TM2D1
TM2 domain-containing protein 1
Also known as: BBP, TM2D1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BX74
- Gene
- TM2D1
- Ensembl
- ENSG00000162604
- Chromosome
- 1
- Canonical length
- 207 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Canonical amino-acid sequenceUniProt
207 residues, UniProt reviewed canonical sequence.
>Q9BX74|TM2D1
1 MAAAWPSGPS APEAVTARLV GVLWFVSVTT GPWGAVATSA GGEESLKCED LKVGQYICKD
61 PKINDATQEP VNCTNYTAHV SCFPAPNITC KDSSGNETHF TGNEVGFFKP ISCRNVNGYS
121 YKVAVALSLF LGWLGADRFY LGYPALGLLK FCTVGFCGIG SLIDFILISM QIVGPSDGSS
181 YIIDYYGTRL TRLSITNETF RKTQLYPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TM2D1 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)
- 0.45
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 43 nTPM
- heart muscle: 43 nTPM
- parathyroid gland: 39 nTPM
- skeletal muscle: 38 nTPM
- ovary: 38 nTPM
- thyroid gland: 38 nTPM
Single-cell type
- early primary spermatocytes: 176 nCPM
- parietal cells: 161 nCPM
- neutrophil progenitors: 155 nCPM
- late primary spermatocytes: 154 nCPM
- esophageal apical cells: 140 nCPM
- myonuclei: 129 nCPM
Immune cell
- basophil: 53 nTPM
- eosinophil: 45 nTPM
- plasmacytoid DC: 36 nTPM
- non-classical monocyte: 27 nTPM
- T-reg: 24 nTPM
- memory B-cell: 24 nTPM
Brain region
- white matter: 21 nTPM
- choroid plexus: 19 nTPM
- cerebellum: 19 nTPM
- midbrain: 18 nTPM
- spinal cord: 18 nTPM
- hypothalamus: 18 nTPM
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)
- 1.12
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 TM2D1 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 TM2D1 as an antibody target. Whether an autoantibody or antibody against TM2D1 could matter depends on whether native TM2D1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TM2D1 is annotated at the cell surface, where native TM2D1 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 TM2D1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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