Gene: SRCAP
Alternate names for this Gene: DOMO1|EAF1|FLHS|SWR1
Gene Summary: 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.
Gene is located in Chromosome: 16
Location in Chromosome : 16p11.2
Description of this Gene: Snf2 related CREBBP activator protein
Type of Gene: protein-coding
rs1555465942 in
SRCAP gene and
Dysmorphic features
PMID 23621943 2013 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
PMID 23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.
PMID 23763483 2014 Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.
PMID 22965468 2013 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
PMID 26788936 2016 Stippled calcification in an infant with a recurrent SRCAP gene mutation.
PMID 24970356 2014 Whole exome sequencing to identify genetic causes of short stature.
PMID 25433523 2014 Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
PMID 22265015 2012 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
rs8058578 in
SRCAP gene and
Multiple Myeloma
PMID 27363682 2016 Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
rs1555465942 in
SRCAP gene and
Multiple congenital anomalies
PMID 23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.
PMID 22965468 2013 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
PMID 22265015 2012 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
PMID 23621943 2013 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
PMID 26788936 2016 Stippled calcification in an infant with a recurrent SRCAP gene mutation.
PMID 25433523 2014 Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
PMID 23763483 2014 Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.
PMID 24970356 2014 Whole exome sequencing to identify genetic causes of short stature.