Gene table of ITM2B : integral membrane protein 2B

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ITM2B	OMIM link	Number of associated genes	genes
176500	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	ClinVar, OMIM	link to OMIM	1	ITM2B
117300	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2	ClinVar, OMIM	link to OMIM	1	ITM2B
616079	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ITM2B

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
Amyloids	R-HSA-977225	7.37
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
beta-amyloid binding	GO:0001540	6.21
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
amide binding	GO:0033218	4.14
small molecule binding	GO:0036094	1.89
peptide binding	GO:0042277	4.22
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19