SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease BEFREE In our study, we performed exome sequencing in two and Sanger sequencing of SF3B4 in further ten previously unreported patients with the clinical diagnosis of Nager syndrome, including one familial case. 23568615 2013
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE Whole gene deletions of SF3B4 have also been suggested to be the cause of Nager syndrome in SF3B4 point mutation negative patients. 26679067 2016
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease BEFREE These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. 22541558 2012
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. 24003905 2014
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE In this work, we report a novel synonymous variant within exon 3 of the SF3B4 gene in a family with three members affected by Nager syndrome. 27966544 2017
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. 30924273 2019
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE This phenotype can be rescued by injection of wild-type human SF3B4 mRNA but not by mRNAs carrying mutations that cause Nager syndrome. 26874011 2016
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE A significant association with 1st-year height SD score increase during GH treatment was observed with rs11205277, located near 4 known genes: MTMR11, SV2A, HIST2H2AA3, and SF3B4; the latter, in which heterozygous mutations occur in Nager acrofacial dysostosis, appears the most relevant gene. 30970347 2019
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome. 23913624 2013
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. 27622494 2016
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE Since SF3B4 mutations have been recently associated with Nager syndrome, this suggests that at least some cases of Rodriguez syndrome are either allelic to or represent unusually severe manifestations of Nager syndrome. 24715698 2014
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease BEFREE Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. 25865758 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE SF3B4 as an early-stage diagnostic marker and driver of hepatocellular carcinoma. 29397868 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 AlteredExpression disease BEFREE Overexpression of SF3B4, that is due to DNA copy number increase, is suggested to play a role in progression of HCC. 27127115 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 AlteredExpression disease BEFREE It was found that many genes of spliceosome pathway such as HSPA1A, SNRPE, SF3B2, SF3B4 and TRA2A genes which we identified to be up-regulated in our meta-analysis were generally overexpressed in HCC. 25731616 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 AlteredExpression disease BEFREE The expression of SF3B4 was upregulated in HCC tissues and cell lines whereas, the expression of miRNA-133b was downregulated. 30391496 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE SF3B4 is regulated by microRNA-133b and promotes cell proliferation and metastasis in hepatocellular carcinoma. 30391496 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 AlteredExpression phenotype BEFREE High SF3B4 expression is significantly associated with intrahepatic metastasis and poor prognosis. 27127115 2016
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis 		0.020 GeneticVariation disease BEFREE We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies. 24715698 2014
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis 		0.020 GeneticVariation disease BEFREE Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 27622494 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. 25865758 2015
CUI: C0013393
Disease: Dysostoses
Dysostoses 		0.010 GeneticVariation disease BEFREE These data provide mechanistic insight toward understanding how SF3B4 mutations lead to the skeletal abnormalities observed in the acrofacial dysostoses. 27622494 2016
CUI: C0017536
Disease: Giardiasis
Giardiasis 		0.010 Biomarker disease BEFREE Finally, we studied spliceosomal protein complements and find protein sets in Giardia, Spironucleus and Trepomonas sp. 31375061 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Notably, we demonstrated that aberrant SF3B4 overexpression altered the progress of splicing progress of the tumor suppressor gene, kruppel like factor 4 (KLF4), and resulted in non-functional skipped exon transcripts. 29397868 2018
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease BEFREE Our results suggest that SF3B4 indicates early-stage HCC in precancerous lesions, and also functions as an early-stage driver in the development of liver cancer.[BMB Reports 2018; 51(2): 57-58]. 29397868 2018