MTMR2 myotubularin related protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTMR2provided by HGNC
Official Full Name: myotubularin related protein 2provided by HGNC
Primary source: HGNC:HGNC:7450
See related: Ensembl:ENSG00000087053 MIM:603557; AllianceGenome:HGNC:7450
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMT4B; CMT4B1
Summary: This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in testis (RPKM 15.9), brain (RPKM 10.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11q21

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (95832880..95924107, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (95840305..95931520, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (95566044..95657271, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.
Title: An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Title: Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
Title: MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
Our findings suggest that MTMR2 is an important promoter in gastric cancer (GC) invasion and metastasis by inactivating IFNgamma/STAT1 signaling and may act as a new prognostic indicator and a potential therapeutic target for GC.
Title: MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling.
report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review
Title: Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
Title: Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform
Title: SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings
Title: A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events.
Title: Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.
Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients.
Title: [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 4B1 MedGen: C1832399 OMIM: 601382 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-52606 (e-PCR)
- UniSTS:16662

RH45560 (e-PCR)
- UniSTS:21808

RH69570 (e-PCR)
- UniSTS:26989

MARC_15773-15774:1041971367:1 (e-PCR)
- UniSTS:267899

RH119986 (e-PCR)
- UniSTS:133310

WI-21645 (e-PCR)
- UniSTS:11731

SHGC-32290 (e-PCR)
- UniSTS:76532

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS Traceable Author Statement more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate phosphatase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dendritic spine maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in myelin assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of myelination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of receptor catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron development	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of early endosome to late endosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in vacuolar membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; myotubularin-related protein 2

Names: phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphatase; phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase

NP_001230500.1

EC 3.1.3.95

NP_057240.3

EC 3.1.3.95

NP_958435.1

EC 3.1.3.95

NP_958438.1

EC 3.1.3.95

XP_047283761.1

EC 3.1.3.95

XP_047283762.1

EC 3.1.3.95

XP_047283763.1

EC 3.1.3.95

XP_047283764.1

EC 3.1.3.95

XP_054226341.1

EC 3.1.3.95

XP_054226342.1

EC 3.1.3.95

XP_054226343.1

EC 3.1.3.95

XP_054226344.1

EC 3.1.3.95

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_008333.1 RefSeqGene

Range

5001..96328

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_257

mRNA and Protein(s)

NM_001243571.2 → NP_001230500.1 phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

See identical proteins and their annotated locations for NP_001230500.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) includes three additional internal exons in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AB028996, AK027038, BC012086, BF960838, BP358035, BX647997, DR762520, GD143864, U58033

Consensus CDS

CCDS8306.1

UniProtKB/TrEMBL

A0A6Q8PGS5

Related

ENSP00000501702.1, ENST00000675489.1

Conserved Domains (2) summary

pfam06602
Location:130 → 456

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:1 → 115

PH-like; Pleckstrin homology-like domain
NM_016156.6 → NP_057240.3 phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 1

See identical proteins and their annotated locations for NP_057240.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB028996, AI360884, BP358035, BX107577, BX647997, DR762520, GD143864

Consensus CDS

CCDS8305.1

UniProtKB/Swiss-Prot

A6NN98, Q13614, Q9UPS9

UniProtKB/TrEMBL

A8K5G2

Related

ENSP00000345752.6, ENST00000346299.10

Conserved Domains (2) summary

pfam06602
Location:192 → 528

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:73 → 187

PH-like; Pleckstrin homology-like domain
NM_201278.3 → NP_958435.1 phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

See identical proteins and their annotated locations for NP_958435.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes two additional internal exons in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AB028996, AI360884, BC034474, BP358035, BX107577, BX647997, DR762520, GD143864

Consensus CDS

CCDS8306.1

UniProtKB/TrEMBL

A0A6Q8PGS5

Related

ENSP00000501675.1, ENST00000676261.1

Conserved Domains (2) summary

pfam06602
Location:130 → 456

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:1 → 115

PH-like; Pleckstrin homology-like domain
NM_201281.3 → NP_958438.1 phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

See identical proteins and their annotated locations for NP_958438.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an additional internal exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AB028996, AI360884, BX107577, BX647997, DR762520, GD143864

Consensus CDS

CCDS8306.1

UniProtKB/TrEMBL

A0A6Q8PGS5

Related

ENSP00000343737.7, ENST00000352297.11

Conserved Domains (2) summary

pfam06602
Location:130 → 456

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:1 → 115

PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

95832880..95924107 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427806.1 → XP_047283762.1 myotubularin-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A6Q8PGS5

Related

ENSP00000501781.1, ENST00000675454.1
XM_047427807.1 → XP_047283763.1 myotubularin-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A6Q8PGS5

Related

ENSP00000502567.1, ENST00000674968.1
XM_047427808.1 → XP_047283764.1 myotubularin-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A6Q8PGS5

Related

ENSP00000501567.1, ENST00000674528.1
XM_047427805.1 → XP_047283761.1 myotubularin-related protein 2 isoform X1

UniProtKB/TrEMBL

A0A6Q8PGS5

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

95840305..95931520 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370369.1 → XP_054226344.1 myotubularin-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A6Q8PGS5
XM_054370367.1 → XP_054226342.1 myotubularin-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A6Q8PGS5
XM_054370368.1 → XP_054226343.1 myotubularin-related protein 2 isoform X2

UniProtKB/TrEMBL

A0A6Q8PGS5
XM_054370366.1 → XP_054226341.1 myotubularin-related protein 2 isoform X1

UniProtKB/TrEMBL

A0A6Q8PGS5