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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
YIPF5
Yip1 domain family member 5
Chromosome 5 Β· 5q31.3
NCBI Gene: 81555Ensembl: ENSG00000145817.18HGNC: HGNC:24877UniProt: Q969M3
64PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of ER to Golgi vesicle-mediated transportendoplasmic reticulumGolgi apparatusmicrocephaly, epilepsy, and diabetes syndrome 2microcephaly, epilepsy, and diabetes syndrome 1Abnormality of refractionneurodegenerative disease
✦AI Summary

YIPF5 (Yip1 domain family member 5) is a five-span transmembrane protein that plays a critical role in endoplasmic reticulum (ER) to Golgi vesicle-mediated transport 1. In pancreatic beta cells, YIPF5 is essential for transporting proinsulin from the ER to the Golgi apparatus, where it undergoes processing into mature insulin 2. YIPF5 localizes to the ER-Golgi intermediate compartment (ERGIC) and cis-Golgi, recycling between these compartments to maintain Golgi structure 1. Loss of YIPF5 function causes severe ER stress due to proinsulin retention in the ER, leading to beta cell dysfunction and apoptosis 2. Mutations in YIPF5 cause microcephaly, epilepsy, and diabetes syndrome 2 (MEDS2), a congenital disorder presenting with neonatal diabetes (diagnosed within 6 months), severe microcephaly, and seizures 2. YIPF5 is expressed during human brain development and in adult neurons, suggesting its trafficking function is critical for both pancreatic and neuronal cells 2. The pathophysiology involves ER stress-induced disruption of the unfolded protein response, impaired neuronal development, and reduced generation of apical progenitors in the developing cortex 3. YIPF5 represents the first identified gene disrupting ER-to-Golgi trafficking to cause diabetes, establishing a novel disease mechanism 2. Between 2018-2024, YIPF5 joined over 40 known NDM genes, demonstrating genetic heterogeneity in neonatal diabetes etiology 4.

Sources cited
1
YIPF5 is required for proinsulin transport from ER to Golgi in beta cells; mutations cause neonatal diabetes, microcephaly, and epilepsy through ER stress and proinsulin retention
PMID: 33164986
2
YIPF5 is a five-span transmembrane protein that localizes to ERGIC and cis-Golgi, recycles between ER and Golgi, and is involved in maintaining Golgi structure
PMID: 18718466
3
YIPF5 is one of six newly discovered NDM genes identified between 2018-2024, with NDM gene list now exceeding 40
PMID: 39344692
4
YIPF5 mutations cause primary microcephaly through ER stress and disruption of apical progenitor generation in the developing cortex
PMID: 37142085
5
YIPF5 resides in the Golgi apparatus and plays a critical role in vesicular trafficking; disruption induces ER stress and proinsulin accumulation
PMID: 33164987
6
YIPF5 is one of two known etiological genes for microcephaly, epilepsy, and diabetes syndrome, encoding a protein involved in ER to Golgi trafficking
PMID: 40924476
Disease Associationsβ“˜21
microcephaly, epilepsy, and diabetes syndrome 2Open Targets
0.65Moderate
microcephaly, epilepsy, and diabetes syndrome 1Open Targets
0.50Moderate
Abnormality of refractionOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.29Weak
hemolytic anemiaOpen Targets
0.20Weak
heart failureOpen Targets
0.19Weak
cardiomyopathyOpen Targets
0.18Weak
gastritisOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.15Weak
oral cavity carcinomaOpen Targets
0.15Weak
Kidney CystOpen Targets
0.14Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
diabetes mellitusOpen Targets
0.13Weak
skin diseaseOpen Targets
0.12Weak
cholelithiasisOpen Targets
0.12Weak
mental or behavioural disorderOpen Targets
0.12Weak
tricuspid valve diseaseOpen Targets
0.11Weak
respiratory tract infectious disorderOpen Targets
0.11Weak
major depressive disorderOpen Targets
0.11Weak
mood disorderOpen Targets
0.11Weak
Microcephaly, epilepsy, and diabetes syndrome 2UniProt
Pathogenic Variants5
NM_030799.9(YIPF5):c.542C>T (p.Ala181Val)Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
β˜†β˜†β˜†β˜†2021β†’ Residue 181
NM_030799.9(YIPF5):c.317_319del (p.Lys106del)Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
β˜†β˜†β˜†β˜†2021β†’ Residue 106
NM_030799.9(YIPF5):c.293T>G (p.Ile98Ser)Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
β˜†β˜†β˜†β˜†2021β†’ Residue 98
NM_030799.9(YIPF5):c.652T>A (p.Trp218Arg)Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
β˜†β˜†β˜†β˜†2021β†’ Residue 218
NM_030799.9(YIPF5):c.290G>T (p.Gly97Val)Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
β˜†β˜†β˜†β˜†2021β†’ Residue 97
View on ClinVar β†—
Related Genes
SEC24BProtein interaction94%YIF1BProtein interaction89%SAMM50Protein interaction79%YIPF3Protein interaction75%IER3IP1Protein interaction74%ERN1Protein interaction72%
Tissue Expression6 tissues
Heart
100%
Brain
95%
Bone Marrow
84%
Liver
68%
Lung
61%
Ovary
50%
Gene Interaction Network
Click a node to explore
YIPF5SEC24BYIF1BSAMM50YIPF3IER3IP1ERN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q969M3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.26 [0.15–0.46]
RankingsWhere YIPF5 stands among ~20K protein-coding genes
  • #7,335of 20,598
    Most Researched64
  • #3,562of 5,498
    Most Pathogenic Variants5
  • #2,638of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedYIPF5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neonatal diabetes mellitus around the world: Update 2024.
PMID: 39344692
J Diabetes Investig Β· 2024
1.00
2
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
PMID: 33164986
J Clin Invest Β· 2020
0.90
3
YIPF5 is an essential host factor for porcine epidemic diarrhea virus double-membrane vesicle formation.
PMID: 40422075
J Virol Β· 2025
0.80
4
YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding.
PMID: 33164987
J Clin Invest Β· 2020
0.70
5
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
PMID: 40924476
J Clin Invest Β· 2025
0.60