CRYGB - crystallin gamma B Gene

Also Known as CRYG2; CTRCT39

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1419

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
Molecular Function GO Annotation Evidence References 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
Others CRYGB NCBI