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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9445
Gene name	Integral membrane protein 2B
Gene symbol	ITM2B
Synonyms (NCBI Gene)	ABRIBRIBRI2BRICD2BE25BE3-16FBDRDGCAimBRI2
Chromosome	13
Chromosome location	13q14.2
Summary	Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by f

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894417	T>A	Pathogenic	Stop lost, terminator codon variant
rs606231166	->TTAATTTGTT	Pathogenic	Frameshift variant, coding sequence variant
rs606231283	A>C	Pathogenic	Missense variant, coding sequence variant

308

Show/Hide all (308)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028344	hsa-miR-32-5p	Sequencing	20371350
MIRT052500	hsa-let-7a-5p	CLASH	23622248
MIRT050305	hsa-miR-25-3p	CLASH	23622248
MIRT048657	hsa-miR-99a-5p	CLASH	23622248
MIRT048501	hsa-miR-100-5p	CLASH	23622248
MIRT044908	hsa-miR-186-5p	CLASH	23622248
MIRT044501	hsa-miR-320a	CLASH	23622248
MIRT036241	hsa-miR-320b	CLASH	23622248
MIRT340482	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT340482	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT340484	hsa-miR-670-3p	PAR-CLIP	22100165
MIRT735556	hsa-miR-143-3p	Luciferase reporter assayWestern blottingRNA-seqqRT-PCRFlow cytometry	33061450
MIRT340482	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT340482	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT340484	hsa-miR-670-3p	PAR-CLIP	22100165
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT1074516	hsa-miR-18a	CLIP-seq
MIRT1074517	hsa-miR-18b	CLIP-seq
MIRT1074518	hsa-miR-2054	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT1074520	hsa-miR-25	CLIP-seq
MIRT1074521	hsa-miR-3115	CLIP-seq
MIRT1074522	hsa-miR-3145-3p	CLIP-seq
MIRT1074523	hsa-miR-3170	CLIP-seq
MIRT1074524	hsa-miR-32	CLIP-seq
MIRT1074525	hsa-miR-34b	CLIP-seq
MIRT1074526	hsa-miR-363	CLIP-seq
MIRT1074527	hsa-miR-367	CLIP-seq
MIRT1074528	hsa-miR-3685	CLIP-seq
MIRT1074529	hsa-miR-3689a-5p	CLIP-seq
MIRT1074530	hsa-miR-3689b	CLIP-seq
MIRT1074531	hsa-miR-3689e	CLIP-seq
MIRT1074532	hsa-miR-3689f	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT1074534	hsa-miR-4495	CLIP-seq
MIRT1074535	hsa-miR-4698	CLIP-seq
MIRT1074536	hsa-miR-4728-3p	CLIP-seq
MIRT1074537	hsa-miR-4735-3p	CLIP-seq
MIRT1074538	hsa-miR-586	CLIP-seq
MIRT1074539	hsa-miR-92a	CLIP-seq
MIRT1074540	hsa-miR-92b	CLIP-seq
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT1550339	hsa-miR-3120-3p	CLIP-seq
MIRT1550340	hsa-miR-3135	CLIP-seq
