EMC2

Chr 8

ER membrane protein complex subunit 2

Also known as: KIAA0103, TTC35

NCBI Gene: 9694 ENSG00000104412 UniProt: Q15006 OMIM: 607722

EMC2 encodes a component of the endoplasmic reticulum membrane protein complex (EMC) that facilitates the insertion of newly synthesized membrane proteins into ER membranes, particularly those with weakly hydrophobic transmembrane domains. Mutations cause a severe neurodevelopmental disorder with early infantile onset characterized by intellectual disability, developmental delay, seizures, and brain malformations. This condition follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.67

LOEUF

Mechanism· predicted