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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
  • 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
  • SET-Binding Factor 2 4
  • 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 Neuropathy, Congenital Hypomyelinating. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. 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

Additional gene information for SBF2 Gene

No data available for CIViC summary , 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
GH11H009751 2 FANTOM5 Ensembl ENCODE dbSUPER 28.3 +534.4 534439 15 HDGF MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF766 CTR9 SBF2 ENSG00000254397 RPL21P97 ST5 SWAP70 TMEM9B-AS1 ZNF143 SBF2-AS1 ENSG00000238387
GH11H009799 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +491.6 491572 5 BACH1 FEZF1 CEBPG ZBTB40 ZNF121 ZNF316 ZNF366 POLR2A MAFK ZNF740 SBF2 CTR9 ZNF143 LOC101928008 ENSG00000254865 SBF2-AS1 SWAP70 LOC105369149
GH11H010319 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.2 -30.7 -30673 11 FOXA2 MLX ARID4B DMAP1 YY1 FOS SP5 REST KAT8 SSRP1 LOC105376544 SBF2 ADM ENSG00000254865 MRVI1 LYVE1 ENSG00000250041 PIR60970 CAND1.11 AMPD3
GH11H009903 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +387.8 387843 5 MXI1 FOXA2 JUN MAX SIN3A RAD21 RFX5 ETS1 GATA3 POLR2A SBF2 LOC101928008 ENSG00000250041 LOC105376544 SWAP70 ENSG00000238387 ADM ENSG00000254765 RNU7-28P
GH11H009861 1.3 Ensembl ENCODE dbSUPER 16.7 +431.4 431418 1 ELF3 DRAP1 CTCF RB1 ARID4B MAX FEZF1 ZIC2 ZNF644 RAD21 SBF2 LOC101928008 ENSG00000254865 RNU7-28P ENSG00000254765
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000036710 107 1801 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GLIS2 FOS

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

No data available for DME Specific Peptides for SBF2 Gene

Domains & Families for SBF2 Gene

Gene 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 :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
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.

Phenotypes From GWAS Catalog for SBF2 Gene

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 TAS --
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

  • Applied Biological Materials Clones for SBF2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SBF2 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005774 vacuolar membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,IEA 15998640
genes like me logo Genes that share ontologies with SBF2: view

Pathways & Interactions for SBF2 Gene

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

Pathways by source for SBF2 Gene

Gene Ontology (GO) - Biological Process for SBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042552 myelination NAS 15998640
GO:0043087 regulation of GTPase activity IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051262 protein tetramerization IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with SBF2: view

No data available for 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

  • Applied Biological Materials Clones for SBF2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for SBF2 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SBF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
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
chimpanzee
(Pan troglodytes)
Mammalia SBF2 33
  • 97.82 (n)
dog
(Canis familiaris)
Mammalia SBF2 33 34
  • 92.81 (n)
cow
(Bos Taurus)
Mammalia SBF2 33 34
  • 91.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sbf2 33 16 34
  • 88.97 (n)
rat
(Rattus norvegicus)
Mammalia RGD1559442 33
  • 88.93 (n)
oppossum
(Monodelphis domestica)
Mammalia SBF2 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SBF2 33 34
  • 78.9 (n)
lizard
(Anolis carolinensis)
Reptilia SBF2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sbf2 33
  • 71.99 (n)
Str.20171 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8649 33
zebrafish
(Danio rerio)
Actinopterygii sbf2 33 34
  • 68.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sbf 33 34
  • 52.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003366 33
  • 50.91 (n)
worm
(Caenorhabditis elegans)
Secernentea mtm-5 33 34
  • 42.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3355 34
  • 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
rs120074137 Pathogenic 9,847,015(-) CAATG(C/T)AGAAC intron-variant, nc-transcript-variant, reference, stop-gained
rs120074138 Pathogenic 9,832,290(-) TCCTC(C/T)GATCT nc-transcript-variant, reference, stop-gained
rs120074139 Pathogenic 9,968,482(-) ATTTG(C/T)GAGTT nc-transcript-variant, reference, stop-gained
rs879253988 Pathogenic 9,808,128(-) GCTTC(C/T)AGATG nc-transcript-variant, reference, stop-gained
rs869312963 Likely pathogenic 9,816,961(-) TGATG(C/T)TGGCG nc-transcript-variant, reference, missense

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

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4b2
  • charcot-marie-tooth disease type 4b2
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
congenital hypomyelination neuropathy
  • charcot-marie-tooth disease type 4e
charcot-marie-tooth disease, type 4b1
  • charcot-marie-tooth disease type 4b1
charcot-marie-tooth neuropathy
  • charcot-marie-tooth disease
- 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 FL … Dixon JE (The Journal of biological chemistry 2005) 3 4 22 60
  2. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. (PMID: 15304601) Hirano R … Arimura K (Neurology 2004) 3 4 22 60
  3. 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 (American journal of human genetics 2003) 3 4 22 60
  4. 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 (Human molecular genetics 2003) 3 4 22 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for SBF2 Gene

Sources for SBF2 Gene

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