Seroatlas · Human Serome Atlas

TMEM237

Transmembrane protein 237

Also known as: ALS2CR4, JBTS14, TM237_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96Q45
Gene: TMEM237
Ensembl: ENSG00000155755
Chromosome: 2
Canonical length: 408 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Nuclear speckles,Plasma membrane,Microtubules,Primary cilium

OverviewNCBI Gene

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

408 residues, UniProt reviewed canonical sequence.

>Q96Q45|TMEM237
     1  MRTDSGARLE EGHLRPPRAL PPVPSQDDIP LSRPKKKKPR TKNTPASASL EGLAQTAGRR
    61  PSEGNEPSTK ELKEHPEAPV QRRQKKTRLP LELETSSTQK KSSSSSLLRN ENGIDAEPAE
   121  EAVIQKPRRK TKKTQPAELQ YANELGVEDE DIITDEQTTV EQQSVFTAPT GISQPVGKVF
   181  VEKSRRFQAA DRSELIKTTE NIDVSMDVKP SWTTRDVALT VHRAFRMIGL FSHGFLAGCA
   241  VWNIVVIYVL AGDQLSNLSN LLQQYKTLAY PFQSLLYLLL ALSTISAFDR IDFAKISVAI
   301  RNFLALDPTA LASFLYFTAL ILSLSQQMTS DRIHLYTPSS VNGSLWEAGI EEQILQPWIV
   361  VNLVVALLVG LSWLFLSYRP GMDLSEELMF SSEVEEYPDK EKEIKASS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM237 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): 0.53
Highest tissue expression: 72 nTPM

Expression across tissuesHPA

Tissue

retina: 72 nTPM
blood vessel: 7.4 nTPM
breast: 6.8 nTPM
skin: 6.7 nTPM
tongue: 5.7 nTPM
ovary: 5.2 nTPM

Single-cell type

rod photoreceptor cells: 182 nCPM
breast myoepithelial cells: 103 nCPM
basal keratinocytes: 78 nCPM
esophageal basal cells: 65 nCPM
basal prostatic cells: 62 nCPM
epididymal basal cells: 61 nCPM

Immune cell

naive CD4 T-cell: 0.4 nTPM
NK-cell: 0.4 nTPM
MAIT T-cell: 0.3 nTPM
memory CD8 T-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM
gdT-cell: 0.2 nTPM

Brain region

cerebellum: 7.7 nTPM
spinal cord: 7.5 nTPM
hypothalamus: 7.4 nTPM
medulla oblongata: 7.4 nTPM
thalamus: 7.3 nTPM
midbrain: 7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM237.

Disease | AllUniProt

Conditions TMEM237 is implicated in, by any mechanism.

Joubert syndrome 14 (JBTS14) MIM:614424

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 535 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): 1.25
gnomAD pLI: 0
gnomAD missense Z: 0.09
DepMap mean gene effect: 0.05
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Transmembrane protein 237
Transmembrane protein 237

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM237 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

TMEM107

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM237 as an antibody target. Whether an autoantibody or antibody against TMEM237 could matter depends on whether native TMEM237 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM237 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 TMEM237 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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