Gene: SF3B4

Alternate names for this Gene: AFD1|Hsh49|SAP49|SF3b49

Gene Summary: This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.2

Description of this Gene: splicing factor 3b subunit 4

Type of Gene: protein-coding

rs387907186 in SF3B4 gene and Dysmorphic features PMID 24715698 2014 Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

PMID 24003905 2014 Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

PMID 23568615 2013 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

PMID 27642715 2016 Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 18000904 2007 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

rs387907186 in SF3B4 gene and Multiple congenital anomalies PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 24715698 2014 Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

PMID 24003905 2014 Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

PMID 23568615 2013 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

PMID 27642715 2016 Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

PMID 18000904 2007 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

rs387907185 in SF3B4 gene and Nager syndrome PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.