Reactome | ITM2B(244-266) [extracellular region]

ITM2B(244-266) [extracellular region]

Stable Identifier

R-HSA-976878

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

ABri/ADan amyloid peptide, Integral membrane protein 2B, ITM2B_HUMAN, ITM2B

Locations in the PathwayBrowser

Expand all

General

The ABri and ADan peptides are extensions of the normal C terminus of ITM2B (BRI). The sequence of ABri results from mutatin of the normal stop codon to R, resulting in an additional 11 residues. The ABri peptide is the last 34 residues of this mutated peptide - EASNCFAIRHFENKFAVETLICSRTVKKNIIEEN. The ADan peptide is the result of a 10 nucleotide insertion between the codons for residue 265 and 266, introducing a frameshift that adds a different extension to the normal peptide. The ADan peptide is the last 34 residues of this mutated peptide, identical to ABri for the first 22 residues. EASNCFAIRHFENKFAVETLICFNLFLNSQEKHY

External Reference Information

External Reference

UniProt:Q9Y287 ITM2B

Gene Names

ITM2B, BRI, BRI2

Chain

chain:1-266, chain:1-243, chain:1-, chain:-243, peptide:244-266

Reference Genes

BioGPS Gene:9445 ITM2B

COSMIC (genes):ITM2B ITM2B

CTD Gene:9445 ITM2B

dbSNP Gene:9445 ITM2B

ENSEMBL:ENSG00000136156 ITM2B

ENSEMBL_homo_sapiens_GENE:ENSG00000136156.15 ITM2B

HGNC:6174 ITM2B

KEGG Gene (Homo sapiens):9445 ITM2B

Monarch:9445 ITM2B

NCBI Gene:9445 ITM2B

OMIM:603904 ITM2B

UCSC:Q9Y287 ITM2B

Reference Transcript

RefSeq:NM_021999.4 ITM2B

Other Identifiers

11715723_s_at

11715724_s_at

11715725_x_at

16774679

217731_PM_s_at

217731_s_at

217732_PM_s_at

217732_s_at

3488989

3488990

3488991

3489001

3489003

3489005

3489007

3489009

3489010

3489011

3489012

3489013

3489014

3489015

3489017

3489019

3489021

3489022

41300_s_at

44784_at

48830_r_at

51682_s_at

73196_s_at

7969003

83623_at

9445

A_14_P101508

A_19_P00806659

A_24_P381604

A_33_P3302255

GE527460

GE80445

GO:0000139

GO:0001540

GO:0005515

GO:0005524

GO:0005576

GO:0005615

GO:0005768

GO:0005794

GO:0005886

GO:0007399

GO:0010008

GO:0016020

GO:0030660

GO:0031090

GO:0031410

GO:0042985

GO:0043226

GO:0043231

GO:0048856

GO:0070062

GO:1901135

HMNXSV003057212

ILMN_1751708

ILMN_2207720

PH_hs_0026097

TC13000189.hg

g11527401_3p_at

g5138905_3p_a_at

Participates

as a member of

Systemic amyloid fibril monomers [extracellular region] (Homo sapiens)

as a repeated unit of

ABri/ADan amyloid fibril [extracellular region] (Homo sapiens)

Cross References

RefSeq

NP_068839.1

OpenTargets

ENSG00000136156

GeneCards

Q9Y287

HPA

ENSG00000136156-ITM2B

Ensembl

ENSG00000136156, ENST00000378549, ENSP00000367811, ENSP00000497221, ENST00000647800

PRO

Q9Y287

Pharos - Targets

Q9Y287

Orphanet

16276

Interactors (7)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P05067 APP	20	APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-687) [extracellular region] (R-HSA-9010033) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(18-770) [endosome lumen] (R-HSA-5229077) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP [endoplasmic reticulum lumen] (R-HSA-8956696) APP(672-711) [extracellular region] (R-HSA-976740) APP(672-711) [cytosol] (R-HSA-877188) APP(672-713) [extracellular region] (R-HSA-879340)	0.775	6
UniProt:P56817 BACE1	8	BACE1 [endoplasmic reticulum lumen] (R-HSA-6783326) 7K-BACE1 [endoplasmic reticulum lumen] (R-HSA-5693006) BACE1(22-45) [Golgi-associated vesicle lumen] (R-HSA-5693069) 7K-BACE1 [Golgi-associated vesicle lumen] (R-HSA-5693095) 7K-BACE1(46-501) [Golgi-associated vesicle lumen] (R-HSA-5693106) BACE1(46-501) [Golgi-associated vesicle lumen] (R-HSA-5693105) BACE1(46-501) [plasma membrane] (R-HSA-5692933) BACE1 [endosome membrane] (R-HSA-5692942)	0.556	4
UniProt:P26715 KLRC1	1	KLRC1 [plasma membrane] (R-HSA-3006545)	0.556	3
UniProt:O43889 CREB3	7	CREB3(1-256) [nucleoplasm] (R-HSA-8874190) CREB3(1-256) [cytosol] (R-HSA-8874135) CREB3(1-291) [Golgi membrane] (R-HSA-8874181) CREB3(257-291) [Golgi membrane] (R-HSA-8874207) CREB3 [Golgi membrane] (R-HSA-8874123) CREB3(292-371) [Golgi membrane] (R-HSA-8874173) CREB3 [endoplasmic reticulum membrane] (R-HSA-8874165)	0.553	2
UniProt:Q86XT9 TMEM219	1	TMEM219 [plasma membrane] (R-HSA-6800018)	0.527	2
UniProt:Q8WVV5 BTN2A2	1	BTN2A2 [plasma membrane] (R-HSA-8851047)	0.527	2
UniProt:P04578 env	7	Surface protein gp120 (P04578) [cytosol] (R-HIV-189269) Transmembrane protein gp41 (P04578) [cytosol] (R-HIV-189359) Glycosylated Envelope glycoprotein gp160 [Golgi membrane] (R-HIV-3149443) Envelope glycoprotein gp160 [endoplasmic reticulum membrane] (R-HIV-189343) Transmembrane protein gp41 [viral envelope] (R-HIV-171195) ENV [viral envelope] (R-HIV-173439) Surface protein gp120 [viral envelope] (R-HIV-171211)	0.462	3