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Dmtn Gene Detail
Summary
  • Symbol
    Dmtn
  • Name
    dematin actin binding protein
  • Synonyms
    dematin, Epb4.9
  • Feature Type
    protein coding gene
  • IDs
    MGI:99670
    NCBI Gene: 13829
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:70839624-70873488 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 36.32 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    884 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99670
 protein coding gene Chr14:70838703-70873488 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021546
 protein coding gene Chr14:65261757-65297944 (-)
A/J MGP_AJ_G0021505
 protein coding gene Chr14:63871266-63899167 (-)
AKR/J MGP_AKRJ_G0021481
 protein coding gene Chr14:65786089-65815522 (-)
BALB/cJ MGP_BALBcJ_G0021511
 protein coding gene Chr14:63634359-63662125 (-)
C3H/HeJ MGP_C3HHeJ_G0021288
 protein coding gene Chr14:65500091-65531496 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021950
 protein coding gene Chr14:68172064-68208207 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019490
 protein coding gene Chr14:61708216-61744302 (-)
CAST/EiJ MGP_CASTEiJ_G0020805
 protein coding gene Chr14:62097275-62133608 (-)
CBA/J MGP_CBAJ_G0021255
 protein coding gene Chr14:70322971-70355679 (-)
DBA/2J MGP_DBA2J_G0021378
 protein coding gene Chr14:63256279-63285654 (-)
FVB/NJ MGP_FVBNJ_G0021357
 protein coding gene Chr14:62685685-62720525 (-)
LP/J MGP_LPJ_G0021449
 protein coding gene Chr14:66502444-66540549 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021386
 protein coding gene Chr14:69199752-69240341 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021974
 protein coding gene Chr14:65048472-65084163 (-)
PWK/PhJ MGP_PWKPhJ_G0020549
 protein coding gene Chr14:60025448-60059946 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020382
 protein coding gene Chr14:60974965-61012855 (-)
WSB/EiJ MGP_WSBEiJ_G0020858
 protein coding gene Chr14:65361364-65396128 (-)



Homology
more
  • Human Ortholog
    DMTN, dematin actin binding protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DMTN, dematin actin binding protein
  • Synonyms
    DMT, EPB49
  • Links
    NCBI Gene ID: 2039
    neXtProt AC: NX_Q08495
    UniProt: Q08495

  • Chr Location
    8p21.3; chr8:22048931-22082527 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    62
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    839
  • Tissues
    39
  • cDNA Data
    58
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13829 NCBI Gene Model | MGI Sequence Detail 33865 C57BL/6J ±  kb
    transcript NM_001252662 RefSeq | MGI Sequence Detail 4254 ZRU/MplStud  
    polypeptide Q9WV69 UniProt | EBI | MGI Sequence Detail 405 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 59
      cDNA 59

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16455, MGI:2145622
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 7
      Gene Ontology 11
      Phenotypes 16
    • 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:353480 Huang S, et al., Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis. Nat Commun. 2024 Aug 15;15(1):7019
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory