Browse All / Genes / TMEM67

TMEM67

transmembrane protein 67
4 disorders 3 causative 1 untyped 8q22.1 gene with protein product
HGNC:28396MonarchNCBI Gene 91147ENSG00000164953UniProt Q5HYA8OMIM 609884

Previous symbols: MKS3. Aliases: MGC26979, JBTS6, NPHP11.

Normal function · from ai-gene-review (Q5HYA8, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

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.

DisorderRelationshipWhere the gene appears
Meckel Syndrome causative germline
mechanism: Primary cilium membrane protein dysfunction (TMEM67/meckelin)
subtype: Meckel syndrome, type 3
Nephronophthisis causative
mechanism: Ciliary Dysfunction
subtype: TMEM67-related
scoped to subtype: TMEM67-related
RHYNS Syndrome causative germline partial loss of function
mechanism: Biallelic Loss of Meckelin Function
Joubert syndrome untyped
Causative
mechanism: Biliary ductal plate malformation via ciliary tight junction defect; Ciliary transition zone gating defect; Pathogenic JBTS gene defects
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 diseaseMOIClassificationdismech entry
ciliopathy MONDO:0005308 AR Definitive
2021-07-14
 no dismech entry
Mechanism modules · computed from kb/

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