Nuclear Cataract

Senile Nuclear Sclerosis

Myopathy, Myosin Storage, Autosomal Dominant

MSMA

Myopathy, Hyaline Body, Autosomal Dominant

Myopathy With Lysis Of Type I Myofibrils

Autosomal Dominant Hyaline Body Myopathy

Hyaline Body Myopathy Autosomal Dominant

Cataract 48

CTRCT48

Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Diabetic Cataract

Cataract - Diabetic

Cataract 18

Cataract, Autosomal Recessive Congenital 2

Catc2

CTRCT18

Autosomal Recessive Congenital Cataract 2

Cataract 18, Autosomal Recessive

Cataract 18 Autosomal Recessive

Cataract, Type 18

Immature Cataract

Incipient Cataract

Incipient Senile Cataract

Water Clefts

Senile Cataract
Eye Accommodation Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris CRYGB VGNC VGNC:39644
Felis catus CRYGB VGNC VGNC:82527
Bos taurus CRYGB VGNC VGNC:55341
Mus musculus CRYGB MGD MGI:88522
Macaca mulatta CRYGB VGNC VGNC:71507
Rattus norvegicus CRYGB RGD RGD:1584991