ARPC1B Chromosome 7
Actin related protein 2/3 complex subunit 1B
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What This Gene Does
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"Actin related protein 2/3 complex subunits|WD repeat domain containing"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000130429
Associated Conditions (6)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
ARPC1B-related disorder
Inborn genetic diseases
Inherited Immunodeficiency Diseases
Combined immunodeficiency
Squamous cell carcinoma of the head and neck
Key Variants
RS144187782
Conflicting classifications of pathogenicity
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, ARPC1B-related disorder, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Health Risk
RS768768149
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1794559320
Likely pathogenic
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Health Risk
RS1794675671
Likely pathogenic
Health Risk
RS2150894118
Likely pathogenic
Health Risk
RS2484639268
Likely pathogenic
Health Risk
RS111297226
Pathogenic
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Health Risk
RS116204707
Pathogenic
Health Risk
RS1186149065
Pathogenic
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Health Risk
RS1256029497
Pathogenic
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Health Risk
RS1584409386
Pathogenic
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
Health Risk
RS1584410808
Pathogenic
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144187782 | Health Risk | Conflicting classifications of pathogenicity | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, ARPC1B-related disorder, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS768768149 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1794559320 | Health Risk | Likely pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1794675671 | Health Risk | Likely pathogenic | — |
| RS2150894118 | Health Risk | Likely pathogenic | — |
| RS2484639268 | Health Risk | Likely pathogenic | — |
| RS111297226 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS116204707 | Health Risk | Pathogenic | — |
| RS1186149065 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1256029497 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1584409386 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1584410808 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1794454006 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1794516424 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1794553748 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS2484628438 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS2484634669 | Health Risk | Pathogenic | — |
| RS2484635137 | Health Risk | Pathogenic | — |
| RS2484648574 | Health Risk | Pathogenic | — |
| RS371760619 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS760191638 | Health Risk | Pathogenic | Combined immunodeficiency, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Combined immunodeficiency |
| RS769800244 | Health Risk | Pathogenic | — |
| RS779597975 | Health Risk | Pathogenic | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Squamous cell carcinoma of the head and neck, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS1794611030 | Health Risk | Pathogenic/Likely pathogenic | ARPC1B-related disorder, ARPC1B-related disorder |