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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CRYGD
crystallin gamma D
Chromosome 2 Β· 2q33.3
NCBI Gene: 1421Ensembl: ENSG00000118231.5HGNC: HGNC:2411UniProt: A0A140CTX7
120PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingvisual perceptioncellular response to reactive oxygen speciesnucleusCataract-microcornea syndromeearly-onset non-syndromic cataractearly-onset nuclear cataractpulverulent cataract
✦AI Summary

CRYGD encodes gamma-D crystallin, a major structural protein constituent of the vertebrate eye lens 1. As a dominant lens component, CRYGD maintains lens transparency and is essential for normal visual perception and lens fiber cell differentiation [GO Annotations]. The protein consists of two structurally similar domains, and mutations disrupting domain architecture compromise lens protein solubility and function. CRYGD mutations cause congenital cataracts through multiple mechanisms: the R36P mutation reduces soluble protein levels without affecting insoluble fractions or triggering proteasomal degradation 2, while the recurrent P24T mutation causes bilateral, non-progressive coralliform cataracts in 83.3% of affected Chinese families 3. Other mutations including R58H, R77S, and nonsense variants (W157*, W131*, R140*) result in distinct cataract phenotypes ranging from anterior polar coronary to nuclear and lamellar presentations 456. Evolutionary analysis reveals that cataractogenic mutations sometimes revert to ancestral protein sequences, with compensatory changes in structurally reciprocal domains potentially modulating pathogenic effects 1. CRYGD ranks among the top three genes (alongside PAX6 and GJA8) implicated in nonsyndromic congenital cataract genetics, accounting for approximately 27% of identified variants 76. Intrafamilial clinical heterogeneity can occur with identical CRYGD mutations, suggesting additional modifying factors influence phenotypic expression 4.

Sources cited
1
CRYGD P23S mutation causes congenital cataract; ancestral serine residue at position 23 is cataractogenic; compensatory amino acid changes occur in structurally reciprocal domains; gene conversion occurs in gamma-crystallin gene cluster
PMID: 17564961
2
R58H mutation in CRYGD causes aculeiform cataract with intrafamilial clinical heterogeneity; same mutation identified in multiple unrelated families
PMID: 16030500
3
Recurrent P24T mutation in CRYGD identified in 83.3% of Chinese families with congenital coralliform cataracts; mutation acts as mutational hotspot
PMID: 37480084
4
R36P mutation in CRYGD significantly reduces soluble protein fraction without affecting insoluble protein or causing proteasomal degradation; represents novel mechanism of cataractogenesis
PMID: 39563676
5
Novel R77S mutation in CRYGD causes anterior polar coronary cataract; arginine residues frequently implicated in CRYGD mutations
PMID: 20508808
6
CRYGD mutations account for 27.37% of variants in congenital cataract cohort; among top three genes (PAX6, GJA8, CRYGD) covering 33.06% of molecular diagnoses
PMID: 37337769
7
Novel nonsense mutation Y56X in CRYGD causes nuclear cataract in Brazilian families; tyrosine at position 56 highly conserved in evolution
PMID: 19390652
8
Multiple truncating variants in CRYGD (W157*, W131*, R140*) cause congenital cataracts with nuclear and lamellar phenotypes
PMID: 33243271
Disease Associationsβ“˜21
Cataract-microcornea syndromeOpen Targets
0.70Strong
early-onset non-syndromic cataractOpen Targets
0.63Moderate
early-onset nuclear cataractOpen Targets
0.62Moderate
pulverulent cataractOpen Targets
0.62Moderate
early-onset zonular cataractOpen Targets
0.54Moderate
Aculeiform cataractOpen Targets
0.53Moderate
cataractOpen Targets
0.48Moderate
Autosomal dominant optic atrophy and cataractOpen Targets
0.47Moderate
autosomal dominant cataractOpen Targets
0.46Moderate
Developmental cataractOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
cataract - microcornea syndromeOpen Targets
0.39Weak
