Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1409
Gene name	Crystallin alpha A
Gene symbol	CRYAA
Synonyms (NCBI Gene)	CRYA1CTRCT9HSPB4
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

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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 blottingqRT-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

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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

MIM	HGNC	e!Ensembl
123580	2388	ENSG00000160202

Interactions View interactions

KEGG Pathway
Protein processing in endoplasmic reticulum

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
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 View all (3 more)	★★★★★ ★★★★★ 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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (19)
ANDROGENETIC ALOPECIA	—	GWAS catalog	28196072, 30573740	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	21850155	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	9467006	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT - MICROCORNEA SYNDROME	—	GWAS catalog	21686328, 21612679, 17724170	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 9 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	9467006, 18302245, 11006246, 17296897	★★★★★ ★★☆☆☆ 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	17724170, 21612679, 21686328	★★★★★ ★★☆☆☆ 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	22065922, 22065922	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	23255486, 23255486	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	19390652, 19390652, 24074001, 24384146, 24074001, 24384146	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	16862070, 16862070	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	CTD, Disgenet CTD, Disgenet	19578012, 21850155	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CRYBB2	7	["Autoimmune disease","Cataract","Cataract-microcornea syndrome","Congenital cataract","Congenital total cataract","Nuclear cataract","Uveitis"]	[]	16	["Disgenet (Ankylosing spondylitis)","CTD (Autoimmune disease)","GWAS catalog (Cataract)","CTD (Cataract)","Orphanet (Cataract)","GWAS catalog (Cataract-microcornea syndrome)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Cataract-microcornea syndrome)","Disgenet (Congenital cataract)","Orphanet (Cataract-microcornea syndrome)","Disgenet (Congenital total cataract)"]
CRYGC	5	["Cataract","Cataract-microcornea syndrome","Congenital cataract","Lamellar cataract","Nuclear cataract"]	[]	13	["GWAS catalog (Cataract)","CTD (Cataract)","GWAS catalog (Cataract-microcornea syndrome)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Cataract-microcornea syndrome)","Disgenet (Congenital cataract)","CTD (Congenital cataract)","Orphanet (Cataract-microcornea syndrome)","GWAS catalog (Lamellar cataract)","Orphanet (Lamellar cataract)","GWAS catalog (Nuclear cataract)"]
CRYGB	5	["Cataract","Congenital cataract","Congenital total cataract","Anterior polar cataract","Lamellar cataract"]	[]	11	["GWAS catalog (Cataract)","CTD (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","Disgenet (Congenital total cataract)","GWAS catalog (Anterior polar cataract)","Orphanet (Anterior polar cataract)","GWAS catalog (Lamellar cataract)","Orphanet (Lamellar cataract)"]
FYCO1	4	["Cataract","Congenital cataract","Congenital total cataract","Nuclear cataract"]	[]	9	["GWAS catalog (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","CTD (Congenital cataract)","Disgenet (Congenital total cataract)","GWAS catalog (Nuclear cataract)","Orphanet (Nuclear cataract)"]
CRYBB1	4	["Cataract","Cataract-microcornea syndrome","Congenital cataract","Nuclear cataract"]	[]	11	["GWAS catalog (Cataract)","CTD (Cataract)","GWAS catalog (Cataract-microcornea syndrome)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Cataract-microcornea syndrome)","Disgenet (Congenital cataract)","CTD (Congenital cataract)","Orphanet (Cataract-microcornea syndrome)","GWAS catalog (Nuclear cataract)","Orphanet (Nuclear cataract)"]

CRYAA (crystallin alpha A)

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