Seroatlas · Human Serome Atlas

TM2D3

TM2 domain-containing protein 3

Also known as: BLP2, FLJ22604, TM2D3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9BRN9
Gene: TM2D3
Ensembl: ENSG00000184277
Chromosome: 15
Canonical length: 247 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

247 residues, UniProt reviewed canonical sequence.

>Q9BRN9|TM2D3
     1  MAGGVLPLRG LRALCRVLLF LSQFCILSGG EQSQALAQSI KDPGPTRTFT VVPRAAESTE
    61  IPPYVMKCPS NGLCSRLPAD CIDCTTNFSC TYGKPVTFDC AVKPSVTCVD QDFKSQKNFI
   121  INMTCRFCWQ LPETDYECTN STSCMTVSCP RQRYPANCTV RDHVHCLGNR TFPKMLYCNW
   181  TGGYKWSTAL ALSITLGGFG ADRFYLGQWR EGLGKLFSFG GLGIWTLIDV LLIGVGYVGP
   241  ADGSLYI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TM2D3 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: 2
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 77 nTPM

Expression across tissuesHPA

Tissue

hypothalamus: 77 nTPM
cerebral cortex: 74 nTPM
ovary: 59 nTPM
liver: 55 nTPM
hippocampal formation: 54 nTPM
tongue: 52 nTPM

Single-cell type

oocytes: 286 nCPM
syncytiotrophoblasts: 119 nCPM
decidual stromal cells: 113 nCPM
neutrophils: 104 nCPM
differentiating spermatogonia: 101 nCPM
early primary spermatocytes: 99 nCPM

Immune cell

eosinophil: 82 nTPM
neutrophil: 70 nTPM
NK-cell: 53 nTPM
MAIT T-cell: 46 nTPM
naive B-cell: 45 nTPM
naive CD4 T-cell: 44 nTPM

Brain region

hypothalamus: 62 nTPM
basal ganglia: 45 nTPM
cerebral cortex: 44 nTPM
midbrain: 38 nTPM
pons: 38 nTPM
thalamus: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TM2D3.

Disease | AllUniProt

Conditions TM2D3 is implicated in, by any mechanism.

Alzheimer disease (AD) MIM:104300

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 55 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

TM2D3-related disorder
Neurocardiorenal malformation syndrome

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): 1.69
gnomAD pLI: 0
gnomAD missense Z: -0.74
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

plasma membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TM2D3 as an antibody target. Whether an autoantibody or antibody against TM2D3 could matter depends on whether native TM2D3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TM2D3 is annotated at the cell surface, where native TM2D3 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 TM2D3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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