coralliform cataractOpen Targets
0.37Weak
cerulean cataractOpen Targets
0.37Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.12Weak
Partial congenital cataractOpen Targets
0.12Weak
rheumatoid arthritisOpen Targets
0.12Weak
cataract 35Open Targets
0.12Weak
Total congenital cataractOpen Targets
0.12Weak
Posterior polar cataractOpen Targets
0.12Weak
Cataract 4, multiple typesUniProt
Pathogenic Variants17
NM_006891.4(CRYGD):c.471G>A (p.Trp157Ter)Pathogenic
Aculeiform cataract|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 157
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)Pathogenic
Cataract 4 multiple types|Developmental cataract|Aculeiform cataract|not provided|CRYGD-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 24
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)Pathogenic
Cataract 4 multiple types|Aculeiform cataract|Inborn genetic diseases|CRYGD-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 140
NM_006891.4(CRYGD):c.475del (p.Ala159fs)Pathogenic
Aculeiform cataract|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 159
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)Pathogenic
Cataract 4 multiple types|Aculeiform cataract|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 15
NM_006891.4(CRYGD):c.176G>A (p.Arg59His)Pathogenic
Cataract 4 multiple types|Aculeiform cataract|CRYGD-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 59
NM_006891.4(CRYGD):c.392G>A (p.Trp131Ter)Likely pathogenic
Cataract 4 multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 131
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser)Pathogenic
Cataract 4 multiple types|Aculeiform cataract
β˜…β˜†β˜†β˜†2024β†’ Residue 37
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter)Likely pathogenic
Cataract 4 multiple types|Aculeiform cataract
β˜…β˜†β˜†β˜†2024β†’ Residue 134
NM_006891.4(CRYGD):c.161_163del (p.Leu54del)Likely pathogenic
Aculeiform cataract
β˜…β˜†β˜†β˜†2023β†’ Residue 54
NM_006891.4(CRYGD):c.110G>C (p.Arg37Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 37
NM_006891.4(CRYGD):c.154T>C (p.Ser52Pro)Likely pathogenic
Aculeiform cataract
β˜…β˜†β˜†β˜†2022β†’ Residue 52
NM_006891.4(CRYGD):c.51T>G (p.Tyr17Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 17
NM_006891.4(CRYGD):c.448dup (p.Asp150fs)Likely pathogenic
Developmental cataract|Cataract 4 multiple types
β˜…β˜†β˜†β˜†β†’ Residue 150
NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro)Likely pathogenic
not provided|CRYGD-related disorder
β˜…β˜†β˜†β˜†β†’ Residue 45
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter)Pathogenic
Cataract 4 multiple types
β˜†β˜†β˜†β˜†2007β†’ Residue 157
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser)Pathogenic
Cataract 4 multiple types
β˜†β˜†β˜†β˜†2007β†’ Residue 24
View on ClinVar β†—
Related Genes
TMEM114Protein interaction94%CRYABProtein interaction92%GJA8Protein interaction86%PITX3Protein interaction85%TRNT1Protein interaction83%GJA3Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
65%
Brain
4%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CRYGDTMEM114CRYABGJA8PITX3TRNT1GJA3
PROTEIN STRUCTURE
Preparing viewer…
PDB1H4A Β· 1.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.19 [0.77–1.80]
RankingsWhere CRYGD stands among ~20K protein-coding genes
  • #3,913of 20,598
    Most Researched120 Β· top quartile
  • #2,331of 5,498
    Most Pathogenic Variants17
  • #16,545of 17,882
    Most Constrained (LOEUF)1.80
Genes detectedCRYGD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
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.
PMID: 17564961
Am J Hum Genet Β· 2007
1.00
2
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
PMID: 16030500
Mol Vis Β· 2005
0.90
3
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.
PMID: 37480084
Orphanet J Rare Dis Β· 2023
0.80
4
A potential novel role of the R36P mutation in CRYGD in congenial cataract.
PMID: 39563676
Mol Vis Β· 2024
0.70
5
A novel human CRYGD mutation in a juvenile autosomal dominant cataract.
PMID: 20508808
Mol Vis Β· 2010
0.60