YIPF5

Chr 5AR

Yip1 domain family member 5

Also known as: FinGER5, MEDS2, SB140, SMAP-5, SMAP5, YIP1A, YIPFalpha1A

NCBI Gene: 81555 ENSG00000145817 UniProt: Q969M3 OMIM: 611483

YIPF5 encodes a protein required for transport of proinsulin from the endoplasmic reticulum to the Golgi apparatus in pancreatic beta cells and plays a role in ER-to-Golgi transport more broadly. Biallelic mutations cause microcephaly, epilepsy, and diabetes syndrome 2 with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Involved in insulin processing and regulation of ER to Golgi vesicle-mediated transport. Located in Golgi apparatus and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microcephaly, epilepsy, and diabetes syndrome 2MIM #619278

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

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Mechanism