CRYAA (crystallin alpha A)

Gene

• Entrez ID: 1409
• Gene name: Crystallin alpha A
• Gene symbol: CRYAA
• Synonyms (NCBI Gene): CRYA1, CTRCT9, HSPB4
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025225	hsa-miR-34a-5p	Proteomics	21566225
MIRT025225	hsa-miR-34a-5p	Proteomics	21566225
MIRT025225	hsa-miR-34a-5p	Proteomics	21566225
MIRT030179	hsa-miR-26b-5p	Microarray	19088304
MIRT732894	hsa-miR-551b-3p	Western blotting, qRT-PCR	32835529
MIRT911153	hsa-miR-1304	CLIP-seq
MIRT911154	hsa-miR-1915	CLIP-seq
MIRT911155	hsa-miR-214	CLIP-seq
MIRT911156	hsa-miR-219-1-3p	CLIP-seq
MIRT911157	hsa-miR-3197	CLIP-seq
MIRT911158	hsa-miR-3619-5p	CLIP-seq
MIRT911159	hsa-miR-4291	CLIP-seq
MIRT911160	hsa-miR-4755-3p	CLIP-seq
MIRT911161	hsa-miR-566	CLIP-seq
MIRT911162	hsa-miR-761	CLIP-seq
MIRT911163	hsa-miR-922	CLIP-seq
MIRT911164	hsa-miR-939	CLIP-seq
MIRT2206128	hsa-miR-1205	CLIP-seq
MIRT2206129	hsa-miR-1909	CLIP-seq
MIRT911164	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0005198	Function	Structural molecule activity	IDA	16303126
GO:0005198	Function	Structural molecule activity	IEA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	11700327, 12235146, 12601044, 14752512, 19651604, 22085609, 22153508, 23188086, 25416956, 25910212, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19464326
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14752512, 19464326, 19503744, 26004348, 29259299, 30340470
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007021	Process	Tubulin complex assembly	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	9467006, 14512969
GO:0009408	Process	Response to heat	IBA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0032387	Process	Negative regulation of intracellular transport	IDA	14752512
GO:0032991	Component	Protein-containing complex	IDA	16303126
GO:0042026	Process	Protein refolding	IBA
GO:0042026	Process	Protein refolding	ISS
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042802	Function	Identical protein binding	IPI	12601044, 16303126, 19651604, 22085609, 25416956, 32296183
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	14752512
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	14512969
GO:0046872	Function	Metal ion binding	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0050821	Process	Protein stabilization	IMP	12235146
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051082	Function	Unfolded protein binding	IMP	18407550
GO:0051082	Function	Unfolded protein binding	IPI	8943244
GO:0060561	Process	Apoptotic process involved in morphogenesis	IEA
GO:0070141	Process	Response to UV-A	IEA
GO:0070309	Process	Lens fiber cell morphogenesis	IEA

Other IDs

• MIM: 123580
• HGNC: 2388
• e!Ensembl: ENSG00000160202

Interactions View interactions

Pathways

KEGG:

Protein processing in endoplasmic reticulum

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
Abnormality of the eye	Likely pathogenic; Pathogenic	rs397515624	RCV001814044	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 9 multiple types	Pathogenic; Likely pathogenic	rs74315439, rs74315441, rs121912973, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626	RCV000018469 RCV000018472 RCV000059327 RCV000059325 RCV000059326 RCV000810953 RCV000995748 RCV000059330	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract 9, autosomal recessive	Likely pathogenic	rs74315440	RCV000018471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 9, multiple types, with microcornea	Pathogenic; Likely pathogenic	rs121912973, rs397515624, rs397515625	RCV000018473 RCV000059328 RCV000059329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRYAA-related disorder	Pathogenic; Likely pathogenic	rs121912973, rs397515625	RCV004730849 RCV004757125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Likely pathogenic; Pathogenic	rs864309685, rs397515623, rs397515624, rs397515625	RCV000203376 RCV000490766 RCV001775004 RCV000203310	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ 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 9 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 9, MULTIPLE TYPE S	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT MICROCORNEA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, 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
CONGENITAL TOTAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ANTERIOR POLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ 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
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations