SCAF4 (SR-related CTD associated factor 4)

2014-11-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
SFRS15,SRA4
FUSION GENES

Other Information

Locus ID:

NCBI: 57466
MIM: 616023
HGNC: 19304
Ensembl: ENSG00000156304

Variants:

dbSNP: 57466
ClinVar: 57466
TCGA: ENSG00000156304
COSMIC: SCAF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156304ENST00000286835O95104
ENSG00000156304ENST00000399804O95104
ENSG00000156304ENST00000434667O95104

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
373943062024SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders.1
378910352024SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.0
373943062024SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders.1
378910352024SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.0
348976892022Structural basis for the recognition of the S2, S5-phosphorylated RNA polymerase II CTD by the mRNA anti-terminator protein hSCAF4.2
348976892022Structural basis for the recognition of the S2, S5-phosphorylated RNA polymerase II CTD by the mRNA anti-terminator protein hSCAF4.2
327308042020Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.6
327308042020Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.6
311048392019SCAF4 and SCAF8, mRNA Anti-Terminator Proteins.57
311048392019SCAF4 and SCAF8, mRNA Anti-Terminator Proteins.57
248211552014Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy.8
248211552014Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy.8
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

SCAF4 (SR-related CTD associated factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72995/scaf4-(sr-related-ctd-associated-factor-4)