SBF2 Gene (Protein Coding)

SET Binding Factor 2

GC11M009788
GIFtS:
40
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] See more...

Aliases for SBF2 Gene

Aliases for SBF2 Gene

  • SET Binding Factor 2 2 3 5
  • MTMR13 2 3 4
  • Inactive Phosphatidylinositol 3-Phosphatase 13 3 4
  • Myotubularin-Related Protein 13 3 4
  • DENN/MADD Domain Containing 7B 2 3
  • KIAA1766 2 4
  • DENND7B 2 3
  • CMT4B2 3 4
  • Charcot-Marie-Tooth Neuropathy 4B2 (Autosomal Recessive, With Myelin Outfolding) 2
  • Myotubularin Related 13 2
  • SET-Binding Factor 2 4
  • SBF2 5

External Ids for SBF2 Gene

Previous HGNC Symbols for SBF2 Gene

  • CMT4B2

Previous GeneCards Identifiers for SBF2 Gene

  • GC11M009757
  • GC11M009800
  • GC11M009472
  • GC11M009783
  • GC11M009784
  • GC11M009785
  • GC11M009786

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, 1, Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and phosphatidylinositol binding. An important paralog of this gene is SBF1.

UniProtKB/Swiss-Prot Summary for SBF2 Gene

  • Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity).

Gene Wiki entry for SBF2 Gene

Additional gene information for SBF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SBF2 Gene

Genomics for SBF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SBF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SBF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SBF2

Top Transcription factor binding sites by QIAGEN in the SBF2 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for SBF2 Gene

Latest Assembly
chr11:9,778,667-10,294,219
(GRCh38/hg38)
Size:
515,553 bases
Orientation:
Minus strand

Previous Assembly
chr11:9,800,215-10,315,766
(GRCh37/hg19 by Entrez Gene)
Size:
515,552 bases
Orientation:
Minus strand

chr11:9,800,214-10,315,754
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for SBF2 Gene

Proteins for SBF2 Gene

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  • 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:
    • Homodimer (By similarity). Heterotetramer consisting of one MTMR2 dimer and one SBF2/MTMR13 dimer (PubMed:15998640). Interacts with class II PI3-kinase PIK3C2A (By similarity). Interacts (via DENN domain) with RAB21 (in GDP-bound form) in response to starvation; the interaction activates RAB21 (PubMed:25648148). Interacts with VAMP8 in response to starvation (PubMed:25648148).

    Alternative splice isoforms for SBF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SBF2 Gene

Protein Expression for SBF2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SBF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SBF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SBF2 Gene

Domains & Families for SBF2 Gene

Gene Families for SBF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SBF2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • GRAM domain

Suggested Antigen Peptide Sequences for SBF2 Gene

GenScript: Design optimal peptide antigens:
  • SET-binding factor 2 (MTMRD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WG5

UniProtKB/Swiss-Prot:

MTMRD_HUMAN :
  • The C-terminal domain mediates homodimerization (By similarity). By mediating SBF2/MTMR13 homodimerization, indirectly involved in SBF2/MTMR13 and MTMR2 heterotetramerization (By similarity).
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The C-terminal domain mediates homodimerization (By similarity). By mediating SBF2/MTMR13 homodimerization, indirectly involved in SBF2/MTMR13 and MTMR2 heterotetramerization (By similarity).
  • The GRAM domain mediates binding to phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3,4,5-trisphosphate.
  • The PH domain binds preferentially phosphatidylinositol 3,4,5-trisphosphate (By similarity). Appears to be dispensable for localization to membranes (By similarity).
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

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  6. Cell Lines for research

Molecular function for SBF2 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity).

Phenotypes From GWAS Catalog for SBF2 Gene

Gene Ontology (GO) - Molecular Function for SBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IBA,IDA 20937701
GO:0005515 protein binding IPI 15998640
GO:0019208 phosphatase regulator activity IEA --
GO:0019902 phosphatase binding IPI --
GO:0035091 phosphatidylinositol binding IDA --
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 Models for research

miRNA for SBF2 Gene

miRTarBase miRNAs that target SBF2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBF2

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. Cytoplasm, perinuclear region. Membrane. Peripheral membrane protein. Endosome membrane. Peripheral membrane protein. Cell projection, axon. Note=Associated with membranes (PubMed:15998640). Localizes to vacuoles in hypo-osmotic conditions (By similarity). Membrane localization is likely to be mediated via its interaction with MTMR2 (By similarity). {ECO:0000250 UniProtKB:E9PXF8, ECO:0000269 PubMed:15998640}.

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
endosome 4
nucleus 3
cytoskeleton 2
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 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,IBA 21873635
GO:0005768 endosome IEA --
GO:0005774 vacuolar membrane IDA --
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane IEA --
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:0006914 autophagy IEA --
GO:0042552 myelination NAS 15998640
GO:0043087 regulation of GTPase activity IEA --
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

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No Compound Related Data Available

Transcripts for SBF2 Gene

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  1. CRISPR products for research
  2. miRNA products for research
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mRNA/cDNA for SBF2 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBF2

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

No ASD Table

Relevant External Links for SBF2 Gene

GeneLoc Exon Structure for
SBF2

Expression for SBF2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SBF2 Gene

mRNA expression in normal human tissues for SBF2 Gene
mRNA expression by BioGPS for SBF2 GenemRNA expression by GTEx for SBF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for SBF2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Liver(4.2)
  • Intestine(4.2)
  • Kidney(2.2)
  • Muscle(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
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 for research

No data available for 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 29
  • 97.82 (n)
Dog
(Canis familiaris)
 Mammalia SBF2 29 30
  • 92.81 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SBF2 29 30
  • 91.74 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 91 (a)
 OneToMany
-- 30
  • 87 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Sbf2 29 16 30
  • 88.97 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia RGD1559442 29
  • 88.93 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SBF2 30
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SBF2 29 30
  • 78.9 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SBF2 30
  • 85 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sbf2 29
  • 71.99 (n)
Str.20171 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8649 29
Zebrafish
(Danio rerio)
 Actinopterygii sbf2 29 30
  • 68.94 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Sbf 29 30
  • 52.1 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003366 29
  • 50.91 (n)
Worm
(Caenorhabditis elegans)
 Secernentea mtm-5 29 30
  • 42.85 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3355 30
  • 37 (a)
 OneToMany
Species where no ortholog for SBF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SBF2: view image
Alliance of Genome Resources:
Additional Orthologs for SBF2

Paralogs for SBF2 Gene

Paralogs for SBF2 Gene

(3) SIMAP similar genes for SBF2 Gene using alignment to 4 proteins:

  • MTMRD_HUMAN
  • H0Y767_HUMAN
  • H0YD05_HUMAN
  • H0YDZ1_HUMAN
genes like me logo Genes that share paralogs with SBF2: view

Variants for SBF2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SBF2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1003820 Uncertain Significance: Charcot-Marie-Tooth disease type 4 9,852,687(-) G/A
NC_000011.9:g.9874234G>A 		MISSENSE
1004468 Uncertain Significance: Charcot-Marie-Tooth disease type 4 10,042,851(-) T/G
NC_000011.9:g.10064398T>G 		MISSENSE
1005684 Uncertain Significance: Charcot-Marie-Tooth disease type 4 9,846,999(-) T/C
NC_000011.9:g.9868546T>C 		MISSENSE
1007404 Uncertain Significance: Charcot-Marie-Tooth disease type 4 9,808,955(-) C/G
NC_000011.9:g.9830502C>G 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1007440 Uncertain Significance: Charcot-Marie-Tooth disease type 4 9,858,362(-) G/A
NC_000011.9:g.9879909G>A 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SBF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SBF2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SBF2 Gene

MalaCards: The human disease database

(35) MalaCards diseases for SBF2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for SBF2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SBF2: view

No data available for Genatlas for SBF2 Gene

Publications for SBF2 Gene

  1. 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 72
  2. 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 72
  3. 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
  4. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. (PMID: 15304601) Hirano R … Arimura K (Neurology 2004) 3 4 22
  5. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. (PMID: 25648148) Jean S … Kiger AA (EMBO reports 2015) 3 4

ExternalLinks

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