COPB2 Chromosome 3
Coat protein complex I subunit beta 2
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What This Gene Does
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]
Gene Info
Gene Group
"WD repeat domain containing|Coat protein complex I"
Locus Type
gene with protein product
Location
3q23
Ensembl
ENSG00000184432
Associated Conditions (7)
Inborn genetic diseases
Osteoporosis
childhood- or juvenile-onset
with developmental delay
Microcephaly 19
primary
autosomal recessive
Key Variants
RS138135248
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143708326
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148644997
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199603762
Conflicting classifications of pathogenicity
Health Risk
RS759267155
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2472899515
Likely pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
Health Risk
RS1229568621
Pathogenic
Microcephaly 19, primary, autosomal recessive
Health Risk
RS2107801858
Pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
Health Risk
RS2107807701
Pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138135248 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143708326 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148644997 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199603762 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759267155 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2472899515 | Health Risk | Likely pathogenic | Osteoporosis, childhood- or juvenile-onset, with developmental delay |
| RS1229568621 | Health Risk | Pathogenic | Microcephaly 19, primary, autosomal recessive |
| RS2107801858 | Health Risk | Pathogenic | Osteoporosis, childhood- or juvenile-onset, with developmental delay |
| RS2107807701 | Health Risk | Pathogenic | Osteoporosis, childhood- or juvenile-onset, with developmental delay |