Seroatlas · Human Serome Atlas

TMEM216

Transmembrane protein 216

Also known as: CORS2, HSPC244, JBTS2, MGC13379, MKS2, TM216_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9P0N5
Gene
TMEM216
Ensembl
ENSG00000187049
Chromosome
11
Canonical length
145 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

145 residues, UniProt reviewed canonical sequence.

>Q9P0N5|TMEM216
     1  MLPRGLKMAP RGKRLSSTPL EILFFLNGWY NATYFLLELF IFLYKGVLLP YPTANLVLDV
    61  VMLLLYLGIE VIRLFFGTKG NLCQRKMPLS ISVALTFPSA MMASYYLLLQ TYVLRLEAIM
   121  NGILLFFCGS ELLLEVLTLA AFSRI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM216 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)
0.34
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 29 nTPM
  • pituitary gland: 23 nTPM
  • fallopian tube: 22 nTPM
  • breast: 20 nTPM
  • choroid plexus: 19 nTPM
  • cervix: 19 nTPM

Single-cell type

  • early primary spermatocytes: 41 nCPM
  • decidual stromal cells: 38 nCPM
  • breast myoepithelial cells: 37 nCPM
  • breast lactating cells: 37 nCPM
  • granulosa cells: 32 nCPM
  • fallopian tube ciliated cells: 29 nCPM

Immune cell

  • eosinophil: 233 nTPM
  • basophil: 97 nTPM
  • NK-cell: 81 nTPM
  • memory B-cell: 53 nTPM
  • neutrophil: 53 nTPM
  • naive B-cell: 52 nTPM

Brain region

  • thalamus: 12 nTPM
  • midbrain: 12 nTPM
  • hypothalamus: 11 nTPM
  • choroid plexus: 10 nTPM
  • amygdala: 10 nTPM
  • spinal cord: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM216.

Disease | AllUniProt

Conditions TMEM216 is implicated in, by any mechanism.

Disease | GeneticClinVar

55 pathogenic / likely-pathogenic of 328 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)
1.37
gnomAD pLI
0
gnomAD missense Z
0.49
DepMap mean gene effect
-0.22
DepMap dependency class
selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM216 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 TMEM216 as an antibody target. Whether an autoantibody or antibody against TMEM216 could matter depends on whether native TMEM216 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM216 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 TMEM216 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM216. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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