Gene table of MIP : major intrinsic protein of lens fiber

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MIP	OMIM link	Number of associated genes	genes
PS116200	CATARACT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	GCNT2, 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

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Passive transport by Aquaporins	R-HSA-432047	9.4
Aquaporin-mediated transport	R-HSA-445717	7.31
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
carbohydrate transporter activity	GO:1901476	5.95
organic hydroxy compound transmembrane transporter activity	GO:1901618	6.02
structural molecule activity	GO:0005198	3.1
water channel activity	GO:0015250	7.03
glycerol channel activity	GO:0015254	7.17
passive transmembrane transporter activity	GO:0022803	3.6
glycerol transmembrane transporter activity	GO:0015168	7.17
water transmembrane transporter activity	GO:0005372	6.97
polyol transmembrane transporter activity	GO:0015166	6.97
transporter activity	GO:0005215	2.57
structural constituent of eye lens	GO:0005212	6.74
wide pore channel activity	GO:0022829	6.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
carbohydrate transmembrane transporter activity	GO:0015144	5.95
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
calmodulin binding	GO:0005516	4.55
protein binding	GO:0005515	0.46
substrate-specific channel activity	GO:0022838	3.67
gap junction channel activity	GO:0005243	7.1
alcohol transmembrane transporter activity	GO:0015665	6.97