MIRT1550341	hsa-miR-4263	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT1550342	hsa-miR-4684-5p	CLIP-seq
MIRT1550343	hsa-miR-4795-3p	CLIP-seq
MIRT1550344	hsa-miR-4799-5p	CLIP-seq
MIRT1550345	hsa-miR-556-3p	CLIP-seq
MIRT1550346	hsa-miR-576-5p	CLIP-seq
MIRT1550347	hsa-miR-656	CLIP-seq
MIRT1550348	hsa-miR-922	CLIP-seq
MIRT2018411	hsa-miR-3121-3p	CLIP-seq
MIRT1550340	hsa-miR-3135	CLIP-seq
MIRT2018412	hsa-miR-448	CLIP-seq
MIRT1550342	hsa-miR-4684-5p	CLIP-seq
MIRT1550343	hsa-miR-4795-3p	CLIP-seq
MIRT1550344	hsa-miR-4799-5p	CLIP-seq
MIRT2018413	hsa-miR-4803	CLIP-seq
MIRT2018414	hsa-miR-548m	CLIP-seq
MIRT1074538	hsa-miR-586	CLIP-seq
MIRT1550347	hsa-miR-656	CLIP-seq
MIRT2250282	hsa-miR-105	CLIP-seq
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT2250283	hsa-miR-1304	CLIP-seq
MIRT1074516	hsa-miR-18a	CLIP-seq
MIRT1074517	hsa-miR-18b	CLIP-seq
MIRT2250284	hsa-miR-196a	CLIP-seq
MIRT2250285	hsa-miR-196b	CLIP-seq
MIRT2250286	hsa-miR-200b	CLIP-seq
MIRT2250287	hsa-miR-200c	CLIP-seq
MIRT1074518	hsa-miR-2054	CLIP-seq
MIRT2250288	hsa-miR-217	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT2250289	hsa-miR-2467-5p	CLIP-seq
MIRT1074520	hsa-miR-25	CLIP-seq
MIRT1074521	hsa-miR-3115	CLIP-seq
MIRT2250290	hsa-miR-3117-5p	CLIP-seq
MIRT1550339	hsa-miR-3120-3p	CLIP-seq
MIRT1550340	hsa-miR-3135	CLIP-seq
MIRT1074522	hsa-miR-3145-3p	CLIP-seq
MIRT2250291	hsa-miR-3148	CLIP-seq
MIRT2250292	hsa-miR-3188	CLIP-seq
MIRT1074524	hsa-miR-32	CLIP-seq
MIRT1074526	hsa-miR-363	CLIP-seq
MIRT2250293	hsa-miR-3647-3p	CLIP-seq
MIRT1074527	hsa-miR-367	CLIP-seq
MIRT1074528	hsa-miR-3685	CLIP-seq
MIRT1074529	hsa-miR-3689a-5p	CLIP-seq
MIRT1074530	hsa-miR-3689b	CLIP-seq
MIRT1074531	hsa-miR-3689e	CLIP-seq
MIRT1074532	hsa-miR-3689f	CLIP-seq
MIRT2250294	hsa-miR-3927	CLIP-seq
MIRT2250295	hsa-miR-3975	CLIP-seq
MIRT2250296	hsa-miR-429	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT2250297	hsa-miR-4418	CLIP-seq
MIRT2018412	hsa-miR-448	CLIP-seq
MIRT2250298	hsa-miR-4668-5p	CLIP-seq
MIRT2250299	hsa-miR-4681	CLIP-seq
MIRT2250300	hsa-miR-4690-5p	CLIP-seq
MIRT1074537	hsa-miR-4735-3p	CLIP-seq
MIRT1550343	hsa-miR-4795-3p	CLIP-seq
MIRT1550344	hsa-miR-4799-5p	CLIP-seq
MIRT2250301	hsa-miR-485-3p	CLIP-seq
MIRT2250302	hsa-miR-485-5p	CLIP-seq
MIRT2250303	hsa-miR-495	CLIP-seq
MIRT2250304	hsa-miR-509-3-5p	CLIP-seq
MIRT2250305	hsa-miR-509-5p	CLIP-seq
MIRT1550345	hsa-miR-556-3p	CLIP-seq
MIRT2250306	hsa-miR-582-5p	CLIP-seq
MIRT1074538	hsa-miR-586	CLIP-seq
MIRT2250307	hsa-miR-617	CLIP-seq
