Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1421
Gene name	Crystallin gamma D
Gene symbol	CRYGD
Synonyms (NCBI Gene)	CACACCA3CCPCRYG4CTRCT4PCCcry-g-D
Chromosome	2
Chromosome location	2q33.3
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 l

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2678681	hsa-miR-3653	CLIP-seq
MIRT2678682	hsa-miR-3658	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0002088	Process	Lens development in camera-type eye	ISS
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005212	Function	Structural constituent of eye lens	NAS	12507494
GO:0005515	Function	Protein binding	IPI	8943244, 22289178
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	9927684, 12011157, 12676897
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	8943244
GO:0070306	Process	Lens fiber cell differentiation	ISS

MIM	HGNC	e!Ensembl
123690	2411	ENSG00000118231

P07320

Protein name

Gamma-crystallin D (Gamma-D-crystallin) (Gamma-crystallin 4)

Protein function

Crystallins are the dominant structural components of the vertebrate eye lens.

PDB

1H4A , 1HK0 , 2G98 , 2KFB , 2KLJ , 4GR7 , 4JGF , 6ETA , 6ETC , 6W5B , 6WCY , 7P53 , 8BD0 , 8BPI , 8Q3L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00030	Crystall	3 → 82	Beta/Gamma crystallin	Domain
PF00030	Crystall	89 → 170	Beta/Gamma crystallin	Domain

Sequence

MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRR
GDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNE
IHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS

Sequence length

174

Interactions

View interactions

111

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aculeiform cataract	Likely pathogenic; Pathogenic	rs2105851392, rs2469111254, rs2469111242, rs121909595, rs121909596, rs121909597, rs28931605, rs1337897299, rs764945940, rs398122948	RCV002020658 RCV002819120 RCV003594613 RCV000803517 RCV002228036 RCV005089270 RCV001061709 RCV002233615 RCV000696202 RCV003593865
Cataract 4 multiple types	Likely pathogenic; Pathogenic	rs864309701, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs1337897299, rs398122948	RCV004796097 RCV000018445 RCV000018446 RCV000018447 RCV000018448 RCV000018450 RCV000018451 RCV000695895 RCV000059331
CRYGD-related disorder	Likely pathogenic; Pathogenic	rs786205546, rs121909596, rs28931605, rs1337897299	RCV004730893 RCV003894812 RCV004730848 RCV004731011
Developmental cataract	Likely pathogenic; Pathogenic	rs864309701, rs28931605	RCV000203375 RCV000203330

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cataract	Uncertain significance; Likely benign	rs886055528, rs575552206	RCV000365936 RCV000311085
Gastric cancer	Benign	rs189582567	RCV005896074
High myopia	Conflicting classifications of pathogenicity	rs150857132	RCV000785701
Joubert syndrome 17	Conflicting classifications of pathogenicity	rs202233735	RCV001258237

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cataract	Associate	10521291, 11371638, 12592018, 12676897, 14693780, 15041957, 15064679, 15273315, 16030500, 16046626, 16446699, 18334953, 18587492, 18618005, 19204787 View all (36 more)
Cataract Age Related Nuclear	Associate	23124202
Cataract Autosomal Dominant	Associate	15064679, 16288201, 19204787, 19262743, 20508808
Cataract Autosomal Dominant Nuclear	Associate	16288201, 16446699, 16943771, 18618005, 19204787, 19390652, 21031598, 26147294, 33243271
Cataract Crystalline Coralliform	Associate	16446699, 18334953, 19633732, 19668596, 21552497, 24103489, 26732753, 37480084
Cataract microcornea syndrome	Associate	19204787
Cataract Nuclear Progressive	Associate	16288201, 16943771, 19204787, 21197114, 21527994, 24465161, 26147294, 26732753
Cerulean cataract	Associate	12676897, 19633732, 21850180
Chromosome Aberrations	Associate	18618005
COVID 19	Associate	37246981
Genetic Diseases Inborn	Associate	15064679
Lymphedema	Associate	19668596, 21866214
Neoplasms	Associate	25787081
Neoplastic Syndromes Hereditary	Associate	16030500
Osteoporosis	Associate	27417136
Propionic Acidemia	Inhibit	6614005
Retinitis Pigmentosa	Associate	35410372
Shock	Associate	27483394
Tooth Discoloration	Associate	19633732
Urinary Bladder Neoplasms	Associate	21483740

CRYGD (crystallin gamma D)