SF3B4 (splicing factor 3b subunit 4)

2007-02-01  

Identity

HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
AFD1,Hsh49,SAP49,SF3b49

Other Information

Locus ID:

NCBI: 10262
MIM: 605593
HGNC: 10771
Ensembl: ENSG00000143368

Variants:

dbSNP: 10262
ClinVar: 10262
TCGA: ENSG00000143368
COSMIC: SF3B4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143368ENST00000271628Q15427
ENSG00000143368ENST00000457312Q5SZ64

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, U2-snRNPKEGGM00352
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127388652003Molecular architecture of the multiprotein splicing factor SF3b.74
225415582012Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.47
235686152013Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.17
240039052014Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.15
175132952007Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation.13
257316162015Meta-analysis of gene expression profiles indicates genes in spliceosome pathway are up-regulated in hepatocellular carcinoma (HCC).12
276224942016Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.10
153517062004Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor.9
224157772012Proteomic and protein interaction network analysis of human T lymphocytes during cell-cycle entry.8
293978682018SF3B4 as an early-stage diagnostic marker and driver of hepatocellular carcinoma.6

Citation

Dessen P

SF3B4 (splicing factor 3b subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43881/sf3b4-(splicing-factor-3b-subunit-4)