MTMR9 myotubularin related protein 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTMR9provided by HGNC
Official Full Name: myotubularin related protein 9provided by HGNC
Primary source: HGNC:HGNC:14596
See related: Ensembl:ENSG00000104643 MIM:606260; AllianceGenome:HGNC:14596
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: MTMR8; C8orf9; LIP-STYX
Summary: This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 9.7), testis (RPKM 6.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (11284816..11339526)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (8398321..8454196, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (11142325..11185655)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study.
Title: Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study.
MTMR9 localizes to the intermediate compartment and to the Golgi apparatus. MTMR9 modulates WNT3A signalling by interfering with WNT3A secretion.
Title: Human myotubularin-related protein 9 regulates ER-to-Golgi trafficking and modulates WNT3A secretion.
Polymorphism of rs2293855 in MTMR9 is associated with measures of glucose tolerance, indices of insulin secretion and indices of insulin sensitivity.
Title: The MTMR9 rs2293855 polymorphism is associated with glucose tolerance, insulin secretion, insulin sensitivity and increased risk of prediabetes.
MTMR6, which dephosphorylates PI(3)P to PI, and its binding partner MTMR9, are required for macropinocytosis.
Title: Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis.
Our data suggest that genetic variations in the FTO, SCG3 and MTMR9 genes independently influence the risk of metabolic syndrome.
Title: Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population.
MTMR9 greatly enhances the functions of MTMR6
Title: MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
Title: Association of single-nucleotide polymorphisms in MTMR9 gene with obesity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94325 (e-PCR)
- UniSTS:90628

RH47610 (e-PCR)
- UniSTS:54022

D11S2921 (e-PCR)
- UniSTS:152074

NoName (e-PCR)
- UniSTS:483388

L18426 (e-PCR)
- UniSTS:34648

D17S1239 (e-PCR)
- UniSTS:149852

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-53404 (e-PCR)
- UniSTS:55168

RH98511 (e-PCR)
- UniSTS:90313

SHGC-24302 (e-PCR)
- UniSTS:52440

D8S1593 (e-PCR)
- UniSTS:6890

SHGC-57848 (e-PCR)
- UniSTS:79598

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme regulator activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of autophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of autophagy	IPI Inferred from Physical Interaction more info	PubMed
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
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	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myotubularin-related protein 9

Names: inactive phosphatidylinositol 3-phosphatase 9; myotubularin related protein 8

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_015458.4 → NP_056273.2 myotubularin-related protein 9

See identical proteins and their annotated locations for NP_056273.2

Status: REVIEWED

Source sequence(s)

AJ297823, BU631532

Consensus CDS

CCDS5979.1

UniProtKB/Swiss-Prot

B7Z291, Q52LU3, Q8WW11, Q96QG6, Q96QG7, Q9NX50

UniProtKB/TrEMBL

Q53EW4

Related

ENSP00000221086.3, ENST00000221086.8

Conserved Domains (2) summary

cd13211
Location:1 → 97

PH-GRAM_MTMR9; Myotubularian (MTM) related 9 protein (MTMR9) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:127 → 446

Myotub-related; Myotubularin-like phosphatase 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_000008.11 Reference GRCh38.p14 Primary Assembly

Range

11284816..11339526

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422125.1 → XP_047278081.1 myotubularin-related protein 9 isoform X1
XM_017013753.3 → XP_016869242.1 myotubularin-related protein 9 isoform X3
XM_011543831.3 → XP_011542133.1 myotubularin-related protein 9 isoform X2

Conserved Domains (1) summary

pfam06602
Location:1 → 248

Myotub-related; Myotubularin-like phosphatase domain