Details for: DMTN

Gene ID: 2039

Symbol: DMTN

Ensembl ID: ENSG00000158856

Description: dematin actin binding protein

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2
    Marker Score: 1172
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.62
    Marker Score: 99752
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.6
    Marker Score: 15214
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.56
    Marker Score: 13429
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.48
    Marker Score: 3002
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169025
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.47
    Marker Score: 13802
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.45
    Marker Score: 2234
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.44
    Marker Score: 14843
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.41
    Marker Score: 728
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.34
    Marker Score: 49376
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.3
    Marker Score: 25939
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.28
    Marker Score: 4951
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.27
    Marker Score: 5271
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.27
    Marker Score: 626.5
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.22
    Marker Score: 9344
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.2
    Marker Score: 45669
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.15
    Marker Score: 17203
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.11
    Marker Score: 1335
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.06
    Marker Score: 2508
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.03
    Marker Score: 975
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.02
    Marker Score: 780
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71796
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1
    Marker Score: 1058
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48021
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.97
    Marker Score: 1605
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 450
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14880
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 364
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5118
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.88
    Marker Score: 466
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.87
    Marker Score: 981
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.87
    Marker Score: 365
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.87
    Marker Score: 2188
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.86
    Marker Score: 361
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.86
    Marker Score: 2313
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.86
    Marker Score: 3482
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.85
    Marker Score: 287
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.85
    Marker Score: 882
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.77
    Marker Score: 2534.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.75
    Marker Score: 206
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 386
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3062
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 647
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.7
    Marker Score: 221
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.7
    Marker Score: 259
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.69
    Marker Score: 2459
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.69
    Marker Score: 979
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.66
    Marker Score: 267
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.64
    Marker Score: 144
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.61
    Marker Score: 1506
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.6
    Marker Score: 1724
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.6
    Marker Score: 1007
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.6
    Marker Score: 253
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.59
    Marker Score: 356
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.57
    Marker Score: 378
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.57
    Marker Score: 439
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.56
    Marker Score: 565
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.55
    Marker Score: 345
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.55
    Marker Score: 341
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.55
    Marker Score: 171
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.54
    Marker Score: 203
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.54
    Marker Score: 4701
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.54
    Marker Score: 580
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.53
    Marker Score: 1084
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.51
    Marker Score: 754
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.5
    Marker Score: 459
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5
    Marker Score: 1132
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5
    Marker Score: 1048.5
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.5
    Marker Score: 1703
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.49
    Marker Score: 864
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.49
    Marker Score: 255
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.48
    Marker Score: 266
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.48
    Marker Score: 10233
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.45
    Marker Score: 217
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.45
    Marker Score: 106
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.45
    Marker Score: 143
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.44
    Marker Score: 142
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.43
    Marker Score: 199
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.43
    Marker Score: 282
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.43
    Marker Score: 111
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.42
    Marker Score: 313
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.42
    Marker Score: 264.5
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.4
    Marker Score: 206
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.4
    Marker Score: 333
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.4
    Marker Score: 238
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.4
    Marker Score: 380
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.38
    Marker Score: 198
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.38
    Marker Score: 380.5
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.38
    Marker Score: 1585

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - DMATN is a transmembrane protein with a molecular weight of approximately 130 kDa. - It is a member of the Actin cytoskeleton family of proteins. - DMATN is expressed in high levels in the secondary lens fiber, L2/3-6 intratelencephalic projecting glutamatergic neuron, corticothalamic-projecting glutamatergic cortical neuron, and L6b glutamatergic cortical neuron. - It is also expressed in GABAergic amacrine cell, mural cell, near-projecting glutamatergic cortical neuron, and L5 extratelencephalic projecting glutamatergic cortical neuron. **Pathways and functions:** - DMATN is involved in actin cytoskeleton organization through its interaction with other cytoskeletal proteins, such as actin, tubulin, and spectrin. - It helps to maintain the integrity and stability of the actin cytoskeleton. - DMATN also plays a role in cell migration by interacting with extracellular matrix proteins and facilitating cell adhesion to the extracellular matrix. - It is involved in calcium-mediated signaling by binding to calcium ions and regulating the activity of downstream signaling pathways. - DMATN also regulates cell shape by interacting with other cytoskeletal proteins and affecting their interactions with other molecules. **Clinical significance:** - Mutations in the DMTN gene have been linked to human diseases, including glaucoma, schizophrenia, and autism. - In glaucoma, mutations in DMTN are associated with the development of the disease and the formation of fluid-filled cysts in the eye. - In schizophrenia, mutations in DMTN are also associated with the development of the disease and are thought to contribute to the formation of amyloid plaques and neurofibrillary tangles. - Therefore, DMATN is a promising target for the development of novel therapies for these and other neurological disorders.

