Seroatlas · Human Serome Atlas

TMTC2

Protein O-mannosyl-transferase TMTC2

Also known as: DKFZp762A217, TMTC2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8N394
Gene: TMTC2
Ensembl: ENSG00000179104
Chromosome: 12
Canonical length: 836 aa
Protein class: Enzymes, Predicted membrane proteins
Subcellular location: Plasma membrane,Actin filaments

OverviewNCBI Gene

The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

836 residues, UniProt reviewed canonical sequence.

>Q8N394|TMTC2
     1  MIAELVSSAL GLALYLNTLS ADFCYDDSRA IKTNQDLLPE TPWTHIFYND FWGTLLTHSG
    61  SHKSYRPLCT LSFRLNHAIG GLNPWSYHLV NVLLHAAVTG LFTSFSKILL GDGYWTFMAG
   121  LMFASHPIHT EAVAGIVGRA DVGASLFFLL SLLCYIKHCS TRGYSARTWG WFLGSGLCAG
   181  CSMLWKEQGV TVLAVSAVYD VFVFHRLKIK QILPTIYKRK NLSLFLSISL LIFWGSSLLG
   241  ARLYWMGNKP PSFSNSDNPA ADSDSLLTRT LTFFYLPTKN LWLLLCPDTL SFDWSMDAVP
   301  LLKTVCDWRN LHTVAFYTGL LLLAYYGLKS PSVDRECNGK TVTNGKQNAN GHSCLSDVEY
   361  QNSETKSSFA SKVENGIKND VSQRTQLPST ENIVVLSLSL LIIPFVPATN LFFYVGFVIA
   421  ERVLYIPSMG FCLLITVGAR ALYVKVQKRF LKSLIFYATA TLIVFYGLKT AIRNGDWQNE
   481  EMLYRSGIKV NPAKAWGNLG NVLKSQSKIS EAESAYRNAL YYRSNMADML YNLGLLLQEN
   541  SRFAEALHYY KLAIGSRPTL ASAYLNTGII LMNQGRTEEA RRTFLKCSEI PDENLKDPHA
   601  HKSSVTSCLY NLGKLYHEQG HYEEALSVYK EAIQKMPRQF APQSLYNMMG EAYMRLSKLP
   661  EAEHWYMESL RSKTDHIPAH LTYGKLLALT GRKSEAEKLF LKAIELDPTK GNCYMHYGQF
   721  LLEEARLIEA AEMAKKAAEL DSTEFDVVFN AAHMLRQASL NEAAEKYYDL AARLRPNYPA
   781  ALMNLGAILH LNGRLQKAEA NYLRALQLKP DDVITQSNLR KLWNIMEKQG LKTSKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMTC2 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: Intracellular
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 15 nTPM
colon: 11 nTPM
seminal vesicle: 11 nTPM
stomach: 10 nTPM
fallopian tube: 9.4 nTPM
midbrain: 9.4 nTPM

Single-cell type

oligodendrocytes: 2,384 nCPM
renal connecting tubule cells: 1,202 nCPM
renal collecting duct principal cells: 856 nCPM
corticotrophs: 840 nCPM
retinal bipolar cells: 779 nCPM
melanocytes: 709 nCPM

Immune cell

classical monocyte: 0.9 nTPM
myeloid DC: 0.7 nTPM
intermediate monocyte: 0.3 nTPM
memory B-cell: 0.3 nTPM
non-classical monocyte: 0.2 nTPM
total PBMC: 0.2 nTPM

Brain region

white matter: 148 nTPM
basal ganglia: 108 nTPM
cerebral cortex: 93 nTPM
midbrain: 89 nTPM
medulla oblongata: 88 nTPM
thalamus: 82 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): 0.48
gnomAD pLI: 0.02
gnomAD missense Z: 0.54
DepMap mean gene effect: -0.01
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMTC2 as an antibody target. Whether an autoantibody or antibody against TMTC2 could matter depends on whether native TMTC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMTC2 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 TMTC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...