Details for: CRYGD

Gene ID: 1421

Symbol: CRYGD

Ensembl ID: ENSG00000118231

Description: crystallin gamma D

Associated with

Other Information

Genular Protein ID: 848408585

Symbol: CRGD_HUMAN

Name: Gamma-crystallin D

UniProtKB Accession Codes:

P07320 Q17RF7 Q53R51 Q99681

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PCDDB 1 PDB 14 PDBsum 12 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 4033658

Title: Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.

PubMed ID: 4033658

DOI: 10.1128/mcb.5.6.1408-1414.1985

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8999933

Title: Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.

PubMed ID: 8999933

DOI: 10.1074/jbc.272.4.2268

PubMed ID: 15709761

Title: Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.

PubMed ID: 15709761

DOI: 10.1021/bi0479611

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 12729747

Title: High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.

PubMed ID: 12729747

DOI: 10.1016/s0022-2836(03)00375-9

PubMed ID: 12507494

Title: Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.

PubMed ID: 12507494

DOI: 10.1016/s0006-291x(02)02895-4

PubMed ID: 10521291

Title: The gamma-crystallins and human cataracts: a puzzle made clearer.

PubMed ID: 10521291

DOI: 10.1086/302619

PubMed ID: 9927684

Title: Progressive juvenile-onset punctate cataracts caused by mutation of the gamma-D-crystallin gene.

PubMed ID: 9927684

DOI: 10.1073/pnas.96.3.1008

PubMed ID: 10915766

Title: Link between a novel human gamma-D-crystallin allele and a unique cataract phenotype explained by protein crystallography.

PubMed ID: 10915766

DOI: 10.1093/hmg/9.12.1779

PubMed ID: 10688888

Title: Molecular basis of a progressive juvenile-onset hereditary cataract.

PubMed ID: 10688888

DOI: 10.1073/pnas.040554397

PubMed ID: 11371638

Title: Crystal cataracts: human genetic cataract caused by protein crystallization.

PubMed ID: 11371638

DOI: 10.1073/pnas.101124798

PubMed ID: 12011157

Title: Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.

PubMed ID: 12011157

DOI: 10.1136/jmg.39.5.352

PubMed ID: 12676897

Title: Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

PubMed ID: 12676897

DOI: 10.1136/jmg.40.4.262

PubMed ID: 16943771

Title: Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.

PubMed ID: 16943771

PubMed ID: 17564961

Title: Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.

PubMed ID: 17564961

DOI: 10.1086/518616

PubMed ID: 18587492

Title: Crystallin gene mutations in Indian families with inherited pediatric cataract.

PubMed ID: 18587492

PubMed ID: 19390652

Title: Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.

PubMed ID: 19390652

PubMed ID: 21031598

Title: A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.

PubMed ID: 21031598

DOI: 10.1002/humu.21386

PubMed ID: 21866213

Title: Mutation analysis of 12 genes in Chinese families with congenital cataracts.

PubMed ID: 21866213

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

PubMed ID: 31523120

Title: Mutation screening of crystallin genes in Chinese families with congenital cataracts.

PubMed ID: 31523120

PubMed ID: 33243271

Title: The genetic landscape of crystallins in congenital cataract.

PubMed ID: 33243271

DOI: 10.1186/s13023-020-01613-3

Sequence Information:

  • Length: 174
  • Mass: 20738
  • Checksum: 437EC83FD79F12E4
  • Sequence:
    • MGKITLYEDR GFQGRHYECS SDHPNLQPYL SRCNSARVDS GCWMLYEQPN YSGLQYFLRR 
GDYADHQQWM GLSDSVRSCR LIPHSGSHRI RLYEREDYRG QMIEFTEDCS CLQDRFRFNE 
IHSLNVLEGS WVLYELSNYR GRQYLLMPGD YRRYQDWGAT NARVGSLRRV IDFS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.