Gene: DERL3

Alternate names for this Gene: C22orf14|IZP6|LLN2|derlin-3

Gene Summary: The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23

Description of this Gene: derlin 3

Type of Gene: protein-coding

Gene: SMARCB1

Alternate names for this Gene: BAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS

Gene Summary: The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23|22q11

Description of this Gene: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Type of Gene: protein-coding

rs1057517825 in DERL3;SMARCB1 gene and Dysmorphic features PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

rs1057517825 in DERL3;SMARCB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 26364901 2015 Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

rs1057517825 in DERL3;SMARCB1 gene and Multiple congenital anomalies PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

rs1057517825 in DERL3;SMARCB1 gene and Muscle hypotonia PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.