MIRT1550347	hsa-miR-656	CLIP-seq
MIRT2250308	hsa-miR-659	CLIP-seq
MIRT2250309	hsa-miR-9	CLIP-seq
MIRT1550348	hsa-miR-922	CLIP-seq
MIRT1074539	hsa-miR-92a	CLIP-seq
MIRT1074540	hsa-miR-92b	CLIP-seq
MIRT2250310	hsa-miR-935	CLIP-seq
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT2430156	hsa-miR-1251	CLIP-seq
MIRT2430157	hsa-miR-1273f	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT2430158	hsa-miR-143	CLIP-seq
MIRT2430159	hsa-miR-146b-3p	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT1074520	hsa-miR-25	CLIP-seq
MIRT2430160	hsa-miR-300	CLIP-seq
MIRT1074521	hsa-miR-3115	CLIP-seq
MIRT1550339	hsa-miR-3120-3p	CLIP-seq
MIRT1550340	hsa-miR-3135	CLIP-seq
MIRT1074524	hsa-miR-32	CLIP-seq
MIRT1074525	hsa-miR-34b	CLIP-seq
MIRT1074526	hsa-miR-363	CLIP-seq
MIRT1074527	hsa-miR-367	CLIP-seq
MIRT2430161	hsa-miR-381	CLIP-seq
MIRT1550341	hsa-miR-4263	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT2430162	hsa-miR-4452	CLIP-seq
MIRT2430163	hsa-miR-4477b	CLIP-seq
MIRT2018412	hsa-miR-448	CLIP-seq
MIRT2430164	hsa-miR-4662a-3p	CLIP-seq
MIRT2430165	hsa-miR-4666-3p	CLIP-seq
MIRT2430166	hsa-miR-4666-5p	CLIP-seq
MIRT1550342	hsa-miR-4684-5p	CLIP-seq
MIRT2430167	hsa-miR-4708-5p	CLIP-seq
MIRT2430168	hsa-miR-4731-3p	CLIP-seq
MIRT2430169	hsa-miR-4770	CLIP-seq
MIRT2430170	hsa-miR-4777-5p	CLIP-seq
MIRT2430171	hsa-miR-4789-5p	CLIP-seq
MIRT1550343	hsa-miR-4795-3p	CLIP-seq
MIRT1550344	hsa-miR-4799-5p	CLIP-seq
MIRT2430172	hsa-miR-4801	CLIP-seq
MIRT2018413	hsa-miR-4803	CLIP-seq
MIRT2430173	hsa-miR-548ag	CLIP-seq
MIRT2430174	hsa-miR-548ai	CLIP-seq
MIRT2018414	hsa-miR-548m	CLIP-seq
MIRT1550345	hsa-miR-556-3p	CLIP-seq
MIRT1550346	hsa-miR-576-5p	CLIP-seq
MIRT2430175	hsa-miR-577	CLIP-seq
MIRT1074538	hsa-miR-586	CLIP-seq
MIRT1550347	hsa-miR-656	CLIP-seq
MIRT2430176	hsa-miR-802	CLIP-seq
MIRT1550348	hsa-miR-922	CLIP-seq
MIRT1074539	hsa-miR-92a	CLIP-seq
MIRT1074540	hsa-miR-92b	CLIP-seq
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT2250282	hsa-miR-105	CLIP-seq
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT2553925	hsa-miR-1238	CLIP-seq
MIRT2430156	hsa-miR-1251	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT2553926	hsa-miR-186	CLIP-seq
MIRT2250284	hsa-miR-196a	CLIP-seq
MIRT2250285	hsa-miR-196b	CLIP-seq
MIRT2250286	hsa-miR-200b	CLIP-seq
MIRT2250287	hsa-miR-200c	CLIP-seq
MIRT1074518	hsa-miR-2054	CLIP-seq
MIRT2250288	hsa-miR-217	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT2250290	hsa-miR-3117-5p	CLIP-seq
