ITM2B(244-266) [extracellular region]

Stable Identifier
R-HSA-976878
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ABri/ADan amyloid peptide, Integral membrane protein 2B, ITM2B_HUMAN, ITM2B
Locations in the PathwayBrowser
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
Gene Names
ITM2B, BRI, BRI2
Chain
chain:1-266, chain:1-243, chain:1-, chain:-243, peptide:244-266
Reference Transcript
Other Identifiers
11715723_s_at
11715724_s_at
11715725_x_at
16774679
217731_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
71992
73196_s_at
7969003
83623_at
9445
A0A384MDP7
A0A3B3ITP9
A0A3B3IU60
A0A3B3IUC0
A_14_P101508
A_19_P00806659
A_24_P381604
A_33_P3302255
AAD40370
AAD45280
AAF66130
AAG49434
AAH00554
AAH16148
AAP35509
AAP88930
ADO22246
AF092128
AF136973
AF152462
AF246221
AY341247
BC000554
BC016148
BT006863
CCDS9409
CH471075
EAX08789
EAX08790
ENSG00000136156
ENSP00000367811
ENSP00000497221
ENST00000378549
ENST00000378549.5
ENST00000378565.9
ENST00000647800
EntrezGene:9445
EntrezGene:ITM2B
g11527401_3p_at
g5138905_3p_a_at
GE527460
GE80445
GO:0000139
GO:0001540
GO:0003674
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005768
GO:0005794
GO:0005886
GO:0007399
GO:0008150
GO:0009058
GO:0010008
GO:0016020
GO:0016021
GO:0030660
GO:0031301
GO:0031410
GO:0042985
GO:0043167
GO:0043226
GO:0043231
GO:0044267
GO:0048856
GO:0070062
GQ891384
HGNC:6174
HPA029292
HPA071992
ILMN_1751708
ILMN_2207720
IPR007084
IPR040145
ITM2B
ITM2B-201
ITM2B-204
MIM:117300
MIM:176500
MIM:603904
MIM:616079
NM_021999
NP_068839
PF04089
PH_hs_0026097
SM01039
TC13000189.hg
UPI00000009FF
UPI000045886B
Participant Of
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet