SBF2

SBF2
Identifiers
Aliases	SBF2, CMT4B2, DENND7B, MTMR13, SET binding factor 2
External IDs	OMIM: 607697; MGI: 1921831; HomoloGene: 41810; GeneCards: SBF2; OMA:SBF2 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	10,304,877 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	110,214,129 bp
RNA expression pattern
	Top expressed in
	pancreatic epithelial cell; ; epithelium of colon; ; Achilles tendon; ; sural nerve; ; germinal epithelium; ; ventricular zone; ; seminal vesicula; ; gastric mucosa; ; pancreatic ductal cell; ; subcutaneous adipose tissue;
	Top expressed in
	Paneth cell; ; sciatic nerve; ; renal corpuscle; ; right ventricle; ; fossa; ; medullary collecting duct; ; Ileal epithelium; ; condyle; ; substantia nigra; ; ciliary body;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphatase binding; phosphatase regulator activity; protein binding; phosphatidylinositol binding; protein homodimerization activity; guanyl-nucleotide exchange factor activity;
Cellular component	cytoplasm; membrane; vacuolar membrane; cytosol; endosome; endosome membrane; axon; cell projection; perinuclear region of cytoplasm;
Biological process	regulation of GTPase activity; myelination; protein tetramerization; autophagy;
	Sources:Amigo / QuickGO
Orthologs
	81846
	319934
	ENSG00000133812
	ENSMUSG00000038371
	Q86WG5
	E9PXF8
	NM_030962; NM_001386339; NM_001386342
	NM_177324; NM_178769
	NP_112224
	NP_796298; NP_001391316; NP_001391317; NP_001391318
	Wikidata
View/Edit Human	View/Edit Mouse

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.^[5]^[6]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000133812 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038371 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM (Mar 2000). "Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15". Genomics. 62 (3): 344–9. doi:10.1006/geno.1999.6028. PMID 10644431.
^ "Entrez Gene: SBF2 SET binding factor 2".

External links

GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4

Template:PBB Controls

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000133812 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038371 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10644431-5] Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM (Mar 2000). "Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15". Genomics. 62 (3): 344–9. doi:10.1006/geno.1999.6028. PMID 10644431.

[entrez-6] "Entrez Gene: SBF2 SET binding factor 2".

[1]

[2]

[3]

[4]

[5]

[6]

References

Further reading

External links