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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1411
Gene name Gene Name - the full gene name approved by the HGNC.	Crystallin beta A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CRYBA1
Synonyms (NCBI Gene) Gene synonyms aliases	CRYB1, CTRCT10
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CTRCT10
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs775038545	G>A,C,T	Likely-pathogenic	Splice donor variant
rs786205628	AGAG>-,AG	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797219	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1264025914	G>A,T	Pathogenic	Splice donor variant
rs1555547008	GTGGGTATC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567671947	CA>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018067	hsa-miR-335-5p	Microarray	18185580
MIRT1970193	hsa-miR-214	CLIP-seq
MIRT1970194	hsa-miR-3143	CLIP-seq
MIRT1970195	hsa-miR-3619-5p	CLIP-seq
MIRT1970196	hsa-miR-4291	CLIP-seq
MIRT1970197	hsa-miR-488	CLIP-seq
MIRT1970198	hsa-miR-543	CLIP-seq
MIRT1970199	hsa-miR-646	CLIP-seq
MIRT1970200	hsa-miR-761	CLIP-seq
MIRT1970201	hsa-miR-922	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0002088	Process	Lens development in camera-type eye	IBA	21873635
GO:0003674	Function	Molecular_function	ND
GO:0005212	Function	Structural constituent of eye lens	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17046756, 21516116, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0007601	Process	Visual perception	IBA	21873635
GO:0007601	Process	Visual perception	IMP	18587492
GO:0007601	Process	Visual perception	NAS	8999933
GO:0014067	Process	Negative regulation of phosphatidylinositol 3-kinase signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0051898	Process	Negative regulation of protein kinase B signaling	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:2000210	Process	Positive regulation of anoikis	IEA

MIM	HGNC	e!Ensembl
123610	2394	ENSG00000108255

Protein

UniProt ID

P05813

Protein name

Beta-crystallin A3 [Cleaved into: Beta-crystallin A3, isoform A1, Delta4 form; Beta-crystallin A3, isoform A1, Delta7 form; Beta-crystallin A3, isoform A1, Delta8 form]

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00030	Crystall	32 → 116	Beta/Gamma crystallin	Domain
PF00030	Crystall	125 → 213	Beta/Gamma crystallin	Domain

Sequence

METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSF
DNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAYHIERLMSFRPICSAN
HKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQ
YILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ

Sequence length

215

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Nuclear cataract, Nuclear non-senile cataract, Cataract, Central Saccular, With Sutural Opacities, Early-onset lamellar cataract, Early-onset sutural cataract, Early-onset nuclear cataract, Early-onset posterior polar cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)	24384146, 21686330, 9788845

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Mental depression	Major Depressive Disorder	29700475	ClinVar
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
Cataract	Associate	14693780, 18587492, 20142846, 21139983, 21850182, 22665976, 22919269, 24319337, 29914532, 31488069, 37165913, 38216115, 9788845
Cataract Autosomal Dominant	Associate	28120589
Cataract Autosomal Dominant Nuclear	Associate	21139983, 22665976, 33243271
Cataract congenital dominant non nuclear	Associate	22919269
Cataract Congenital Zonular with Sutural Opacities	Associate	9788845
Cataract Nuclear Progressive	Associate	21686330, 22665976
Chromosome Aberrations	Associate	21686330
Esotropia	Associate	31488069
Leukemia Promyelocytic Acute	Associate	2491776
Male sterility due to Y chromosome deletions	Associate	21850182
Nystagmus Pathologic	Associate	31488069
X Linked Infantile Nystagmus	Associate	28378818

CRYBA1 (crystallin beta A1)