Seroatlas · Human Serome Atlas

TMEM231

Transmembrane protein 231

Also known as: ALYE870, FLJ22167, JBTS20, MKS11, PRO1886, TM231_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H6L2
Gene: TMEM231
Ensembl: ENSG00000205084
Chromosome: 16
Canonical length: 316 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus,Vesicles,Mid piece

OverviewNCBI Gene

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

316 residues, UniProt reviewed canonical sequence.

>Q9H6L2|TMEM231
     1  MALYELFSHP VERSYRAGLC SKAALFLLLA AALTYIPPLL VAFRSHGFWL KRSSYEEQPT
    61  VRFQHQVLLV ALLGPESDGF LAWSTFPAFN RLQGDRLRVP LVSTREEDRN QDGKTDMLHF
   121  KLELPLQSTE HVLGVQLILT FSYRLHRMAT LVMQSMAFLQ SSFPVPGSQL YVNGDLRLQQ
   181  KQPLSCGGLD ARYNISVING TSPFAYDYDL THIVAAYQER NVTTVLNDPN PIWLVGRAAD
   241  APFVINAIIR YPVEVISYQP GFWEMVKFAW VQYVSILLIF LWVFERIKIF VFQNQVVTTI
   301  PVTVTPRGDL CKEHLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM231 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: 2
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 69 nTPM
choroid plexus: 38 nTPM
parathyroid gland: 9.5 nTPM
thyroid gland: 7.5 nTPM
seminal vesicle: 7.4 nTPM
cervix: 7.3 nTPM

Single-cell type

ependymal cells: 79 nCPM
choroid plexus epithelial cells: 14 nCPM
astrocytes: 11 nCPM
renal collecting duct principal cells: 9.8 nCPM
brain inhibitory neurons: 9.7 nCPM
other brain neurons: 8.3 nCPM

Immune cell

memory B-cell: 2.3 nTPM
neutrophil: 1.2 nTPM
plasmacytoid DC: 1.2 nTPM
basophil: 1.1 nTPM
myeloid DC: 1.1 nTPM
MAIT T-cell: 0.9 nTPM

Brain region

choroid plexus: 29 nTPM
midbrain: 26 nTPM
medulla oblongata: 26 nTPM
spinal cord: 24 nTPM
hypothalamus: 20 nTPM
thalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM231.

Disease | AllUniProt

Conditions TMEM231 is implicated in, by any mechanism.

Joubert syndrome 20 (JBTS20) MIM:614970
Meckel syndrome 11 (MKS11) MIM:615397

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 523 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Meckel syndrome, type 11
Joubert syndrome 20
Joubert syndrome and related disorders
TMEM231-related disorder
Ciliopathy

Disease | ImmuneIEDB

Conditions an epitope on TMEM231 was assayed in.

glioblastoma T cell

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): 1.21
gnomAD pLI: 0
gnomAD missense Z: -0.41
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Transmembrane protein 231
Transmembrane protein 231

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM231 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 TMEM231 as an antibody target. Whether an autoantibody or antibody against TMEM231 could matter depends on whether native TMEM231 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM231 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 TMEM231 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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