Details for: MTMR4

Gene ID: 9110

Symbol: MTMR4

Ensembl ID: ENSG00000108389

Description: myotubularin related protein 4

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.73
    Marker Score: 723
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.57
    Marker Score: 1,443
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.56
    Marker Score: 698
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.38
    Marker Score: 5,639
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.38
    Marker Score: 2,126
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.32
    Marker Score: 48,804
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.29
    Marker Score: 13,353
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.27
    Marker Score: 348
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.18
    Marker Score: 72,281
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.17
    Marker Score: 11,088
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.17
    Marker Score: 2,746
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.16
    Marker Score: 10,925
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.15
    Marker Score: 9,868
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.14
    Marker Score: 4,734
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.13
    Marker Score: 17,622
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.04
    Marker Score: 334
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.01
    Marker Score: 38,422
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1
    Marker Score: 3,870
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,711
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,936
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,395
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.98
    Marker Score: 19,468
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.97
    Marker Score: 665
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.97
    Marker Score: 442
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.96
    Marker Score: 3,555
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,399
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.93
    Marker Score: 5,967
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.92
    Marker Score: 4,247
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.91
    Marker Score: 285
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,711
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.9
    Marker Score: 1,824
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.89
    Marker Score: 13,325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,294
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.87
    Marker Score: 6,688
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.87
    Marker Score: 522
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4,898
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.85
    Marker Score: 1,734
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.84
    Marker Score: 4,969
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.83
    Marker Score: 663
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.82
    Marker Score: 17,511
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.82
    Marker Score: 3,538
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.82
    Marker Score: 915
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.81
    Marker Score: 236
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.79
    Marker Score: 252
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,264
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 308
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.77
    Marker Score: 295
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 573
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.74
    Marker Score: 892
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.73
    Marker Score: 1,740
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.73
    Marker Score: 253
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.72
    Marker Score: 3,892
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.72
    Marker Score: 436
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.72
    Marker Score: 4,298
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.7
    Marker Score: 776
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.7
    Marker Score: 659
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2,924
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.69
    Marker Score: 2,907
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.69
    Marker Score: 329
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.69
    Marker Score: 244
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.69
    Marker Score: 23,287
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 0.68
    Marker Score: 674
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.67
    Marker Score: 859
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.66
    Marker Score: 603
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.66
    Marker Score: 701
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.66
    Marker Score: 221
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.66
    Marker Score: 707
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.64
    Marker Score: 1,161
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.64
    Marker Score: 426
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.63
    Marker Score: 306
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.62
    Marker Score: 535
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.62
    Marker Score: 746
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.62
    Marker Score: 344
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.61
    Marker Score: 6,177
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.61
    Marker Score: 158
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.61
    Marker Score: 389
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.61
    Marker Score: 294
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.6
    Marker Score: 2,868
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.6
    Marker Score: 405
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.59
    Marker Score: 345
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.59
    Marker Score: 388
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.59
    Marker Score: 328
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.58
    Marker Score: 1,281
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.58
    Marker Score: 174
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.58
    Marker Score: 337
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.57
    Marker Score: 653
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.57
    Marker Score: 353
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.56
    Marker Score: 234
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.56
    Marker Score: 946
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.56
    Marker Score: 592
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.56
    Marker Score: 556
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.56
    Marker Score: 161
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.56
    Marker Score: 1,821
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.56
    Marker Score: 2,916
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.55
    Marker Score: 320

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MTMR4 is a member of the myotubularin family of proteins, which are characterized by their phosphatase activity. MTMR4 specifically exhibits phosphatidylinositol-3-phosphate phosphatase activity, which is essential for regulating the levels of phosphatidylinositol-3-phosphate (PI3P) in the cell. PI3P is a crucial lipid mediator that plays a key role in various cellular processes, including lipid metabolism, protein synthesis, and cell signaling. MTMR4 is also involved in the regulation of autophagy, a cellular process that involves the degradation and recycling of cellular components. Mutations in MTMR4 have been shown to disrupt autophagy, leading to the accumulation of damaged cellular components and the development of neurodegenerative disorders. **Pathways and Functions** MTMR4 is involved in several signaling pathways, including: 1. **TGF-β receptor signaling pathway**: MTMR4 acts as a negative regulator of the TGF-β receptor signaling pathway, which is involved in cell growth, differentiation, and survival. 2. **Autophagy**: MTMR4 regulates autophagy by controlling the levels of PI3P, which is essential for the formation of autophagosomes. 3. **Lipid metabolism**: MTMR4 is involved in the regulation of lipid metabolism, including the synthesis and degradation of phosphatidylinositol. 4. **Protein dephosphorylation**: MTMR4 exhibits protein phosphatase activity, which is essential for regulating the levels of phosphorylated proteins. **Clinical Significance** Mutations in the MTMR4 gene have been implicated in several neurodegenerative disorders, including: 1. **Distal hereditary motor neuropathy (dHMN)**: MTMR4 mutations have been associated with dHMN, a condition characterized by progressive muscle weakness and wasting. 2. **Spinal muscular atrophy (SMA)**: MTMR4 mutations have been linked to SMA, a condition characterized by progressive muscle weakness and wasting. 3. **Autism spectrum disorder (ASD)**: MTMR4 mutations have been associated with ASD, a condition characterized by impaired social and communication skills. In conclusion, MTMR4 is a critical gene that plays a key role in regulating various cellular processes, including lipid metabolism, autophagy, and signal transduction. Mutations in the MTMR4 gene have been implicated in several neurodegenerative disorders, highlighting its importance in maintaining neuronal function and integrity. Further research is needed to fully understand the role of MTMR4 in human disease and to develop effective therapeutic strategies for the treatment of MTMR4-related disorders.