MIRT2553927	hsa-miR-3125	CLIP-seq
MIRT2553928	hsa-miR-3133	CLIP-seq
MIRT2553929	hsa-miR-3136-5p	CLIP-seq
MIRT1074522	hsa-miR-3145-3p	CLIP-seq
MIRT1074523	hsa-miR-3170	CLIP-seq
MIRT1074525	hsa-miR-34b	CLIP-seq
MIRT2553930	hsa-miR-3646	CLIP-seq
MIRT2250293	hsa-miR-3647-3p	CLIP-seq
MIRT2553931	hsa-miR-3662	CLIP-seq
MIRT1074528	hsa-miR-3685	CLIP-seq
MIRT1074529	hsa-miR-3689a-5p	CLIP-seq
MIRT1074530	hsa-miR-3689b	CLIP-seq
MIRT1074531	hsa-miR-3689e	CLIP-seq
MIRT1074532	hsa-miR-3689f	CLIP-seq
MIRT2553932	hsa-miR-3916	CLIP-seq
MIRT2250294	hsa-miR-3927	CLIP-seq
MIRT2553933	hsa-miR-409-3p	CLIP-seq
MIRT2250296	hsa-miR-429	CLIP-seq
MIRT2553934	hsa-miR-4307	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT2250297	hsa-miR-4418	CLIP-seq
MIRT2553935	hsa-miR-4439	CLIP-seq
MIRT2018412	hsa-miR-448	CLIP-seq
MIRT1074534	hsa-miR-4495	CLIP-seq
MIRT2553936	hsa-miR-4635	CLIP-seq
MIRT2430166	hsa-miR-4666-5p	CLIP-seq
MIRT2553937	hsa-miR-4668-3p	CLIP-seq
MIRT2553938	hsa-miR-4679	CLIP-seq
MIRT1550342	hsa-miR-4684-5p	CLIP-seq
MIRT2250300	hsa-miR-4690-5p	CLIP-seq
MIRT1074535	hsa-miR-4698	CLIP-seq
MIRT1074536	hsa-miR-4728-3p	CLIP-seq
MIRT2553939	hsa-miR-4775	CLIP-seq
MIRT2430170	hsa-miR-4777-5p	CLIP-seq
MIRT2553940	hsa-miR-4778-3p	CLIP-seq
MIRT2553941	hsa-miR-4800-3p	CLIP-seq
MIRT2018413	hsa-miR-4803	CLIP-seq
MIRT2250301	hsa-miR-485-3p	CLIP-seq
MIRT2250303	hsa-miR-495	CLIP-seq
MIRT2250304	hsa-miR-509-3-5p	CLIP-seq
MIRT2250305	hsa-miR-509-5p	CLIP-seq
MIRT2553942	hsa-miR-526b	CLIP-seq
MIRT2553943	hsa-miR-548c-3p	CLIP-seq
MIRT2430175	hsa-miR-577	CLIP-seq
MIRT2553944	hsa-miR-578	CLIP-seq
MIRT2250306	hsa-miR-582-5p	CLIP-seq
MIRT1074538	hsa-miR-586	CLIP-seq
MIRT2553945	hsa-miR-590-3p	CLIP-seq
MIRT2250307	hsa-miR-617	CLIP-seq
MIRT2553946	hsa-miR-877	CLIP-seq
MIRT2250310	hsa-miR-935	CLIP-seq
MIRT2553947	hsa-miR-943	CLIP-seq
MIRT2250282	hsa-miR-105	CLIP-seq
MIRT1074514	hsa-miR-1208	CLIP-seq
MIRT2553925	hsa-miR-1238	CLIP-seq
MIRT2430156	hsa-miR-1251	CLIP-seq
MIRT1074515	hsa-miR-1283	CLIP-seq
MIRT2553926	hsa-miR-186	CLIP-seq
MIRT2250284	hsa-miR-196a	CLIP-seq
MIRT2250285	hsa-miR-196b	CLIP-seq
MIRT2250286	hsa-miR-200b	CLIP-seq
MIRT2250287	hsa-miR-200c	CLIP-seq
MIRT1074518	hsa-miR-2054	CLIP-seq
MIRT2250288	hsa-miR-217	CLIP-seq
MIRT1074519	hsa-miR-224	CLIP-seq
MIRT2250290	hsa-miR-3117-5p	CLIP-seq
MIRT2553927	hsa-miR-3125	CLIP-seq
MIRT2553928	hsa-miR-3133	CLIP-seq
MIRT2553929	hsa-miR-3136-5p	CLIP-seq
MIRT1074522	hsa-miR-3145-3p	CLIP-seq
MIRT1074523	hsa-miR-3170	CLIP-seq
