SBF2 SET binding factor 2
Gene ID: 81846, updated on 3-Apr-2024Gene type: protein coding
Also known as: CMT4B2; MTMR13; DENND7B
- See all available tests in GTR for this gene
- Go to complete Gene record for SBF2
- Go to Variation Viewer for SBF2 variants
Summary
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 4B2 | See labs |
| Genome-wide association study of smoking behaviours among Bangladeshi adults. GeneReviews: Not available | |
| Genome-wide association study of survival in patients with pancreatic adenocarcinoma. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.4
- Sequence:
- Chromosome: 11; NC_000011.10 (9778668..10303837, complement)
- Total number of exons:
- 46
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SBF2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IPN Mutations, SBF4
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SBF2 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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