Seroatlas · Human Serome Atlas

TMEM138

Transmembrane protein 138

Also known as: HSPC196, JBTS16, TM138_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NPI0
Gene: TMEM138
Ensembl: ENSG00000149483
Chromosome: 11
Canonical length: 162 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Microtubules,Primary cilium

OverviewNCBI Gene

This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

162 residues, UniProt reviewed canonical sequence.

>Q9NPI0|TMEM138
     1  MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL FNIIIIFLMF
    61  FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM NLRWKNSNSF IWTDGLQMLF
   121  VFQRLAAVLY CYFYKRTAVR LGDPHFYQDS LWLRKEFMQV RR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM138 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: 4
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

retina: 53 nTPM
adrenal gland: 30 nTPM
skin: 19 nTPM
epididymis: 19 nTPM
liver: 18 nTPM
tonsil: 18 nTPM

Single-cell type

rod photoreceptor cells: 135 nCPM
adrenal cortex cells: 82 nCPM
cytotrophoblasts: 73 nCPM
migrating cytotrophoblasts: 49 nCPM
extravillous trophoblasts: 49 nCPM
decidual stromal cells: 46 nCPM

Immune cell

basophil: 34 nTPM
T-reg: 23 nTPM
eosinophil: 21 nTPM
plasmacytoid DC: 21 nTPM
intermediate monocyte: 20 nTPM
naive B-cell: 19 nTPM

Brain region

midbrain: 41 nTPM
cerebellum: 37 nTPM
choroid plexus: 37 nTPM
medulla oblongata: 37 nTPM
cerebral cortex: 35 nTPM
hypothalamus: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM138.

Disease | AllUniProt

Conditions TMEM138 is implicated in, by any mechanism.

Joubert syndrome 16 (JBTS16) MIM:614465

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 196 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 1.11
gnomAD pLI: 0.05
gnomAD missense Z: 0.47
DepMap mean gene effect: -0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

cilium assembly

Cellular components

Protein domainsUniProt · Pfam · InterPro

Transmembrane protein 138
Transmembrane protein 138

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM138 as an antibody target. Whether an autoantibody or antibody against TMEM138 could matter depends on whether native TMEM138 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM138 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 TMEM138 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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