SBF1 Chromosome 22
SET binding factor 1
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What This Gene Does
This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"DENN domain containing|Pleckstrin homology domain containing|Myotubularins"
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000100241
Associated Conditions (10)
SBF1-related disorder
Charcot-Marie-Tooth disease type 4B3
Tip-toe gait
Uterine corpus endometrial carcinoma
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Autism spectrum disorder
See cases
Charcot-Marie-Tooth disease type 4
Microcephaly
Key Variants
RS115010488
Conflicting classifications of pathogenicity
Health Risk
RS1233981025
Conflicting classifications of pathogenicity
Health Risk
RS1234122324
Conflicting classifications of pathogenicity
SBF1-related disorder, SBF1-related disorder
Health Risk
RS1285966014
Conflicting classifications of pathogenicity
Health Risk
RS1404020990
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
Health Risk
RS147869659
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B3, Tip-toe gait, Charcot-Marie-Tooth disease type 4B3
Health Risk
RS1603430221
Conflicting classifications of pathogenicity
Health Risk
RS182956712
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
Health Risk
RS185916020
Conflicting classifications of pathogenicity
Health Risk
RS188976869
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
Health Risk
RS191369963
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B3, Uterine corpus endometrial carcinoma, Charcot-Marie-Tooth disease type 4B3
Health Risk
RS199705951
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder, Charcot-Marie-Tooth disease type 4B3
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781476014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS966338815 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057519117 | Health Risk | Likely pathogenic | — |
| RS1333307427 | Health Risk | Likely pathogenic | — |
| RS144773853 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B3 |
| RS1556436855 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS1569513495 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS200624784 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS2148549478 | Health Risk | Likely pathogenic | — |
| RS2148587700 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2521824422 | Health Risk | Likely pathogenic | — |
| RS2521930871 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS2521943497 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS2522010204 | Health Risk | Likely pathogenic | SBF1-related disorder, SBF1-related disorder |
| RS1182146385 | Health Risk | Pathogenic | — |
| RS1556416876 | Health Risk | Pathogenic | — |
| RS1556425186 | Health Risk | Pathogenic | — |
| RS1556436706 | Health Risk | Pathogenic | — |
| RS2067440192 | Health Risk | Pathogenic | — |
| RS2148585556 | Health Risk | Pathogenic | — |
| RS2148590692 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS2521824187 | Health Risk | Pathogenic | — |
| RS2521836891 | Health Risk | Pathogenic | — |
| RS2521911503 | Health Risk | Pathogenic | — |
| RS2521916625 | Health Risk | Pathogenic | — |
| RS369497718 | Health Risk | Pathogenic | — |
| RS771002611 | Health Risk | Pathogenic | — |
| RS1009209509 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS1569512576 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS587776986 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4B3, Microcephaly, Charcot-Marie-Tooth disease type 4B3 |