TM6SF2
Transmembrane 6 superfamily member 2
Also known as: Lpr4, TM6S2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZW4
- Gene
- TM6SF2
- Ensembl
- ENSG00000213996
- Chromosome
- 19
- Canonical length
- 377 aa
- Protein class
- Human disease related genes, Predicted membrane proteins, Transporters
OverviewNCBI Gene
Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
377 residues, UniProt reviewed canonical sequence.
>Q9BZW4|TM6SF2
1 MDIPPLAGKI AALSLSALPV SYALNHVSAL SHPLWVALMS ALILGLLFVA VYSLSHGEVS
61 YDPLYAVFAV FAFTSVVDLI IALQEDSYVV GFMEFYTKEG EPYLRTAHGV FICYWDGTVH
121 YLLYLAMAGA ICRRKRYRNF GLYWLGSFAM SILVFLTGNI LGKYSSEIRP AFFLTIPYLL
181 VPCWAGMKVF SQPRALTRCT ANMVQEEQRK GLLQRPADLA LVIYLILAGF FTLFRGLVVL
241 DCPTDACFVY IYQYEPYLRD PVAYPKVQML MYMFYVLPFC GLAAYALTFP GCSWLPDWAL
301 VFAGGIGQAQ FSHMGASMHL RTPFTYRVPE DTWGCFFVCN LLYALGPHLL AYRCLQWPAF
361 FHQPPPSDPL ALHKKQHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TM6SF2 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 71 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 71 nTPM
- small intestine: 65 nTPM
- liver: 32 nTPM
- kidney: 3.1 nTPM
- stomach: 2.3 nTPM
- colon: 2 nTPM
Single-cell type
- proximal tubule cells: 10 nCPM
- enterocytes: 3.9 nCPM
- other brain neurons: 3.9 nCPM
- oligodendrocyte progenitor cells: 3.8 nCPM
- bergmann glia: 1.5 nCPM
- brain inhibitory neurons: 1.4 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
- hypothalamus: 1.5 nTPM
- choroid plexus: 0.9 nTPM
- cerebral cortex: 0.7 nTPM
- medulla oblongata: 0.6 nTPM
- midbrain: 0.6 nTPM
- cerebellum: 0.5 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)
- 0.92
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.78
- 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
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TM6SF2 as an antibody target. Whether an autoantibody or antibody against TM6SF2 could matter depends on whether native TM6SF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TM6SF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TM6SF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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