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 |
|---|---|---|---|
| RS115010488 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1233981025 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1234122324 | Health Risk | Conflicting classifications of pathogenicity | SBF1-related disorder, SBF1-related disorder |
| RS1285966014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1404020990 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS147869659 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Tip-toe gait, Charcot-Marie-Tooth disease type 4B3 |
| RS1603430221 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182956712 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS185916020 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188976869 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS191369963 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Uterine corpus endometrial carcinoma, Charcot-Marie-Tooth disease type 4B3 |
| RS199705951 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder, Charcot-Marie-Tooth disease type 4B3 |
| RS199783239 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS199972466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200180227 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200488568 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Tip-toe gait, Charcot-Marie-Tooth disease type 4B3 |
| RS200718883 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder, Charcot-Marie-Tooth disease type 4B3 |
| RS201061231 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201200122 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Tip-toe gait, SBF1-related disorder |
| RS201399007 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease X-linked dominant 1, SBF1-related disorder |
| RS201645895 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202049257 | Health Risk | Conflicting classifications of pathogenicity | Tip-toe gait, Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder |
| RS202055128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202149945 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS202156491 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, SBF1-related disorder, Charcot-Marie-Tooth disease type 4B3 |
| RS2148590809 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2521902337 | Health Risk | Conflicting classifications of pathogenicity | SBF1-related disorder, SBF1-related disorder |
| RS368512512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370463792 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS371569398 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372950672 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374026247 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374190021 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374299843 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377428323 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS377462059 | Health Risk | Conflicting classifications of pathogenicity | SBF1-related disorder, SBF1-related disorder |
| RS530337132 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS560106517 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS690016543 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B3 |
| RS749208355 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754332334 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3 |
| RS757816344 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760339634 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762959504 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763695196 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765101409 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771066494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776024454 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776621303 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779676706 | Health Risk | Conflicting classifications of pathogenicity | — |