Sbf2 SET binding factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sbf2provided by MGI
Official Full Name: SET binding factor 2provided by MGI
Primary source: MGI:MGI:1921831
See related: Ensembl:ENSMUSG00000038371 AllianceGenome:MGI:1921831
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mtmr13; mMTMH1; 4833411B01Rik; B430219L04Rik
Summary: Enables several functions, including identical protein binding activity; phosphatase binding activity; and phosphatase regulator activity. Predicted to be involved in regulation of GTPase activity. Predicted to act upstream of or within autophagy. Located in vacuolar membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and sciatic nerve. Used to study Charcot-Marie-Tooth disease type 4B2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B2. Orthologous to human SBF2 (SET binding factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 16.7), whole brain E14.5 (RPKM 16.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E3; 7 57.7 cM

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (109907218..110215150, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (110308011..110614934, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Title: Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Mtmr2 and Mtmr13 depend upon each other to achieve wild-type levels of protein expression. Mtmr2 stabilizes Mtmr13 on membranes, indicating that the Mtmr13 pseudophosphatase is regulated by its catalytically active binding partner.
Title: The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.
data indicate that Mtmr2 and Mtmr13/Sbf2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in Charcot-Marie-Tooth disease type 4B
Title: The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.
Mtmr13-deficient mice develop a peripheral neuropathy characterized by reduced nerve conduction velocity and myelin outfoldings and infoldings.
Title: Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Mtmr13 deficient mice are animal models for Charcot Marie Tooth disease.
Title: Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
mRNA expression and subcellular localization of Sbf2.
Title: Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124539 (e-PCR)
- UniSTS:161361

UniSTS:495977 (e-PCR)
- UniSTS:495977

Avpr1b (e-PCR), detects polymorphism
- UniSTS:495977

MDB0733 (e-PCR)
- UniSTS:125033

Sbf2 (e-PCR), detects polymorphism
- UniSTS:497278

px-38e3 (e-PCR)
- UniSTS:257695

BF401497 (e-PCR)
- UniSTS:245480

RH136159 (e-PCR)
- UniSTS:210154

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in vacuolar membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myotubularin-related protein 13

Names: inactive phosphatidylinositol 3-phosphatase 13; myotubularin related protein 13; myotubularin-related protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001404387.1 → NP_001391316.1 myotubularin-related protein 13 isoform 2

Status: VALIDATED

Source sequence(s)

AC122921, AC124472, AC154911

Related

ENSMUSP00000132072.2, ENSMUST00000164759.8
NM_001404388.1 → NP_001391317.1 myotubularin-related protein 13 isoform 3

Status: VALIDATED

Source sequence(s)

AC122921, AC154911
NM_001404389.1 → NP_001391318.1 myotubularin-related protein 13 isoform 4

Status: VALIDATED

Source sequence(s)

AC122921, AC154911
NM_177324.3 → NP_796298.2 myotubularin-related protein 13 isoform 1

Status: VALIDATED

Source sequence(s)

AC122921, AC124472, AC154911

Consensus CDS

CCDS52361.1

UniProtKB/Swiss-Prot

E9PXF8, E9Q305, Q8BJ67, Q8BJD2, Q8BJP4, Q91VH0

UniProtKB/TrEMBL

E9Q0D4

Related

ENSMUSP00000033058.8, ENSMUST00000033058.14

Conserved Domains (7) summary

smart00801
Location:352 → 420

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00800
Location:1 → 87

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1765 → 1870

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:880 → 998

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam02141
Location:116 → 298

DENN; DENN (AEX-3) domain

pfam12335
Location:531 → 752

SBF2; Myotubularin protein

cl28904
Location:1136 → 1508

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

109907218..110215150 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507925.3 → XP_006507988.1 myotubularin-related protein 13 isoform X3

UniProtKB/TrEMBL

E9Q0D4

Conserved Domains (7) summary

smart00801
Location:352 → 420

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00800
Location:1 → 87

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1772 → 1877

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:880 → 998

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam02141
Location:116 → 298

DENN; DENN (AEX-3) domain

pfam12335
Location:531 → 752

SBF2; Myotubularin protein

cl28904
Location:1136 → 1515

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_006507927.4 → XP_006507990.1 myotubularin-related protein 13 isoform X1

UniProtKB/TrEMBL

E9Q0D4

Conserved Domains (7) summary

smart00801
Location:352 → 420

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00800
Location:1 → 87

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1797 → 1902

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:880 → 998

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam02141
Location:116 → 298

DENN; DENN (AEX-3) domain

pfam12335
Location:531 → 752

SBF2; Myotubularin protein

cl28904
Location:1136 → 1540

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_030242673.2 → XP_030098533.1 myotubularin-related protein 13 isoform X6

UniProtKB/TrEMBL

E9Q0D4

Conserved Domains (7) summary

smart00801
Location:351 → 419

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00800
Location:1 → 86

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1739 → 1844

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:879 → 997

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam02141
Location:115 → 297

DENN; DENN (AEX-3) domain

pfam12335
Location:530 → 751

SBF2; Myotubularin protein

cl28904
Location:1135 → 1482

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_030242672.2 → XP_030098532.1 myotubularin-related protein 13 isoform X4

UniProtKB/TrEMBL

E9Q0D4

Conserved Domains (7) summary

smart00801
Location:351 → 419

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00800
Location:1 → 86

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1764 → 1869

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:879 → 997

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam02141
Location:115 → 297

DENN; DENN (AEX-3) domain

pfam12335
Location:530 → 751

SBF2; Myotubularin protein

cl28904
Location:1135 → 1507

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_006507924.3 → XP_006507987.1 myotubularin-related protein 13 isoform X2

UniProtKB/TrEMBL

E9Q0D4

Conserved Domains (7) summary

smart00801
Location:351 → 419

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00800
Location:1 → 86

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1796 → 1901

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:879 → 997

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam02141
Location:115 → 297

DENN; DENN (AEX-3) domain

pfam12335
Location:530 → 751

SBF2; Myotubularin protein

cl28904
Location:1135 → 1539

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_011241830.3 → XP_011240132.1 myotubularin-related protein 13 isoform X7

UniProtKB/TrEMBL

E9Q0D4

Conserved Domains (6) summary

smart00801
Location:108 → 176

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

cd01235
Location:1553 → 1658

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

cd13339
Location:636 → 754

PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam12335
Location:287 → 508

SBF2; Myotubularin protein

cl11519
Location:1 → 54

DENN; DENN (AEX-3) domain

cl28904
Location:892 → 1296

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

RNA

XR_001785572.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178769.2: Suppressed sequence

Description

NM_178769.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.