Genular Protein ID: 3667044970

Symbol: DEMA_HUMAN

Name: Dematin

UniProtKB Accession Codes:

Q08495 A8K0T5 B3KP70 B3KRH3 B4DI75 E9PEJ0 Q13215 Q9BRE3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 EPD 1 Ensembl 11 EvolutionaryTrace 1 ExpressionAtlas 1 GO 41 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 39 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 2 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8341682

Title: Cloning of human erythroid dematin reveals another member of the villin family.

PubMed ID: 8341682

DOI: 10.1073/pnas.90.14.6651

PubMed ID: 7615546

Title: Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily.

PubMed ID: 7615546

DOI: 10.1074/jbc.270.29.17407

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 10565303

Title: Loss of heterozygosity on 8p in prostate cancer implicates a role for dematin in tumor progression.

PubMed ID: 10565303

DOI: 10.1016/s0165-4608(99)00081-3

PubMed ID: 11856323

Title: Dematin interacts with the Ras-guanine nucleotide exchange factor Ras-GRF2 and modulates mitogen-activated protein kinase pathways.

PubMed ID: 11856323

DOI: 10.1046/j.0014-2956.2001.02694.x

PubMed ID: 18347014

Title: Dematin and adducin provide a novel link between the spectrin cytoskeleton and human erythrocyte membrane by directly interacting with glucose transporter-1.

PubMed ID: 18347014

DOI: 10.1074/jbc.m707818200

PubMed ID: 19367720

Title: Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.

PubMed ID: 19367720

DOI: 10.1021/pr800500r

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 18318008

Title: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.

PubMed ID: 18318008

DOI: 10.1002/pmic.200700884

PubMed ID: 19241372

Title: Dematin exhibits a natively unfolded core domain and an independently folded headpiece domain.

PubMed ID: 19241372

DOI: 10.1002/pro.59

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21084299

Title: Dematin, a component of the erythrocyte membrane skeleton, is internalized by the malaria parasite and associates with Plasmodium 14-3-3.

PubMed ID: 21084299

DOI: 10.1074/jbc.m110.194613

PubMed ID: 22927433

Title: Identification of a novel role for dematin in regulating red cell membrane function by modulating spectrin-actin interaction.

PubMed ID: 22927433

DOI: 10.1074/jbc.m111.305441

PubMed ID: 23060452

Title: Headpiece domain of dematin regulates calcium mobilization and signaling in platelets.

PubMed ID: 23060452

DOI: 10.1074/jbc.m112.364679

PubMed ID: 23355471

Title: The allosteric mechanism induced by protein kinase A (PKA) phosphorylation of dematin (band 4.9).

PubMed ID: 23355471

DOI: 10.1074/jbc.m112.438861

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

PubMed ID: 14660664

Title: The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site.

PubMed ID: 14660664

DOI: 10.1074/jbc.m310524200

PubMed ID: 16472756

Title: A phosphorylation-induced conformation change in dematin headpiece.

PubMed ID: 16472756

DOI: 10.1016/j.str.2005.11.007

Sequence Information:

  • Length: 405
  • Mass: 45514
  • Checksum: 77D6372E5B16EFF4
  • Sequence:
    • MERLQKQPLT SPGSVSPSRD SSVPGSPSSI VAKMDNQVLG YKDLAAIPKD KAILDIERPD 
LMIYEPHFTY SLLEHVELPR SRERSLSPKS TSPPPSPEVW ADSRSPGIIS QASAPRTTGT 
PRTSLPHFHH PETSRPDSNI YKKPPIYKQR ESVGGSPQTK HLIEDLIIES SKFPAAQPPD 
PNQPAKIETD YWPCPPSLAV VETEWRKRKA SRRGAEEEEE EEDDDSGEEM KALRERQREE 
LSKVTSNLGK MILKEEMEKS LPIRRKTRSL PDRTPFHTSL HQGTSKSSSL PAYGRTTLSR 
LQSTEFSPSG SETGSPGLQN GEGQRGRMDR GNSLPCVLEQ KIYPYEMLVV TNKGRTKLPP 
GVDRMRLERH LSAEDFSRVF AMSPEEFGKL ALWKRNELKK KASLF

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. For the full schema, download it here.