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Dmtn
Gene Detail
Symbol

Name
ID
Dmtn
dematin actin binding protein
MGI:99670
Synonyms
dematin, Epb4.9
Feature Type
protein coding gene
Genetic Map
Chromosome 14
36.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr14:70602184-70636048 bp, - strand
From NCBI annotation of GRCm38

  33865 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1496  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: dematin
Gene Tree: Dmtn

Human
homologs
Human Homolog DMTN, dematin actin binding protein
NCBI Gene ID 2039
neXtProt AC  NX_Q08495
Human Synonyms  DMT, EPB49
Human Chr (Location)  8p21.1; chr8:22049149-22082525 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(243) : Gene trapped(240) Targeted(3)
Incidental mutations (data from APF )
 
Mice homozygous for a targeted mutation display mild anemia and spherocytosis. Mutant erythrocytes are osmotically fragile and show reduced deformability and filterability as well as increased membrane fragmentation and selective loss of spectrin and actin from RBC membrane skeletons and vesicles.
 
Interactions
Dmtn interacts with 313 markers (Mir7-1, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (55 annotations)
Process actin cytoskeleton organization, actin filament bundle assembly, ...
Component actin filament, cell, ...
Function actin binding, protein self-association, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (133)    Tissues (39)    Images (32)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 133
cDNA source data(57)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(58) cDNA(58)
Microarray probesets(6)
Other database
links
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 13829 NCBI Gene Model | MGI Sequence Detail 33865 C57BL/6J ±  kb
transcript NM_001252662 RefSeq | MGI Sequence Detail 4254 C57BL/6 
polypeptide Q9WV69 UniProt | EBI | MGI Sequence Detail 405 Not Applicable 

For the selected sequences
All sequences(112) RefSeq(56) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(318 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003128 Villin headpiece
Protein Ontology PR:000007115 dematin
Graphical View of Protein Domain Structure
References
(Earliest) J:25233 Peters LL, et al., The gene encoding the erythrocyte membrane skeleton protein dematin (Epb4.9) maps to mouse chromosome 14. Genomics. 1995 Apr 10;26(3):634-5
(Latest) J:192631 Wieschhaus AJ, et al., Headpiece domain of dematin regulates calcium mobilization and signaling in platelets. J Biol Chem. 2012 Nov 30;287(49):41218-31
All references(51)
Other
accession IDs
MGD-MRK-16455, MGI:2145622

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory