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Tbio
SBF2
Myotubularin-related protein 13

Protein Summary
Description
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. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000256190
  • ENSP00000256190
  • ENSG00000133812

Symbol
  • CMT4B2
  • KIAA1766
  • MTMR13
  • CMT4B2
  • MTMR13
  • DENND7B
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.99
disease perturbation
0.93
cell type or tissue
0.86
trait
0.86
molecular function
0.81


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 37.16   (req: < 5)
Gene RIFs: 17   (req: <= 3)
Antibodies: 36   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 37.16   (req: >= 5)
Gene RIFs: 17   (req: > 3)
Antibodies: 36   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (22)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
appendicular lean mass
3
3
5
98.9
hematocrit
3
4
4
93.1
hemoglobin measurement
3
3
4
92.4
BMI-adjusted waist-hip ratio
1
1
1
89.5
red blood cell density measurement
1
1
1
84.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
appendicular lean mass
5
98.9
hematocrit
4
93.1
hemoglobin measurement
4
92.4
BMI-adjusted waist-hip ratio
1
89.5
red blood cell density measurement
1
84.2
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
SET binding factor 2
706782
Mouse
MGI:1921831
319934
Rat
RGD:1588657
691042
Dog
SET binding factor 2
VGNC:45882
476849
Horse
SET binding factor 2
VGNC:22706
100055769
Species
Name
OMA
EggNOG
Inparanoid
Macaque
SET binding factor 2
Mouse
Rat
Dog
SET binding factor 2
Horse
SET binding factor 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q86WG5-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (9)
Membrane Trafficking (R-HSA-199991)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Membrane Trafficking
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
PI Metabolism
Reactome
Phospholipid metabolism
Name
Explore in Pharos
Explore in Source
Membrane Trafficking
Metabolism
Metabolism of lipids
PI Metabolism
Phospholipid metabolism
Gene Ontology Terms (11)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (78)
1 – 10 of 78
LSM7
Tbio
Novelty: 0.09112723
p_int: 0.999228769
p_ni: 6.89e-7
p_wrong: 0.000770542
Data Source: BioPlex
MTMR2
Tbio
Family: Enzyme
Novelty: 0.01403122
Score: 0.958
Data Source: Reactome,STRINGDB
RAB21
Tbio
Family: Enzyme
Novelty: 0.03221825
Score: 0.957
Data Source: Reactome,STRINGDB
CHML
Tbio
Family: Enzyme
Novelty: 0.00509709
Score: 0.904
Data Source: Reactome,STRINGDB
CHM
Tbio
Family: Enzyme
Novelty: 0.00226278
Score: 0.904
Data Source: Reactome,STRINGDB
GDI1
Tbio
Novelty: 0.01710945
Score: 0.901
Data Source: Reactome,STRINGDB
GDI2
Tbio
Novelty: 0.02861013
Score: 0.901
Data Source: Reactome,STRINGDB
FIG4
Tbio
Family: Enzyme
Novelty: 0.00742268
Score: 0.846
Data Source: STRINGDB
SH3TC2
Tbio
Novelty: 0.0205934
Score: 0.804
Data Source: STRINGDB
GDAP1
Tbio
Novelty: 0.00682376
Score: 0.756
Data Source: STRINGDB
Publication Statistics
PubMed Score  37.16

PubMed score by year
PubTator Score  34.28

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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