Gene table of IMPG2 : interphotoreceptor matrix proteoglycan 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with IMPG2	OMIM link	Number of associated genes	genes
PS153840	MACULAR DYSTROPHY, VITELLIFORM	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	PRPH2, IMPG1, IMPG2, BEST1
PS268000	RETINITIS PIGMENTOSA	ClinVar, OMIM	link to OMIM	69	PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sulfur compound binding	GO:1901681	4.32
extracellular matrix structural constituent	GO:0005201	5.37
carbohydrate derivative binding	GO:0097367	2.03
structural molecule activity	GO:0005198	3.1
glycosaminoglycan binding	GO:0005539	4.42
hyaluronic acid binding	GO:0005540	6.6
binding	GO:0005488	0.18
heparin binding	GO:0008201	4.68