COPB2

Chr 3ARAD

coat protein complex I subunit beta 2

Also known as: MCPH19, OPDD, beta'-COP

NCBI Gene: 9276 ENSG00000184432 UniProt: P35606 OMIM: 606990

COPB2 encodes a subunit of the coatomer complex that mediates vesicular trafficking between the endoplasmic reticulum and Golgi apparatus and is essential for retrograde transport of proteins back to the ER. Mutations cause autosomal recessive primary microcephaly and childhood-onset osteoporosis with developmental delay, indicating critical roles in brain development and bone metabolism. The gene is highly constrained against loss-of-function variation (pLI 1.0, LOEUF 0.089), reflecting its essential cellular function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Microcephaly 19, primary, autosomal recessiveMIM #617800

Osteoporosis, childhood- or juvenile-onset, with developmental delayMIM #619884

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· G2P