TMEM240
Transmembrane protein 240
Also known as: C1orf70, SCA21, TM240_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5SV17
- Gene
- TMEM240
- Ensembl
- ENSG00000205090
- Chromosome
- 1
- Canonical length
- 173 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
Canonical amino-acid sequenceUniProt
173 residues, UniProt reviewed canonical sequence.
>Q5SV17|TMEM240
1 MSMSANTMIF MILGASVVMA IACLMDMNAL LDRFHNYILP HLRGEDRVCH CNCGRHHIHY
61 VIPYDGDQSV VDASENYFVT DSVTKQEIDL MLGLLLGFCI SWFLVWMDGV LHCAVRAWRA
121 GRRYDGSWTW LPKLCSLREL GRRPHRPFEE AAGNMVHVKQ KLYHNGHPSP RHLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TMEM240 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)
- 0.57
- Highest tissue expression
- 61 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 61 nTPM
- cerebral cortex: 40 nTPM
- basal ganglia: 39 nTPM
- hippocampal formation: 30 nTPM
- amygdala: 27 nTPM
- hypothalamus: 21 nTPM
Single-cell type
- brain excitatory neurons: 29 nCPM
- brain inhibitory neurons: 28 nCPM
- retinal horizontal cells: 24 nCPM
- retinal amacrine cells: 24 nCPM
- other brain neurons: 22 nCPM
- hepatic stellate cells: 19 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 39 nTPM
- cerebral cortex: 33 nTPM
- hippocampal formation: 30 nTPM
- basal ganglia: 28 nTPM
- amygdala: 26 nTPM
- white matter: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TMEM240.
Disease | AllUniProt
Conditions TMEM240 is implicated in, by any mechanism.
- Spinocerebellar ataxia 21 (SCA21) MIM:607454
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 158 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia type 21
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)
- 0.87
- gnomAD pLI
- 0.23
- gnomAD missense Z
- 1.55
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- TMEM240 family
- TMEM240 family
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TMEM240 as an antibody target. Whether an autoantibody or antibody against TMEM240 could matter depends on whether native TMEM240 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TMEM240 is annotated at the cell surface, where native TMEM240 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 TMEM240 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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