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Ascl5 Gene Detail
Summary
  • Symbol
    Ascl5
  • Name
    achaete-scute family bHLH transcription factor 5
  • Synonyms
    AmeloD, Ascl5-ps, bHLHa47, LOC226439
Location &
Maps
more
  • Sequence Map
    Chr1:135978542-135979108 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 59.54 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    122 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685043
 protein coding gene Chr1:135978321-135979810 (+)
129S1/SvImJ ENSMUSG00200007018
 protein coding gene Chr1:133593611-133594177 (+)
A/J ENSMUSG00195015407
 protein coding gene Chr1:132665959-132666525 (+)
AKR/J ENSMUSG00220002646
 protein coding gene Chr1:132556826-132557392 (+)
BALB/cJ ENSMUSG00180011131
 protein coding gene Chr1:133206509-133207075 (+)
C3H/HeJ ENSMUSG00175006432
 protein coding gene Chr1:132910004-132910570 (+)
C57BL/6NJ ENSMUSG00215012028
 protein coding gene Chr1:132908364-132908930 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014649
 protein coding gene Chr1:127660481-127661047 (+)
CAST/EiJ ENSTCUG00005033456
 protein coding gene Chr1:131839845-131840411 (+)
CBA/J ENSMUSG00210013913
 protein coding gene Chr1:132840340-132840906 (+)
DBA/2J ENSMUSG00185028950
 protein coding gene Chr1:137217468-137218034 (+)
FVB/NJ ENSMUSG00205002187
 protein coding gene Chr1:132176038-132176604 (+)
JF1/MsJ ENSUMUG00000045222
 protein coding gene Chr1:136341610-136342176 (+)
LP/J ENSMUSG00230038470
 protein coding gene Chr1:136741133-136741699 (+)
NOD/ShiLtJ ENSMUSG00190002691
 protein coding gene Chr1:132854368-132854934 (+)
NZO/HlLtJ ENSMUSG00225019745
 protein coding gene Chr1:140508133-140508699 (+)
PWK/PhJ ENSLUMG00010001734
 protein coding gene Chr1:131966318-131966884 (+)
SPRET/EiJ ENSMSPG00010011682
 protein coding gene Chr1:134766435-134767001 (+)
WSB/EiJ ENSIUOG00005027415
 protein coding gene Chr1:132623953-132624519 (+)



Homology
more
  • Human Ortholog
    ASCL5, achaete-scute family bHLH transcription factor 5
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASCL5, achaete-scute family bHLH transcription factor 5
  • Synonyms
    AmeloD, ASH-5, bHLHa47, LBDT
  • Links
    NCBI Gene ID: 647219
    UniProt: Q7RTU5

  • Chr Location
    1q32.1; chr1:201113943-201127184 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    11 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.
Homozygous expression of the disease related p.E89K allele affects skeletal and dental development, leading to smaller bodies, reduced bone density and thickness and abnormal molar and incisor morphology. Heterozygotes have a normal skeleton and less severe molar dysmorphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    7
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
    698
  • Tissues
    79
  • cDNA Data
    5
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000097918 Ensembl Gene Model | MGI Sequence Detail 567 C57BL/6J ±  kb
    transcript ENSMUST00000180436 Ensembl | MGI Sequence Detail 567 Not Applicable  
    polypeptide ENSMUSP00000137746 Ensembl | MGI Sequence Detail 188 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 5
      Primer pair 2
      Other 1
      Antibodies 1
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 6
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:382307 Theerapanon T, et al., A missense variant in ASCL5 leads to lobodontia. Nat Commun. 2026 Feb 12;17(1)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory