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SBF2
HPA
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  • SUMMARY

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  • SBF2
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

SBF2
Synonyms CMT4B2, DENND7B, KIAA1766, MTMR13
Gene descriptioni

Full gene name according to HGNC.

SET binding factor 2
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 11
Cytoband p15.4
Chromosome location (bp) 9776776 - 10304877
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

19
Ensembl ENSG00000133812 (version 109)
Entrez gene 81846
HGNC HGNC:2135
UniProt Q86WG5 (UniProt - Evidence at protein level)
neXtProt NX_Q86WG5
GeneCards SBF2
Antibodypedia SBF2 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 1, 2. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form 3, 4. 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 5. 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).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Guanine-nucleotide releasing factor
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Autophagy
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SBF2-201
ENSP00000256190
ENST00000256190
Q86WG5
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005768 [endosome]
GO:0005774 [vacuolar membrane]
GO:0005829 [cytosol]
GO:0006914 [autophagy]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0019208 [phosphatase regulator activity]
GO:0019902 [phosphatase binding]
GO:0030424 [axon]
GO:0035091 [phosphatidylinositol binding]
GO:0042552 [myelination]
GO:0042802 [identical protein binding]
GO:0042995 [cell projection]
GO:0043087 [regulation of GTPase activity]
GO:0048471 [perinuclear region of cytoplasm]
Show all
1849 aa
208.5 kDa
No 0
SBF2-202
ENSP00000410478
ENST00000420722
H0Y767
[Direct mapping] Myotubularin-related protein 13
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
727 aa
82 kDa
No 0
SBF2-204
ENSP00000509177
ENST00000525040
A0A8I5KUI9
[Direct mapping] Myotubularin-related protein 13
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
139 aa
15.7 kDa
No 0
SBF2-209
ENSP00000432643
ENST00000530741
H0YD05
[Direct mapping] Myotubularin-related protein 13
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1002 aa
112.7 kDa
No 0
SBF2-213
ENSP00000509247
ENST00000533770
Q86WG5
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005768 [endosome]
GO:0005829 [cytosol]
GO:0006914 [autophagy]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0019208 [phosphatase regulator activity]
GO:0030424 [axon]
GO:0042552 [myelination]
GO:0042995 [cell projection]
GO:0043087 [regulation of GTPase activity]
GO:0048471 [perinuclear region of cytoplasm]
Show all
1152 aa
129.3 kDa
No 0
SBF2-214
ENSP00000502491
ENST00000675281
A0A6Q8PH13
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1874 aa
211.3 kDa
No 0
SBF2-216
ENSP00000502779
ENST00000676387
A0A6Q8PHP8
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1868 aa
210.7 kDa
No 0
SBF2-218
ENSP00000509599
ENST00000686079
A0A8I5KWJ6
[Direct mapping] Myotubularin-related protein 13
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
238 aa
26.6 kDa
No 0
SBF2-221
ENSP00000508741
ENST00000687256
A0A8I5KSD8
[Direct mapping] Myotubularin-related protein 13
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
235 aa
25.7 kDa
No 0
SBF2-222
ENSP00000508415
ENST00000687300
A0A8I5KNS4
[Direct mapping] Myotubularin-related protein 13
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
221 aa
24.5 kDa
No 0
SBF2-223
ENSP00000510516
ENST00000688206
A0A8I5KUN8
[Direct mapping] Myotubularin-related protein 13
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
284 aa
31.5 kDa
No 0
SBF2-224
ENSP00000509987
ENST00000688344
A0A8I5QJN8
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1718 aa
193.7 kDa
No 0
SBF2-227
ENSP00000509587
ENST00000689128
A0A8I5KQ02
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1881 aa
211.9 kDa
No 0
SBF2-228
ENSP00000510475
ENST00000689258
A0A8I5KTA9
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1828 aa
205.9 kDa
No 0
SBF2-231
ENSP00000510781
ENST00000689597
A0A8I5KTX3
[Direct mapping] Myotubularin-related protein 13
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1312 aa
148.6 kDa
No 0
SBF2-233
ENSP00000508452
ENST00000689940
A0A8I5KWY5
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1847 aa
208.2 kDa
No 0
SBF2-241
ENSP00000510763
ENST00000692068
A0A8I5QKS9
[Direct mapping] Myotubularin-related protein 13
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
61 aa
6.8 kDa
No 0
SBF2-242
ENSP00000509545
ENST00000692716
A0A8I5KY55
[Direct mapping] Myotubularin-related protein 13
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0019208 [phosphatase regulator activity]
GO:0043087 [regulation of GTPase activity]
Show all
1806 aa
203.7 kDa
No 0
SBF2-246
ENSP00000510716
ENST00000693212
A0A8I5KWU9
[Direct mapping] Myotubularin-related protein 13
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
219 aa
24.3 kDa
No 0

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