1. Gene
  2. CRYGD - crystallin gamma D Gene

CRYGD - crystallin gamma D Gene

Homo sapiens

Also known as CCP; PCC; CACA; CCA3; CRYG4; CTRCT4; cry-g-D

Gene ID: 1421 | Gene type: protein coding

About CRYGD

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:208,121,607-208,124,524 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 68 orthologues, 14 paralogues and is associated with 9 phenotypes. Biased expression in ovary (RPKM 6.8) and bone marrow (RPKM 0.8).

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]

CRYGD Products(1)

mRNA Protein Name
NM_006891.4 NP_008822.2 gamma-crystallin D

CRYGD Protein Structure

Crystall

Crystall: Beta/Gamma crystallin (3 - 82)

Crystall

Crystall: Beta/Gamma crystallin (89 - 170)

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

gamma-crystallin D

gamma crystallin 4

Related Diseases

Diseases Alias
Cataract 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant

Cataract 29

CTRCT29

Cataract 29, Coralliform

Cataract 29 Coralliform

Coralliform Cataract

Cataract 7

Cca1

CTRCT7

Cerulean Cataract

Cataract 7, Cerulean Type

Cataract, Congenital, Cerulean Type, 1

Cerulean Type Cataract 7

Congenital Cerulean Type Cataract 1

Cataract, Congenital, Blue Dot Type 1

Cataract, Congenital, Cerulean Type 1

Blue-Dot Cataract

Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent

Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome

Early-Onset Lamellar Cataract
Early-Onset Nuclear Cataract
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Nuclear Senile Cataract

Senile Nuclear Cataract

Senile Nuclear Sclerosis

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency

Carnitine Acylcarnitine Translocase Deficiency

CACTD

Carnitine-Acylcarnitine Carrier Deficiency

Senile Cataract
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome

Babesiosis

Babesiasis

Infection By Babesia

Piroplasmosis

Human Babesiosis

Babesia Parasite Infection

Piroplasma Infection

Leukocoria

Leucocoria

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

Amblyopia

Lazy Eye

Lens Disease

Lens Diseases

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

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
Rattus norvegicus CRYGD RGD RGD:2422
Mus musculus CRYGD MGD MGI:88524
Bos taurus CRYGD VGNC VGNC:55342