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Dlx5 Gene Detail
Summary
  • Symbol
    Dlx5
  • Name
    distal-less homeobox 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:101926
    NCBI Gene: 13395
  • Gene Overview
    MyGene.info: DLX5
Location & Maps
more
  • Genetic Map
    Chromosome 6, 2.83 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DLX5, distal-less homeobox 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DLX5, distal-less homeobox 5
    Orthology source: HomoloGene
  • Synonyms
    SHFM1D
  • Links
    NCBI Gene ID: 1749
    neXtProt AC: NX_P56178

  • Chr Location
    7q22; chr7:97020390-97024831 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3825
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: DLX5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Dlx5 mouse models; 1 with human DLX5 associations

Human Disease Mouse Models
       Split-Hand/Foot Malformation 1; SHFM1   OMIM: 183600 View 1 model
       Split-Hand/Foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive; SHFM1D   OMIM: 220600
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    156 phenotypes from 5 alleles in 7 genetic backgrounds
    23 phenotypes from multigenic genotypes
    42 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.
  • All Mutations and Alleles
    6
  • Targeted
    6
  • Genomic Mutations
    1 involving Dlx5
  • Incidental Mutations
Homozygous null mutants display multiple defects in craniofacial structures, including ears, nose, mandible and calvaria, and die shortly after birth, with some exhibiting exencephaly.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021177 VEGA Gene Model | MGI Sequence Detail 4281 C57BL/6J ±  kb
transcript OTTMUST00000050166 VEGA | MGI Sequence Detail 1423 Not Applicable  
polypeptide OTTMUSP00000023382 VEGA | MGI Sequence Detail 289 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    68 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 59
    Genomic 1
    cDNA 33
    Primer pair 7
    Other 18

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-18757, MGI:2141401
References
more
  • Summaries
    All 292
    Developmental Gene Expression 243
    Diseases 2
    Gene Ontology 21
    Phenotypes 42
  • Earliest
    J:17176 Simeone A, et al., Cloning and characterization of two members of the vertebrate Dlx gene family. Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2250-4
  • Latest
    J:231470 Chandler RL, et al., The SWI/SNF BAF-A complex is essential for neural crest development. Dev Biol. 2016 Mar 1;411(1):15-24

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
08/17/2016
MGI 6.05
The Jackson Laboratory