SF3B4 Chromosome 1
Splicing factor 3b subunit 4
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"RNA binding motif containing|SF3b complex"
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000143368
Associated Conditions (4)
Nager syndrome
Inborn genetic diseases
SF3B4-related disorder
Hereditary hearing loss and deafness
Key Variants
RS782357237
Conflicting classifications of pathogenicity
Nager syndrome, Nager syndrome
Health Risk
RS782461594
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2092587749
Likely pathogenic
Health Risk
RS2101642546
Likely pathogenic
Health Risk
RS2525112539
Likely pathogenic
SF3B4-related disorder, SF3B4-related disorder
Health Risk
RS2525122328
Likely pathogenic
Health Risk
RS797044869
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553765608
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2092569095
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2092586827
Pathogenic
Health Risk
RS2092591029
Pathogenic
Health Risk
RS2092591227
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782357237 | Health Risk | Conflicting classifications of pathogenicity | Nager syndrome, Nager syndrome |
| RS782461594 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS2092587749 | Health Risk | Likely pathogenic | — |
| RS2101642546 | Health Risk | Likely pathogenic | — |
| RS2525112539 | Health Risk | Likely pathogenic | SF3B4-related disorder, SF3B4-related disorder |
| RS2525122328 | Health Risk | Likely pathogenic | — |
| RS797044869 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553765608 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2092569095 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2092586827 | Health Risk | Pathogenic | — |
| RS2092591029 | Health Risk | Pathogenic | — |
| RS2092591227 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2101646017 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS2101647663 | Health Risk | Pathogenic | — |
| RS2101647799 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS2101648820 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS2525123241 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS2525125637 | Health Risk | Pathogenic | — |
| RS387907185 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS387907186 | Health Risk | Pathogenic | Nager syndrome, Inborn genetic diseases, Nager syndrome |
| RS397515324 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045121 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045122 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045123 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045124 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045125 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045126 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045127 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045128 | Health Risk | Pathogenic | Nager syndrome, Hereditary hearing loss and deafness, Nager syndrome |
| RS797045129 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045130 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045131 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045132 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045133 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045134 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045954 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045955 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045956 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS797045957 | Health Risk | Pathogenic | Nager syndrome, Nager syndrome |
| RS886041532 | Health Risk | Pathogenic | — |