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Aliases for SBF2 Gene

Aliases for SBF2 Gene

  • SET Binding Factor 2 2 3 5
  • DENN/MADD Domain Containing 7B 2 3
  • SET-Binding Factor 2 3 4
  • CMT4B2 3 4
  • MTMR13 3 4
  • Charcot-Marie-Tooth Neuropathy 4B2 (Autosomal Recessive, With Myelin Outfolding) 2
  • Myotubularin-Related Protein 13 3
  • Myotubularin Related 13 2
  • KIAA1766 4
  • DENND7B 3

External Ids for SBF2 Gene

Previous HGNC Symbols for SBF2 Gene

  • CMT4B2

Previous GeneCards Identifiers for SBF2 Gene

  • GC11M009757
  • GC11M009472

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 4. GO annotations related to this gene include protein homodimerization activity and phosphatidylinositol binding. An important paralog of this gene is SBF1.

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

Regulatory Elements for SBF2 Gene

Enhancers for SBF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SBF2 on UCSC Golden Path with GeneCards custom track

Promoters for SBF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SBF2 Gene

Chromosome:
11
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

Genes around SBF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SBF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for SBF2 Gene

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 :
  • Contains 1 dDENN domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • Contains 1 dDENN domain.
  • Contains 1 DENN domain.
  • Contains 1 GRAM domain.
  • Contains 1 myotubularin phosphatase domain.
  • Contains 1 PH domain.
  • Contains 1 uDENN domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
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:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
GO:0019208 phosphatase regulator activity IEA --
GO:0019902 phosphatase binding IEA --
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with SBF2: view
genes like me logo Genes that share phenotypes with SBF2: view

Human Phenotype Ontology for SBF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SBF2 Gene

miRTarBase miRNAs that target SBF2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
cytosol 4
nucleus 3
cytoskeleton 2
endosome 2
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 & Interactions 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: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 and SIGNOR curated interactions for SBF2 Gene

Drugs & Compounds for SBF2 Gene

No Compound Related Data Available

Transcripts for SBF2 Gene

Unigene Clusters for SBF2 Gene

SET binding factor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for SBF2 Gene

This gene is overexpressed in Platelet (37.1), Placenta (7.8), and Neutrophil (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SBF2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SBF2 Gene:

SBF2

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 expression patterns with SBF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SBF2 34
  • 91.74 (n)
  • 95.19 (a)
SBF2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SBF2 34
  • 92.81 (n)
  • 95.89 (a)
SBF2 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sbf2 34
  • 88.97 (n)
  • 94.04 (a)
Sbf2 16
Sbf2 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SBF2 34
  • 97.82 (n)
  • 97.09 (a)
rat
(Rattus norvegicus)
Mammalia RGD1559442 34
  • 88.93 (n)
  • 93.84 (a)
oppossum
(Monodelphis domestica)
Mammalia SBF2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves SBF2 34
  • 78.9 (n)
  • 86.17 (a)
SBF2 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SBF2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sbf2 34
  • 71.99 (n)
  • 82.47 (a)
Str.20171 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8649 34
zebrafish
(Danio rerio)
Actinopterygii sbf2 34
  • 68.94 (n)
  • 74.26 (a)
sbf2 35
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003366 34
  • 50.91 (n)
  • 47.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sbf 34
  • 52.1 (n)
  • 46.19 (a)
Sbf 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtm-5 34
  • 42.85 (n)
  • 31.23 (a)
mtm-5 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3355 35
  • 37 (a)
OneToMany
Species where no ortholog for SBF2 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs16907355 - 9,998,332(+) CATTC(A/G)GGAAT intron-variant, reference, synonymous-codon
VAR_051767 -
rs12574508 - 9,832,230(+) GGCCT(C/G)AGGGG reference, missense
rs1017517 -- 10,253,116(-) TTTGG(G/T)ATTTA intron-variant
rs1057398 -- 10,138,904(-) ccaca(A/G)atagc intron-variant

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

Variant ID Type Subtype PubMed ID
dgv322e212 CNV loss 25503493
dgv585n106 CNV deletion 24896259
esv2087227 CNV deletion 18987734
esv22125 CNV loss 19812545
esv2386638 CNV deletion 18987734
esv2459856 CNV deletion 19546169
esv2543425 CNV deletion 19546169
esv2632556 CNV deletion 19546169
esv2662075 CNV deletion 23128226
esv2663460 CNV deletion 23128226
esv2665897 CNV deletion 23128226
esv2666504 CNV deletion 23128226
esv2668058 CNV deletion 23128226
esv2744095 CNV deletion 23290073
esv2744099 CNV deletion 23290073
esv2744100 CNV deletion 23290073
esv2762895 CNV loss 21179565
esv3547308 CNV deletion 23714750
esv3547309 CNV deletion 23714750
esv3579359 CNV loss 25503493
esv3579362 CNV loss 25503493
esv3579363 CNV loss 25503493
esv3579366 CNV loss 25503493
esv3625343 CNV loss 21293372
esv3625344 CNV loss 21293372
esv3625346 CNV loss 21293372
esv3625347 CNV loss 21293372
esv3625348 CNV loss 21293372
esv3625349 CNV loss 21293372
esv3625350 CNV loss 21293372
esv3625352 CNV loss 21293372
esv3625353 CNV loss 21293372
esv3658 CNV loss 18987735
esv6401 CNV loss 19470904
nsv1036041 CNV loss 25217958
nsv1041148 CNV loss 25217958
nsv1053369 CNV gain 25217958
nsv1070937 CNV deletion 25765185
nsv1075842 CNV deletion 25765185
nsv1110089 CNV deletion 24896259
nsv1125180 CNV insertion 24896259
nsv1141189 CNV duplication 24896259
nsv1147052 CNV deletion 26484159
nsv471749 CNV loss 16327809
nsv483076 CNV gain+loss 15286789
nsv510239 OTHER sequence alteration 20534489
nsv510240 OTHER sequence alteration 20534489
nsv512210 CNV loss 21212237
nsv515552 CNV loss 19592680
nsv517092 CNV loss 19592680
nsv519992 CNV loss 19592680
nsv520415 CNV loss 19592680
nsv521169 CNV loss 19592680
nsv553468 CNV gain 21841781
nsv553475 CNV loss 21841781
nsv553476 CNV loss 21841781
nsv7674 CNV insertion 18451855
nsv825763 CNV loss 20364138
nsv825765 CNV loss 20364138
nsv8788 CNV loss 18304495
nsv8789 CNV gain+loss 18304495
nsv930477 CNV deletion 23359205
nsv975150 CNV duplication 23825009
nsv982983 CNV duplication 23825009
nsv982984 CNV duplication 23825009

Variation tolerance for SBF2 Gene

Residual Variation Intolerance Score: 0.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.06; 75.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SBF2 Gene

Human Gene Mutation Database (HGMD)
SBF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SBF2

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

Disorders for SBF2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SBF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4b2
  • charcot-marie-tooth disease type 4b2
charcot-marie-tooth neuropathy type 4
  • cmt4
early-onset glaucoma
  • hereditary glaucoma
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search SBF2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SBF2

Genetic Association Database (GAD)
SBF2
Human Genome Epidemiology (HuGE) Navigator
SBF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SBF2
genes like me logo Genes that share disorders with SBF2: view

No data available for Genatlas for SBF2 Gene

Publications for SBF2 Gene

  1. 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 22 65
  2. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. (PMID: 15304601) Hirano R. … Arimura K. (Neurology 2004) 3 4 22 65
  3. 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 22 65
  4. 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 22 65
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65

Products for SBF2 Gene

Sources for SBF2 Gene

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