YIPF5 Chromosome 5
Yip1 domain family member 5
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What This Gene Does
Involved in insulin processing and regulation of ER to Golgi vesicle-mediated transport. Located in Golgi apparatus; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Yip1 domain containing
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000145817
Associated Conditions (3)
Microcephaly
epilepsy
and diabetes syndrome 2
Key Variants
RS1752071425
Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
Health Risk
RS1752133411
Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
Health Risk
RS2126755244
Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
Health Risk
RS2126759135
Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
Health Risk
RS778505668
Pathogenic
Microcephaly, epilepsy, and diabetes syndrome 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1752071425 | Health Risk | Pathogenic | Microcephaly, epilepsy, and diabetes syndrome 2 |
| RS1752133411 | Health Risk | Pathogenic | Microcephaly, epilepsy, and diabetes syndrome 2 |
| RS2126755244 | Health Risk | Pathogenic | Microcephaly, epilepsy, and diabetes syndrome 2 |
| RS2126759135 | Health Risk | Pathogenic | Microcephaly, epilepsy, and diabetes syndrome 2 |
| RS778505668 | Health Risk | Pathogenic | Microcephaly, epilepsy, and diabetes syndrome 2 |