• Gene id: 2039

Gene Summary

• Gene Symbol: DMTN   Gene   UCSC   Ensembl
• Aliases: DMT, EPB49
• Gene name: dematin actin binding protein
• Alternate names: dematin, erythrocyte membrane protein band 4.9 (dematin),
• Gene location: 8p21.3 (22048930: 22082526)     Exons: 21     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This pr
• OMIM: 607125

Protein Summary

• Protein general information: Q08495  
  • Name: Dematin (Dematin actin binding protein) (Erythrocyte membrane protein band 4.9)
  • Length: 405  
  • Mass: 45514
  • Tissue specificity: Expressed in platelets (at protein level). Expressed in heart, brain, lung, skeletal muscle, and kidney. {ECO
• Sequence:

  MERLQKQPLTSPGSVSPSRDSSVPGSPSSIVAKMDNQVLGYKDLAAIPKDKAILDIERPDLMIYEPHFTYSLLEH
  VELPRSRERSLSPKSTSPPPSPEVWADSRSPGIISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQR
  ESVGGSPQTKHLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPSLAVVETEWRKRKASRRGAEEEEEEEDDD
  SGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPFHTSLHQGTSKSSSLPAYGRTTLSR
  LQSTEFSPSGSETGSPGLQNGEGQRGRMDRGNSLPCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAED
  FSRVFAMSPEEFGKLALWKRNELKKKASLF

• Structural information:
  • Protein Domains: (337..40-)
    (/note="HP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00595"-)
  • Interpro: IPR032402  IPR003128  IPR036886  
  • Prosite: PS51089
  • PDB: 1QZP 1ZV6
  • PDBsum: 1QZP 1ZV6
  • STRING: ENSP00000427866
• Other Databases: GeneCards:  DMTN  Malacards:  DMTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0030032	lamellipodium assembly	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0030507	spectrin binding	IDA	molecular function
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IDA	biological process
GO:0031095	platelet dense tubular network membrane	IDA	cellular component
GO:0014731	spectrin-associated cytoskeleton	IDA	cellular component
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005884	actin filament	IDA	cellular component
GO:0005102	signaling receptor binding	IDA	molecular function
GO:2001046	positive regulation of integrin-mediated signaling pathway	ISS	biological process
GO:1901731	positive regulation of platelet aggregation	ISS	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	ISS	biological process
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	ISS	biological process
GO:0090527	actin filament reorganization	ISS	biological process
GO:0090303	positive regulation of wound healing	ISS	biological process
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0070560	protein secretion by platelet	ISS	biological process
GO:0051895	negative regulation of focal adhesion assembly	ISS	biological process
GO:0051489	regulation of filopodium assembly	IMP	biological process
GO:0048821	erythrocyte development	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0035585	calcium-mediated signaling using extracellular calcium source	ISS	biological process
GO:0035585	calcium-mediated signaling using extracellular calcium source	ISS	NOT|biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	ISS	biological process
GO:0033137	negative regulation of peptidyl-serine phosphorylation	ISS	biological process
GO:0031253	cell projection membrane	ISS	cellular component
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0010801	negative regulation of peptidyl-threonine phosphorylation	ISS	biological process
GO:0010591	regulation of lamellipodium assembly	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0090315	negative regulation of protein targeting to membrane	ISS	biological process
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0030194	positive regulation of blood coagulation	ISS	biological process
GO:0010812	negative regulation of cell-substrate adhesion	ISS	biological process
GO:0010763	positive regulation of fibroblast migration	ISS	biological process
GO:0065003	protein-containing complex assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0051693	actin filament capping	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0008360	regulation of cell shape	IEA	biological process
GO:0010801	negative regulation of peptidyl-threonine phosphorylation	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0031253	cell projection membrane	IEA	cellular component
GO:0033137	negative regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048821	erythrocyte development	IEA	biological process
GO:0051895	negative regulation of focal adhesion assembly	IEA	biological process
GO:0070560	protein secretion by platelet	IEA	biological process
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0090303	positive regulation of wound healing	IEA	biological process
GO:0090527	actin filament reorganization	IEA	biological process
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	IEA	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IEA	biological process
GO:1901731	positive regulation of platelet aggregation	IEA	biological process
GO:2001046	positive regulation of integrin-mediated signaling pathway	IEA	biological process
GO:0010763	positive regulation of fibroblast migration	IEA	biological process
GO:0010812	negative regulation of cell-substrate adhesion	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030194	positive regulation of blood coagulation	IEA	biological process
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0043621	protein self-association	IEA	molecular function
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0090315	negative regulation of protein targeting to membrane	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0051017	actin filament bundle assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0015629	actin cytoskeleton	TAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq