SRCAP Chromosome 16
Snf2 related CREBBP activator protein
Upload your DNA to see your personal genotypes for variants in SRCAP.
What This Gene Does
This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"SNF2 related family|SRCAP complex subunits|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000080603
Associated Conditions (16)
Autism spectrum disorder
Developmental delay
hypotonia
musculoskeletal defects
and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases
SRCAP-related disorder
Neurodevelopmental disorder
Intellectual disability
Multiple congenital anomalies/dysmorphic syndrome
Moderate intellectual disability
Rare genetic intellectual disability
See cases
Neurodevelopmental delay
Monogenic short statue
Key Variants
RS1016999544
Conflicting classifications of pathogenicity
Health Risk
RS1131691316
Conflicting classifications of pathogenicity
Health Risk
RS1170509653
Conflicting classifications of pathogenicity
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1246765240
Conflicting classifications of pathogenicity
Developmental delay, hypotonia, musculoskeletal defects
Health Risk
RS1276291921
Conflicting classifications of pathogenicity
Health Risk
RS1327297904
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1339584247
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1356891310
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental delay, hypotonia
Health Risk
RS138111804
Conflicting classifications of pathogenicity
Developmental delay, hypotonia, musculoskeletal defects
Health Risk
RS138152469
Conflicting classifications of pathogenicity
SRCAP-related disorder, SRCAP-related disorder
Health Risk
RS139052774
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139524110
Conflicting classifications of pathogenicity
Developmental delay, hypotonia, musculoskeletal defects
Health Risk
All Variants (204)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2474004099 | Health Risk | Likely pathogenic | Rare genetic intellectual disability, Rare genetic intellectual disability |
| RS2506624513 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, musculoskeletal defects |
| RS2506635538 | Health Risk | Likely pathogenic | — |
| RS2506665187 | Health Risk | Likely pathogenic | — |
| RS2506669408 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, musculoskeletal defects |
| RS2506677149 | Health Risk | Likely pathogenic | SRCAP-related disorder, SRCAP-related disorder |
| RS2506726338 | Health Risk | Likely pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS2506726518 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2506727018 | Health Risk | Likely pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS2506728534 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, musculoskeletal defects |
| RS2506729448 | Health Risk | Likely pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS755307689 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS926127838 | Health Risk | Likely pathogenic | — |
| RS1085307899 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS1555465917 | Health Risk | Pathogenic | — |
| RS1555465928 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS1555465966 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1596667741 | Health Risk | Pathogenic | — |
| RS1596669232 | Health Risk | Pathogenic | — |
| RS199469464 | Health Risk | Pathogenic | Floating-Harbor syndrome, Inborn genetic diseases, See cases |
| RS199469466 | Health Risk | Pathogenic | Floating-Harbor syndrome, Inborn genetic diseases, Floating-Harbor syndrome |
| RS2052800289 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2053142075 | Health Risk | Pathogenic | — |
| RS2053169420 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS2053169650 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS2151299633 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2151300039 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS2151300055 | Health Risk | Pathogenic | — |
| RS2151300137 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS2151300144 | Health Risk | Pathogenic | — |
| RS2151300418 | Health Risk | Pathogenic | Floating-Harbor syndrome, Developmental delay, hypotonia |
| RS2506610770 | Health Risk | Pathogenic | — |
| RS2506627905 | Health Risk | Pathogenic | Floating-Harbor syndrome, Developmental delay, hypotonia |
| RS2506628039 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2506697045 | Health Risk | Pathogenic | — |
| RS2506697053 | Health Risk | Pathogenic | Developmental delay, hypotonia, musculoskeletal defects |
| RS2506726269 | Health Risk | Pathogenic | Floating-Harbor syndrome, Inborn genetic diseases, Floating-Harbor syndrome |
| RS2506726285 | Health Risk | Pathogenic | — |
| RS2506726491 | Health Risk | Pathogenic | — |
| RS2506726581 | Health Risk | Pathogenic | — |
| RS2506727078 | Health Risk | Pathogenic | — |
| RS2506727189 | Health Risk | Pathogenic | — |
| RS2506731130 | Health Risk | Pathogenic | — |
| RS587776938 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS587777656 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS758972811 | Health Risk | Pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS886041787 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1555465891 | Health Risk | Pathogenic/Likely pathogenic | Floating-Harbor syndrome, Floating-Harbor syndrome |
| RS1555465942 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Floating-Harbor syndrome, Inborn genetic diseases |
| RS199469465 | Health Risk | Pathogenic/Likely pathogenic | Floating-Harbor syndrome, Inborn genetic diseases, Floating-Harbor syndrome |