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Aliases for SBF2 Gene

Aliases for SBF2 Gene

  • SET Binding Factor 2 2 3
  • CMT4B2 3 4 6
  • MTMR13 3 4 6
  • DENN/MADD Domain Containing 7B 2 3
  • Charcot-Marie-Tooth Neuropathy 4B2 (Autosomal Recessive, With Myelin Outfolding) 2
  • Myotubularin-Related Protein 13 3
  • Myotubularin Related 13 2
  • SET-Binding Factor 2 4
  • KIAA1766 4
  • DENND7B 3

External Ids for SBF2 Gene

Previous Symbols for SBF2 Gene

  • CMT4B2

Summaries for SBF2 Gene

Entrez Gene Summary for SBF2 Gene

  • 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]

GeneCards Summary for SBF2 Gene

SBF2 (SET Binding Factor 2) is a Protein Coding gene. Diseases associated with SBF2 include charcot-marie-tooth disease, type 4b2 and charcot-marie-tooth neuropathy type 4b2. GO annotations related to this gene include protein homodimerization activity and phosphatase binding. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot for SBF2 Gene

  • Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Gene Wiki entry for SBF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBF2 Gene

Genomics for SBF2 Gene

Genomic Location for SBF2 Gene

Start:
9,778,667 bp from pter
End:
10,294,207 bp from pter
Size:
515,541 bases
Orientation:
Minus strand

Genomic View for SBF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SBF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBF2 Gene

Proteins for SBF2 Gene

  • Protein details for SBF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WG5-MTMRD_HUMAN
    Recommended name:
    Myotubularin-related protein 13
    Protein Accession:
    Q86WG5
    Secondary Accessions:
    • Q3MJF0
    • Q68DQ3
    • Q6P459
    • Q6PJD1
    • Q7Z325
    • Q7Z621
    • Q86VE2
    • Q96FE2
    • Q9C097

    Protein attributes for SBF2 Gene

    Size:
    1849 amino acids
    Molecular mass:
    208464 Da
    Quaternary structure:
    • Interacts with MTMR2.

    Alternative splice isoforms for SBF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SBF2 Gene

Proteomics data for SBF2 Gene at MOPED

Post-translational modifications for SBF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SBF2 Gene

No data available for DME Specific Peptides for SBF2 Gene

Domains for SBF2 Gene

Gene Families for SBF2 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • DENND :DENN/MADD domain containing
  • DUSPM :Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

Suggested Antigen Peptide Sequences for SBF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86WG5

UniProtKB/Swiss-Prot:

MTMRD_HUMAN
Domain:
  • Contains 1 dDENN domain.:
    • Q86WG5
  • Contains 1 DENN domain.:
    • Q86WG5
  • Contains 1 GRAM domain.:
    • Q86WG5
  • Contains 1 myotubularin phosphatase domain.:
    • Q86WG5
  • Contains 1 PH domain.:
    • Q86WG5
  • Contains 1 uDENN domain.:
    • Q86WG5
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.:
    • Q86WG5
genes like me logo Genes that share domains with SBF2: view

Function for SBF2 Gene

Molecular function for SBF2 Gene

UniProtKB/Swiss-Prot Function: Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Gene Ontology (GO) - Molecular Function for SBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15998640
GO:0016791 phosphatase activity --
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
GO:0019208 phosphatase regulator activity IEA --
GO:0019902 phosphatase binding IEA --
genes like me logo Genes that share ontologies with SBF2: view
genes like me logo Genes that share phenotypes with SBF2: view

miRNA for SBF2 Gene

miRTarBase miRNAs that target SBF2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SBF2 Gene

Localization for SBF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBF2 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Associated with membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SBF2 Gene COMPARTMENTS Subcellular localization image for SBF2 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for SBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005774 vacuolar membrane IEA --
GO:0016020 membrane IDA 15998640
genes like me logo Genes that share ontologies with SBF2: view

Pathways for SBF2 Gene

SuperPathways for SBF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0016311 dephosphorylation --
GO:0042552 myelination NAS 15998640
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051262 protein tetramerization IEA --
genes like me logo Genes that share ontologies with SBF2: view

No data available for Pathways by source for SBF2 Gene

Transcripts for SBF2 Gene

Unigene Clusters for SBF2 Gene

SET binding factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SBF2 Gene

No ASD Table

Relevant External Links for SBF2 Gene

GeneLoc Exon Structure for
SBF2
ECgene alternative splicing isoforms for
SBF2

Expression for SBF2 Gene

mRNA expression in normal human tissues for SBF2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SBF2 Gene

SOURCE GeneReport for Unigene cluster for SBF2 Gene Hs.577252

mRNA Expression by UniProt/SwissProt for SBF2 Gene

Q86WG5-MTMRD_HUMAN
Tissue specificity: Widely expressed. Expressed in spinal cord.
genes like me logo Genes that share expressions with SBF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SBF2 Gene

