Seroatlas · Human Serome Atlas

ITM2B

Integral membrane protein 2B

Also known as: BRI, BRI2, BRICD2B, E25B, E3-16, ITM2B_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y287
Gene
ITM2B
Ensembl
ENSG00000136156
Chromosome
13
Canonical length
266 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins, Transporters
Subcellular location
Golgi apparatus,Vesicles
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

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 furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

266 residues, UniProt reviewed canonical sequence.

>Q9Y287|ITM2B
     1  MVKVTFNSAL AQKEAKKDEP KSGEEALIIP PDAVAVDCKD PDDVVPVGQR RAWCWCMCFG
    61  LAFMLAGVIL GGAYLYKYFA LQPDDVYYCG IKYIKDDVIL NEPSADAPAA LYQTIEENIK
   121  IFEEEEVEFI SVPVPEFADS DPANIVHDFN KKLTAYLDLN LDKCYVIPLN TSIVMPPRNL
   181  LELLINIKAG TYLPQSYLIH EHMVITDRIE NIDHLGFFIY RLCHDKETYK LQRRETIKGI
   241  QKREASNCFA IRHFENKFAV ETLICS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ITM2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
1,220 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 1,220 nTPM
  • epididymis: 1,107 nTPM
  • placenta: 539 nTPM
  • adipose tissue: 479 nTPM
  • ovary: 472 nTPM
  • spinal cord: 450 nTPM

Single-cell type

  • epididymal principal cells: 6,028 nCPM
  • platelets: 5,582 nCPM
  • neutrophils: 4,597 nCPM
  • extravillous trophoblasts: 3,847 nCPM
  • hofbauer cells: 3,696 nCPM
  • epididymal basal cells: 3,092 nCPM

Immune cell

  • neutrophil: 4,400 nTPM
  • basophil: 3,102 nTPM
  • eosinophil: 2,745 nTPM
  • total PBMC: 1,725 nTPM
  • classical monocyte: 867 nTPM
  • non-classical monocyte: 697 nTPM

Brain region

  • choroid plexus: 688 nTPM
  • white matter: 648 nTPM
  • spinal cord: 627 nTPM
  • hypothalamus: 555 nTPM
  • medulla oblongata: 538 nTPM
  • cerebellum: 522 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ITM2B.

Disease | AllUniProt

Conditions ITM2B is implicated in, by any mechanism.

  • Cerebral amyloid angiopathy, ITM2B-related 1 (CAA-ITM2B1) MIM:176500
  • Cerebral amyloid angiopathy, ITM2B-related 2 (CAA-ITM2B2) MIM:117300
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) MIM:616079

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 185 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • ABri amyloidosis
  • ADan amyloidosis
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Disease | ImmuneIEDB

Conditions an epitope on ITM2B was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.54
gnomAD pLI
0.63
gnomAD missense Z
1.04
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ITM2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ITM2B as an antibody target. Whether an autoantibody or antibody against ITM2B could matter depends on whether native ITM2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ITM2B is annotated at the cell surface, where native ITM2B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ITM2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ITM2B. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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