Genular Protein ID: 943657484

Symbol: MTMR4_HUMAN

Name: Myotubularin-related protein 4

UniProtKB Accession Codes:

Q9NYA4 D3DTZ6 Q8IV27 Q9Y4D5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChEBI 12 ChiTaRS 1 DEPOD 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 3 Rhea 3 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11302699

Title: FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphatidylinositol 3-phosphate.

PubMed ID: 11302699

DOI: 10.1006/excr.2001.5185

PubMed ID: 9734811

Title: Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9734811

DOI: 10.1093/dnares/5.3.169

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 1195
  • Mass: 133353
  • Checksum: 936EC3F69335CEB4
  • Sequence:
    • MGEEGPPSLE YIQAKDLFPP KELVKEEENL QVPFTVLQGE GVEFLGRAAD ALIAISNYRL 
HIKFKDSVIN VPLRMIDSVE SRDMFQLHIS CKDSKVVRCH FSTFKQCQEW LSRLSRATAR 
PAKPEDLFAF AYHAWCLGLT EEDQHTHLCQ PGEHIRCRQE AELARMGFDL QNVWRVSHIN 
SNYKLCPSYP QKLLVPVWIT DKELENVASF RSWKRIPVVV YRHLRNGAAI ARCSQPEISW 
WGWRNADDEY LVTSIAKACA LDPGTRATGG SLSTGNNDTS EACDADFDSS LTACSGVEST 
AAPQKLLILD ARSYTAAVAN RAKGGGCECE EYYPNCEVVF MGMANIHAIR NSFQYLRAVC 
SQMPDPSNWL SALESTKWLQ HLSVMLKAAV LVANTVDREG RPVLVHCSDG WDRTPQIVAL 
AKILLDPYYR TLEGFQVLVE SDWLDFGHKF GDRCGHQENV EDQNEQCPVF LQWLDSVHQL 
LKQFPCLFEF NEAFLVKLVQ HTYSCLYGTF LANNPCEREK RNIYKRTCSV WALLRAGNKN 
FHNFLYTPSS DMVLHPVCHV RALHLWTAVY LPASSPCTLG EENMDLYLSP VAQSQEFSGR 
SLDRLPKTRS MDDLLSACDT SSPLTRTSSD PNLNNHCQEV RVGLEPWHSN PEGSETSFVD 
SGVGGPQQTV GEVGLPPPLP SSQKDYLSNK PFKSHKSCSP SYKLLNTAVP REMKSNTSDP 
EIKVLEETKG PAPDPSAQDE LGRTLDGIGE PPEHCPETEA VSALSKVISN KCDGVCNFPE 
SSQNSPTGTP QQAQPDSMLG VPSKCVLDHS LSTVCNPPSA ACQTPLDPST DFLNQDPSGS 
VASISHQEQL SSVPDLTHGE EDIGKRGNNR NGQLLENPRF GKMPLELVRK PISQSQISEF 
SFLGSNWDSF QGMVTSFPSG EATPRRLLSY GCCSKRPNSK QMRATGPCFG GQWAQREGVK 
SPVCSSHSNG HCTGPGGKNQ MWLSSHPKQV SSTKPVPLNC PSPVPPLYLD DDGLPFPTDV 
IQHRLRQIEA GYKQEVEQLR RQVRELQMRL DIRHCCAPPA EPPMDYEDDF TCLKESDGSD 
TEDFGSDHSE DCLSEASWEP VDKKETEVTR WVPDHMASHC YNCDCEFWLA KRRHHCRNCG 
NVFCAGCCHL KLPIPDQQLY DPVLVCNSCY EHIQVSRARE LMSQQLKKPI ATASS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.