TMEM237

transmembrane protein 237

2 disorders 1 untyped 1 causative 2q33.1 gene with protein product

HGNC:14432 Monarch NCBI Gene 65062 ENSG00000155755 UniProt Q96Q45 OMIM 614423

Previous symbols: ALS2CR4. Aliases: JBTS14.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Meckel Syndrome	causative germline	mechanism: Basal body localization without proper ciliogenesis
Joubert syndrome	untyped Causative	mechanism: Ciliary transition zone gating defect

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Joubert syndrome 14 MONDO:0013745	AR	Definitive 2021-04-26	Joubert syndrome untyped

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Joubert syndrome, Meckel Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.