Gene table of CRYAB : crystallin alpha B

Gene-disease associations table

Disease IDDisease nameSource of annotation with CRYABOMIM linkNumber of associated genesgenes
PS115200DILATED CARDIOMYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 36MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
PS601419MYOFIBRILLAR MYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 7CRYAB, FLNC, DES, MYOT, LDB3, DNAJB6, BAG3
PS116200CATARACTClinVar, OMIM link to OMIM 33GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS

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Annotation of the gene CRYAB

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein processing in endoplasmic reticulumhsa041415.35
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
tubulin bindingGO:00156314.1
metal ion bindingGO:00468721.41
cytoskeletal protein bindingGO:00080923.02
microtubule bindingGO:00080174.42
structural constituent of eye lensGO:00052126.74
ion bindingGO:00431671.36
unfolded protein bindingGO:00510825.13
bindingGO:00054880.18
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
structural molecule activityGO:00051983.1
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16