Orthologs for SBF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SBF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SBF2 35
  • 97.82 (n)
  • 97.09 (a)
cow
(Bos Taurus)
Mammalia SBF2 35
  • 91.74 (n)
  • 95.19 (a)
SBF2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SBF2 35
  • 92.81 (n)
  • 95.89 (a)
SBF2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sbf2 35
  • 88.97 (n)
  • 94.04 (a)
Sbf2 16
Sbf2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SBF2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1559442 35
  • 88.93 (n)
  • 93.84 (a)
chicken
(Gallus gallus)
Aves SBF2 35
  • 78.9 (n)
  • 86.17 (a)
SBF2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SBF2 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8649 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sbf2 35
  • 71.99 (n)
  • 82.47 (a)
Str.20171 35
zebrafish
(Danio rerio)
Actinopterygii sbf2 35
  • 68.94 (n)
  • 74.26 (a)
sbf2 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003366 35
  • 50.91 (n)
  • 47.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sbf 35
  • 52.1 (n)
  • 46.19 (a)
Sbf 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtm-5 35
  • 42.85 (n)
  • 31.23 (a)
mtm-5 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3355 36
  • 37 (a)
OneToMany
Species with no ortholog for SBF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SBF2 Gene

ENSEMBL:
Gene Tree for SBF2 (if available)
TreeFam:
Gene Tree for SBF2 (if available)

Paralogs for SBF2 Gene

Selected SIMAP similar genes for SBF2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SBF2: view

Variants for SBF2 Gene

Sequence variations from dbSNP and Humsavar for SBF2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs360118 -- 9,824,731(-) AACCT(C/G)ATCTT intron-variant
rs360119 -- 9,822,713(+) CTAAG(C/T)ACTGG intron-variant
rs426403 -- 9,835,833(-) ctccc(A/C)cagtg intron-variant
rs434035 -- 9,814,829(+) ATTGA(A/G)ACACT intron-variant
rs434213 -- 9,835,674(-) catcc(A/C)cattg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SBF2 Gene

Variant ID Type Subtype PubMed ID
esv2744095 CNV Deletion 23290073
nsv896987 CNV Gain 21882294
nsv896988 CNV Loss 21882294
nsv471749 CNV Loss 16327809
nsv521169 CNV Loss 19592680
esv2632556 CNV Deletion 19546169
esv2087227 CNV Deletion 18987734
esv2665897 CNV Deletion 23128226
esv22125 CNV Loss 19812545
nsv517092 CNV Loss 19592680
nsv519992 CNV Loss 19592680
nsv510239 CNV Loss 20534489
nsv896989 CNV Loss 21882294
nsv7674 CNV Insertion 18451855
nsv825763 CNV Loss 20364138
esv2543425 CNV Deletion 19546169
nsv520415 CNV Loss 19592680
nsv483076 CNV Complex 15286789
esv2662075 CNV Deletion 23128226
nsv515552 CNV Loss 19592680
nsv510240 CNV Loss 20534489
nsv8788 CNV Loss 18304495
esv2666504 CNV Deletion 23128226
esv2744099 CNV Deletion 23290073
nsv825765 CNV Loss 20364138
nsv8789 CNV Gain+Loss 18304495
esv2663460 CNV Deletion 23128226
esv2459856 CNV Deletion 19546169
esv2386638 CNV Deletion 18987734
nsv512210 CNV Loss 21212237
esv2744100 CNV Deletion 23290073
esv3658 CNV Deletion 18987735
esv2668058 CNV Deletion 23128226
esv6401 CNV Loss 19470904

Relevant External Links for SBF2 Gene

HapMap Linkage Disequilibrium report
SBF2
Human Gene Mutation Database (HGMD)
SBF2
Locus Specific Mutation Databases (LSDB)
SBF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBF2 Gene

Disorders for SBF2 Gene

(1) OMIM Diseases for SBF2 Gene (607697)

UniProtKB/Swiss-Prot

MTMRD_HUMAN
  • Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269 PubMed:12554688, ECO:0000269 PubMed:12687498, ECO:0000269 PubMed:15304601, ECO:0000269 PubMed:15477569}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SBF2 Gene

(5) Novoseek inferred disease relationships for SBF2 Gene

Disease -log(P) Hits PubMed IDs
cmt4b 97.4 7
charcot-marie-tooth disease 89.2 7
centronuclear myopathy 83.9 1
demyelination 53.2 1
glaucoma 40.9 5

Relevant External Links for SBF2

GeneTests
SBF2
GeneReviews
SBF2
Genetic Association Database (GAD)
SBF2
Human Genome Epidemiology (HuGE) Navigator
SBF2
genes like me logo Genes that share disorders with SBF2: view

Publications for SBF2 Gene

  1. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. (PMID: 12554688) Senderek J. … Zerres K. (Hum. Mol. Genet. 2003) 3 4 23
  2. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. (PMID: 12687498) Azzedine H. … LeGuern E. (Am. J. Hum. Genet. 2003) 3 4 23
  3. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. (PMID: 15304601) Hirano R. … Arimura K. (Neurology 2004) 3 4 23
  4. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot- Marie-Tooth disease. (PMID: 15998640) Robinson F.L. … Dixon J.E. (J. Biol. Chem. 2005) 3 4 23
  5. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. (PMID: 17880751) Previtali S.C. … Bolino A. (Expert Rev Mol Med 2007) 3 23

Products for SBF2 Gene

Sources for SBF2 Gene

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