CRYGC (crystallin gamma C)

Gene

• Entrez ID: 1420
• Gene name: Crystallin gamma C
• Gene symbol: CRYGC
• Synonyms (NCBI Gene): CCL, CRYG3, CTRCT2
• Chromosome: 2
• Chromosome location: 2q33.3
• Summary: This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present i

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016711	hsa-miR-335-5p	Microarray	18185580
MIRT028758	hsa-miR-26b-5p	Microarray	19088304

Transcription factors

Transcription factor	Regulation	Reference
HSF4	Unknown	19250318

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA
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	11700327, 12601044, 16303126, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	16303126
GO:0005737	Component	Cytoplasm	IDA	16303126
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	12011157, 18618005

Other IDs

• MIM: 123680
• HGNC: 2410
• e!Ensembl: ENSG00000163254

Protein

• UniProt ID: P07315
• Protein name: Gamma-crystallin C (Gamma-C-crystallin) (Gamma-crystallin 2-1) (Gamma-crystallin 3)
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• PDB: 2NBR
• 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:

  MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRR
  GEYPDYQQWMGLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSE
  IRSLHVLEGCWVLYELPNYRGRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY

• Sequence length: 174

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cataract 2, Coppock-like	Pathogenic	rs104893618	RCV000018452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 2, multiple types	Pathogenic; Likely pathogenic	rs1553585262, rs2105857937, rs1695062782, rs2468835222, rs398122392, rs398122944, rs137853924, rs587778872	RCV001336530 RCV002274222 RCV000018453 RCV004577318 RCV000056309 RCV000056310 RCV000056311 RCV000059346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRYGC-related disorder	Likely pathogenic	rs1559320516	RCV003983314	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic	rs864309689, rs587778872	RCV000203369 RCV000203402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nuclear pulverulent cataract	Likely pathogenic; Pathogenic	rs2105857887, rs2468835044, rs104893618, rs1553585262	RCV001976189 RCV002898768 RCV003593862 RCV000641653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT - MICROCORNEA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 2, MULTIPLE TYPE S	—	ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT MICROCORNEA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-MICROCORNEA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome type 2C	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma Hereditary	Adrenocortical carcinoma	Pubtator	28298635	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28091585		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24560857		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30922470		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10521291, 16303126, 19204787, 21423869, 22052681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	10521291, 11904153, 18587492, 18618005, 18926820, 19204787, 19262743, 19390652, 22876111, 23441109, 26732753, 28298635, 29386872, 29914532, 31523120, 33243271, 38068917	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	10914683, 11773036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	LHGDN	18618005, 19204787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 2, MULTIPLE TYPES	Cataract	UNIPROT_DG	10521291, 10914683, 12011157, 12601044, 18587492, 22052681, 22876111		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 2, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	10914683, 24281366		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 2, MULTIPLE TYPES	Cataract	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract Autosomal Dominant	Congenital cataract	Pubtator	11904153, 19204787	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract	ORPHANET_DG	19204787, 22876111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	19204787, 22876111, 28298635	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract Nuclear Progressive	Congenital cataract	Pubtator	19204787, 26732753, 28298635	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	GENOMICS_ENGLAND_DG	10914683		★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	23954869		★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	10521291, 18926820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	ORPHANET_DG	10914683, 23954869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	CLINVAR_DG	19204787, 28298635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	ORPHANET_DG	10914683, 23954869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	BEFREE	23954869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract-microcornea syndrome	Cataract-microcornea syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic heart failure	Heart Failure	BEFREE	28091585		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28282218		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21327296		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30880757, 31390540		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21612405		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	11904153, 17679936, 19204787, 23954869, 26165230, 28298635		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28091585, 28253222, 30922470		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset lamellar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	BEFREE	18618005, 22052681, 26165230		★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	29327730		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	24281366	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28253222, 30922470		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31206171		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18602166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30694605		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26242263, 31599113		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30880757, 31390540		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	19204787		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18602166		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21612405, 21617858		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14555535		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	18618005, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	18618005, 24384146		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	28847849		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30694605		★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	10914683, 11773036		★☆☆☆☆ Found in Text Mining only
Pulverulent cataract	Pulverulent Cataract	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28875388		★☆☆☆☆ Found in Text Mining only