SBF2

Also known as CMT4B2, DENND7B, MTMR13, SET binding factor 2

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.

In the Vinony graph

Vinony's link graph records 8 inbound references to SBF2, and connects out to PubMed, human chromosome 11 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 11.

Vinony links it to 6 Wikipedia language editions.

Gene data

SBF2

Name: SET binding factor 2
Type: protein-coding
Position: 9,776,776–10,304,877 (−)
Aliases: CMT4B2, DENND7B, MTMR13
Ensembl: ENSG00000133812
RefSeq RNA: NM_001386339.1, NM_001386342.1, NM_001424318.1, NM_001425069.1, NM_001425070.1
RefSeq protein: NP_001373268.1, NP_001373271.1, NP_001411247.1, NP_001411998.1, NP_001411999.1

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].

Gene Ontology

Biological process

myelination

Molecular function

guanyl-nucleotide exchange factor activity guanyl-nucleotide exchange factor activity guanyl-nucleotide exchange factor activity guanyl-nucleotide exchange factor activity protein binding phosphatase regulator activity phosphatase binding phosphatidylinositol binding

Cellular component

cytoplasm cytoplasm cytoplasm vacuolar membrane cytosol endosome membrane endosome membrane membrane

Pathways

Metabolism PI Metabolism Phospholipid metabolism Synthesis of PIPs at the plasma membrane Membrane Trafficking Metabolism of lipids Vesicle-mediated transport RAB GEFs exchange GTP for GDP on RABs Rab regulation of trafficking Intracellular trafficking proteins involved in CMT neuropathy

via MyGene.info

Gene · Ensembl

SET binding factor 2

Symbol: SBF2
Biotype: Protein coding
Organism: Homo sapiens
Location: 11:9,776,776-10,304,877
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 41810
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/81846
genomic end: 10304877
genomic start: 9776776
chromosome: human chromosome 11
cytogenetic location: 11p15.4

Sources (6)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

References
Further reading
External links

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.

The family of myotubularin-related proteins includes lipid phosphatases, such as MTM1 (MIM 600415), and pseudophosphatases, such as SBF1 (MIM 603560) and SBF2. Pseudophosphatases contain inactivating substitutions at the catalytic cysteine [supplied by OMIM].

Excerpted from Wikipedia’s “SBF2” article, available under the CC BY-SA 4.0 licence.