Myotubularin-Related Protein 9

Alternative Names

  • MTMR9
  • Myotubularin-Related Protein 8
  • MTMR8
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OMIM Number

606260

NCBI Gene ID

66036

Uniprot ID

Q96QG7

Length

54,711 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Myotubularin-related protein 9

Molecular Mass

63462 Da

Amino Acid Count

549

Genomic Location

chr8:11,284,816-11,339,526

Gene Map Locus
8p23.1

Description

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. [From RefSeq]

Molecular Genetics

The MTMR9 gene is located on the short arm of chromosome 8. It spans a length of 43.7 kb of DNA and its coding sequence is spread across 13 exons. The gene encodes a 63.4 kDa protein product composed of 549 amino acids. An additional 53 kDa isoform of the MTMR9 protein exists due to an alternatively spliced transcript variant. While the gene is widely expressed in the human body, overexpression is seen in the uterus, testis and peripheral blood mononuclear cells.

A SNP (rs2293855) in the MTMR9 gene has been found to have a replicated association with obesity in recent case-control association studies. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015458.4:c.1415A>TSaudi ArabiaNC_000008.11:g.11319767A>TLikely PathogenicMTMR9 Associated Neurodevelopmental DisorderNM_015458.4:c.1415A>T; NP_056273.2:p.Asn472Ile377054169

Other Reports

Saudi Arabia

Monies et al. (2017) illustrated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 11-year-old male, presented with gross motor delay, speech delay, intellectual disability and seizures. He also had 2 sisters that were similarly affected. Whole exome sequencing helped identify a homozygous mutation (c.1415A>T, p.N472I) in exon 9 of the patient’s MTMR gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within the autozygome and was predicted to be deleterious; and the MTMR9 protein has a function in neuronal cells, it forms a complex with MTMR7 and dephosphorylates phosphatidylinositol 3-phosphate and Ins(1,3)P2. The authors noted that further studies are required to confirm this association.   

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