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CRYGD crystallin, gamma D [ Homo sapiens (human) ]

Gene ID: 1421, updated on 6-Jul-2014
Official Symbol
CRYGDprovided by HGNC
Official Full Name
crystallin, gamma Dprovided by HGNC
Primary source
HGNC:2411
See related
Ensembl:ENSG00000118231; HPRD:00436; MIM:123690; Vega:OTTHUMG00000132944
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCP; PCC; CACA; CCA3; CRYG4; CTRCT4; cry-g-D
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]
See CRYGD in Epigenomics, MapViewer
Location:
2q33.3
Exon count :
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (208121607..208124589, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (208986331..208989313, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 17 Neighboring gene crystallin, gamma E, pseudogene Neighboring gene uncharacterized LOC100507443 Neighboring gene replication factor C (activator 1) 2, 40kDa pseudogene Neighboring gene crystallin, gamma C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cataract 4
MedGen: C1861832 OMIM: 115700 GeneReviews: Not available
not available
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
structural constituent of eye lens NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to reactive oxygen species IDA
Inferred from Direct Assay
more info
PubMed 
lens development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
lens fiber cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
gamma-crystallin D
Names
gamma-crystallin D
gamma crystallin 4
gamma-D-crystallin
gamma-crystallin 4

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008039.1 

    Range
    5001..7983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006891.3NP_008822.2  gamma-crystallin D

    See proteins identical to NP_008822.2

    Status: REVIEWED

    Source sequence(s)
    BC117338, CD674533, EL946552, U66583
    Consensus CDS
    CCDS2378.1
    UniProtKB/Swiss-Prot
    P07320
    Related
    ENSP00000264376, OTTHUMP00000163871, ENST00000264376, OTTHUMT00000256476
    Conserved Domains (2) summary
    smart00247
    Location:382
    Blast Score: 307
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:89170
    Blast Score: 321
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    208121607..208124589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    200834785..200837767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    208992125..208995102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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