TM9SF2
Transmembrane 9 superfamily member 2
Also known as: P76, TM9S2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99805
- Gene
- TM9SF2
- Ensembl
- ENSG00000125304
- Chromosome
- 13
- Canonical length
- 663 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
Canonical amino-acid sequenceUniProt
663 residues, UniProt reviewed canonical sequence.
>Q99805|TM9SF2
1 MSARLPVLSP PRWPRLLLLS LLLLGAVPGP RRSGAFYLPG LAPVNFCDEE KKSDECKAEI
61 ELFVNRLDSV ESVLPYEYTA FDFCQASEGK RPSENLGQVL FGERIEPSPY KFTFNKKETC
121 KLVCTKTYHT EKAEDKQKLE FLKKSMLLNY QHHWIVDNMP VTWCYDVEDG QRFCNPGFPI
181 GCYITDKGHA KDACVISSDF HERDTFYIFN HVDIKIYYHV VETGSMGARL VAAKLEPKSF
241 KHTHIDKPDC SGPPMDISNK ASGEIKIAYT YSVSFEEDDK IRWASRWDYI LESMPHTHIQ
301 WFSIMNSLVI VLFLSGMVAM IMLRTLHKDI ARYNQMDSTE DAQEEFGWKL VHGDIFRPPR
361 KGMLLSVFLG SGTQILIMTF VTLFFACLGF LSPANRGALM TCAVVLWVLL GTPAGYVAAR
421 FYKSFGGEKW KTNVLLTSFL CPGIVFADFF IMNLILWGEG SSAAIPFGTL VAILALWFCI
481 SVPLTFIGAY FGFKKNAIEH PVRTNQIPRQ IPEQSFYTKP LPGIIMGGIL PFGCIFIQLF
541 FILNSIWSHQ MYYMFGFLFL VFIILVITCS EATILLCYFH LCAEDYHWQW RSFLTSGFTA
601 VYFLIYAVHY FFSKLQITGT ASTILYFGYT MIMVLIFFLF TGTIGFFACF WFVTKIYSVV
661 KVDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TM9SF2 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)
- 0.28
- Highest tissue expression
- 158 nTPM
Expression across tissuesHPA
Tissue
- liver: 158 nTPM
- parathyroid gland: 119 nTPM
- rectum: 116 nTPM
- thyroid gland: 113 nTPM
- duodenum: 112 nTPM
- small intestine: 112 nTPM
Single-cell type
- neutrophil progenitors: 353 nCPM
- esophageal apical cells: 287 nCPM
- neutrophils: 271 nCPM
- syncytiotrophoblasts: 257 nCPM
- gastric progenitor cells: 233 nCPM
- prostatic hillock cells: 224 nCPM
Immune cell
- neutrophil: 252 nTPM
- basophil: 193 nTPM
- non-classical monocyte: 183 nTPM
- intermediate monocyte: 181 nTPM
- total PBMC: 178 nTPM
- eosinophil: 175 nTPM
Brain region
- choroid plexus: 106 nTPM
- white matter: 68 nTPM
- hypothalamus: 58 nTPM
- spinal cord: 57 nTPM
- basal ganglia: 52 nTPM
- thalamus: 51 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)
- 0.08
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.27
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ceramide metabolic process
- glycosphingolipid biosynthetic process
- protein localization to membrane
- regulation of heparan sulfate proteoglycan biosynthetic process
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TM9SF2 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 TM9SF2 as an antibody target. Whether an autoantibody or antibody against TM9SF2 could matter depends on whether native TM9SF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TM9SF2 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 TM9SF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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