Seroatlas · Human Serome Atlas

TMEM114

Transmembrane protein 114

Also known as: TM114_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: B3SHH9
Gene: TMEM114
Ensembl: ENSG00000232258
Chromosome: 16
Canonical length: 223 aa
Protein class: Disease related genes, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

223 residues, UniProt reviewed canonical sequence.

>B3SHH9|TMEM114
     1  MRVHLGGLAG AAALTGALSF VLLAAAIGTD FWYIIDTERL ERTGPGAQDL LGSINRSQPE
    61  PLSSHSGLWR TCRVQSPCTP LMNPFRLENV TVSESSRQLL TMHGTFVILL PLSLILMVFG
   121  GMTGFLSFLL QAYLLLLLTG ILFLFGAMVT LAGISVYIAY SAAAFREALC LLEEKALLDQ
   181  VDISFGWSLA LGWISFIAEL LTGAAFLAAA RELSLRRRQD QAI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM114 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: 4
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

seminal vesicle: 15 nTPM
hypothalamus: 2.9 nTPM
pituitary gland: 0.5 nTPM
epididymis: 0.3 nTPM
tongue: 0.2 nTPM
adrenal gland: 0.1 nTPM

Single-cell type

other brain neurons: 4.6 nCPM
paneth cells: 3.9 nCPM
retinal ganglion cells: 3.9 nCPM
gonadotrophs: 2.4 nCPM
epicardial cells: 2.3 nCPM
kupffer cells: 2 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: 5 nTPM
pons: 4.4 nTPM
midbrain: 2.8 nTPM
medulla oblongata: 2 nTPM
cerebral cortex: 1.7 nTPM
basal ganglia: 0.8 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): 1.82
gnomAD pLI: 0.03
gnomAD missense Z: -0.36

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM114 as an antibody target. Whether an autoantibody or antibody against TMEM114 could matter depends on whether native TMEM114 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM114 is annotated at the cell surface, where native TMEM114 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 TMEM114 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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