NCKAP1 Chromosome 2
NCK associated protein 1
Upload your DNA to see your personal genotypes for variants in NCKAP1.
What This Gene Does
Contributes to small GTPase binding activity. Involved in Rac protein signal transduction; positive regulation of Arp2/3 complex-mediated actin nucleation; and positive regulation of lamellipodium assembly. Located in extracellular exosome and focal adhesion. Part of SCAR complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
SCAR/WAVE complex
Locus Type
gene with protein product
Location
2q32.1
Ensembl
ENSG00000061676
Associated Conditions (7)
Global developmental delay
NCKAP1-associated Neurodevelopmental disorder
Immunodeficiency 72 with autoinflammation
Inborn genetic diseases
Intellectual disability
Autistic behavior
Neurodevelopmental abnormality
Key Variants
RS2105823042
Likely pathogenic
Health Risk
RS2105823081
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2105868996
Likely pathogenic
NCKAP1-associated Neurodevelopmental disorder, NCKAP1-associated Neurodevelopmental disorder
Health Risk
RS2468533857
Likely pathogenic
Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
Health Risk
RS2468538145
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2468666450
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2468723111
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1696658542
Pathogenic
Autistic behavior, Autistic behavior
Health Risk
RS2468604532
Pathogenic
Neurodevelopmental abnormality, Autistic behavior, Neurodevelopmental abnormality
Health Risk
RS538891750
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105823042 | Health Risk | Likely pathogenic | — |
| RS2105823081 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2105868996 | Health Risk | Likely pathogenic | NCKAP1-associated Neurodevelopmental disorder, NCKAP1-associated Neurodevelopmental disorder |
| RS2468533857 | Health Risk | Likely pathogenic | Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation |
| RS2468538145 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2468666450 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2468723111 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1696658542 | Health Risk | Pathogenic | Autistic behavior, Autistic behavior |
| RS2468604532 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Autistic behavior, Neurodevelopmental abnormality |
| RS538891750 | Health Risk | Pathogenic | — |