MIRT1074525	hsa-miR-34b	CLIP-seq
MIRT2553930	hsa-miR-3646	CLIP-seq
MIRT2250293	hsa-miR-3647-3p	CLIP-seq
MIRT2553931	hsa-miR-3662	CLIP-seq
MIRT1074528	hsa-miR-3685	CLIP-seq
MIRT1074529	hsa-miR-3689a-5p	CLIP-seq
MIRT1074530	hsa-miR-3689b	CLIP-seq
MIRT1074531	hsa-miR-3689e	CLIP-seq
MIRT1074532	hsa-miR-3689f	CLIP-seq
MIRT2553932	hsa-miR-3916	CLIP-seq
MIRT2250294	hsa-miR-3927	CLIP-seq
MIRT2553933	hsa-miR-409-3p	CLIP-seq
MIRT2250296	hsa-miR-429	CLIP-seq
MIRT2553934	hsa-miR-4307	CLIP-seq
MIRT1074533	hsa-miR-4318	CLIP-seq
MIRT2250297	hsa-miR-4418	CLIP-seq
MIRT2553935	hsa-miR-4439	CLIP-seq
MIRT2018412	hsa-miR-448	CLIP-seq
MIRT1074534	hsa-miR-4495	CLIP-seq
MIRT2553936	hsa-miR-4635	CLIP-seq
MIRT2430166	hsa-miR-4666-5p	CLIP-seq
MIRT2553937	hsa-miR-4668-3p	CLIP-seq
MIRT2553938	hsa-miR-4679	CLIP-seq
MIRT1550342	hsa-miR-4684-5p	CLIP-seq
MIRT2250300	hsa-miR-4690-5p	CLIP-seq
MIRT1074535	hsa-miR-4698	CLIP-seq
MIRT1074536	hsa-miR-4728-3p	CLIP-seq
MIRT2553939	hsa-miR-4775	CLIP-seq
MIRT2430170	hsa-miR-4777-5p	CLIP-seq
MIRT2553940	hsa-miR-4778-3p	CLIP-seq
MIRT2553941	hsa-miR-4800-3p	CLIP-seq
MIRT2018413	hsa-miR-4803	CLIP-seq
MIRT2250301	hsa-miR-485-3p	CLIP-seq
MIRT2250303	hsa-miR-495	CLIP-seq
MIRT2250304	hsa-miR-509-3-5p	CLIP-seq
MIRT2250305	hsa-miR-509-5p	CLIP-seq
MIRT2553942	hsa-miR-526b	CLIP-seq
MIRT2553943	hsa-miR-548c-3p	CLIP-seq
MIRT2430175	hsa-miR-577	CLIP-seq
MIRT2553944	hsa-miR-578	CLIP-seq
MIRT2250306	hsa-miR-582-5p	CLIP-seq
MIRT1074538	hsa-miR-586	CLIP-seq
MIRT2553945	hsa-miR-590-3p	CLIP-seq
MIRT2250307	hsa-miR-617	CLIP-seq
MIRT2553946	hsa-miR-877	CLIP-seq
MIRT2250310	hsa-miR-935	CLIP-seq
MIRT2553947	hsa-miR-943	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001540	Function	Amyloid-beta binding	IPI	19849849
GO:0005515	Function	Protein binding	IPI	16027166, 17965014, 23701002, 25416956, 28514442, 31695625, 32814053, 33961781, 34446781
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	18524908
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19114711, 22194595
GO:0005886	Component	Plasma membrane	IEA
GO:0007399	Process	Nervous system development	TAS	10391242
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	IDA	17965014
GO:0031090	Component	Organelle membrane	IDA	10526337
GO:0042985	Process	Negative regulation of amyloid precursor protein biosynthetic process	IBA
GO:0042985	Process	Negative regulation of amyloid precursor protein biosynthetic process	IDA	16027166, 18524908
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145

MIM	HGNC	e!Ensembl
603904	6174	ENSG00000136156

Q9Y287

Protein name

Integral membrane protein 2B (Immature BRI2) (imBRI2) (Protein E25B) (Transmembrane protein BRI) (Bri) [Cleaved into: BRI2, membrane form (Mature BRI2) (mBRI2); BRI2 intracellular domain (BRI2 ICD); BRI2C, soluble form; Bri23 peptide (Bri2-23) (ABri23) (C

Protein function

Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a

PDB

8RNU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04089	BRICHOS	139 → 230	BRICHOS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed in brain.

Sequence

MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFG
LAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIK
IFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNL
LELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGI
QKREASNCFAIRHFENKFAVETLICS

Sequence length

266

Interactions

View interactions

	Reactome
			Amyloid fiber formation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABri amyloidosis	Likely pathogenic; Pathogenic	rs2137997888, rs104894417	RCV001809239 RCV000006345	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADan amyloidosis	Pathogenic	rs606231166	RCV000006346	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Pathogenic	rs606231283	RCV000144939	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, FAMILIAL DANISH	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITM2B-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (76)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ABri amyloidosis	Cerebral amyloid angiopathy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADan amyloidosis	ADan amyloidosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Age related macular degeneration	Age-related macular degeneration	BEFREE	28607377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15983050, 16027166, 21752865, 21841249, 25336154, 32555390, 34446781, 36102248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloid angiopathy	Amyloid angiopathy	Pubtator	16027166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	11193180, 12146803, 18410407, 21048150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	29455155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis Familial	Amyloidosis	Pubtator	29455155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	15968464, 18322382, 19225789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28085741		★★★★★ ★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	12146803, 14533778, 18282158		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25557390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21220595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31611368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	34446781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	11159188, 36102248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	18282158, 18410407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	BEFREE	10391242, 10781099, 11193182, 11419943, 11709554, 11914409, 12146803, 15913558, 16612985, 18282158, 21048150, 22514310, 25261792, 25957407		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	GENOMICS_ENGLAND_DG	10391242, 10781099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	ORPHANET_DG	10391242		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	16027166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GENOMICS_ENGLAND_DG	10781099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12114016, 21668643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10391242, 10781099, 12114016, 12196136, 15709974, 15968464, 15983050, 16027166, 16091362, 16246057, 16612984, 16972883, 18322382, 18440095, 19072909 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	10781099, 15983050, 17965014, 21752865, 32555390, 34194426, 34446781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16612984, 18282158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia familial Danish	Dementia	Pubtator	11709554, 15983050, 16091362, 18282158, 21841249, 36102248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia, familial Danish	Dementia	GENOMICS_ENGLAND_DG	10781099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, familial Danish	Dementia	ORPHANET_DG	10781099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, familial Danish	Dementia	BEFREE	11709554, 11895040, 12146803, 14690516, 15913558, 15983050, 16612985, 18282158, 18410407, 18440095, 21098268, 21587206, 21841249, 22170863, 23418567, 25557390, 31695625 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, familial Danish	Dementia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, familial Danish	Dementia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30223783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	26942869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	BEFREE	15983050, 16246057, 24099305, 26528887, 27514716, 29687167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	11914409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	22228705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	18322382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31829752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GENOMICS_ENGLAND_DG	10781099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	34168281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	21668643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25557390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21220595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12114016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29779870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15897880, 17702869, 21220595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25336154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25336154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	11159188, 16027166, 16091362, 25336154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17029605, 18440095, 21048150, 23418567, 25557390, 25957407, 26862951, 31695625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29480190		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pick Disease of the Brain	Pica	BEFREE	11914409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10391242, 10781099, 12114016, 16027166, 16091362, 16246057, 18322382, 19072909, 20036644, 21098268, 21587206, 24026677, 24473189, 26528887, 27514716, 30890756 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12886522, 19935703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	21668643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	21668643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	12114016, 21668643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24026677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	24026677, 31731182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies	UNIPROT_DG	24026677		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies	ORPHANET_DG	24026677		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senile Plaques	Senile Plaques	BEFREE	24524963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	GENOMICS_ENGLAND_DG	10781099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12114016		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25557390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	36102248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ITM2B (integral membrane protein 2B)