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Amelx Gene Detail
Summary
  • Symbol
    Amelx
  • Name
    amelogenin, X-linked
  • Synonyms
    Amel, Amg, M100888, Rgsc888
  • Feature Type
    protein coding gene
  • IDs
    MGI:88005
    NCBI Gene: 11704
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:167959110-167970196 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 78.95 cM
  • Mapping Data
    47 experiments
Strain
Comparison
more
  • SNPs within 2kb
    203 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    9
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88005
 protein coding gene ChrX:167959110-167970205 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036276
 protein coding gene ChrX:167396517-167407721 (-)
A/J MGP_AJ_G0036246
 protein coding gene ChrX:166508734-166520237 (-)
AKR/J MGP_AKRJ_G0036175
 protein coding gene ChrX:171844361-171855432 (-)
BALB/cJ MGP_BALBcJ_G0036240
 protein coding gene ChrX:164471719-164482795 (-)
C3H/HeJ MGP_C3HHeJ_G0035947
 protein coding gene ChrX:167704440-167715576 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036763
 protein coding gene ChrX:172241737-172252810 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033583
 protein coding gene ChrX:157232467-157243650 (-)
CAST/EiJ MGP_CASTEiJ_G0035234
 protein coding gene ChrX:146568360-146579431 (-)
CBA/J MGP_CBAJ_G0035921
 protein coding gene ChrX:177242851-177253936 (-)
DBA/2J MGP_DBA2J_G0036087
 protein coding gene ChrX:165271595-165282684 (-)
FVB/NJ MGP_FVBNJ_G0036019
 protein coding gene ChrX:164413845-164424936 (-)
LP/J MGP_LPJ_G0036172
 protein coding gene ChrX:168469114-168480194 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0036051
 protein coding gene ChrX:185982600-185993875 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036802
 protein coding gene ChrX:166889844-166900925 (-)
PWK/PhJ MGP_PWKPhJ_G0034933
 protein coding gene ChrX:143268438-143279724 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034752
 protein coding gene ChrX:147161243-147172338 (-)
WSB/EiJ MGP_WSBEiJ_G0035370
 protein coding gene ChrX:164664931-164676003 (-)



Homology
more
  • Human Ortholog
    AMELX, amelogenin X-linked
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AMELX, amelogenin X-linked
  • Synonyms
    AI1E, AIH1, ALGN, AMG, AMGL, AMGX
  • Links
    NCBI Gene ID: 265
    neXtProt AC: NX_Q99217
    UniProt: Q99217

  • Chr Location
    Xp22.2; chrX:11293413-11309588 (+)  GRCh38
  • Human Ortholog
    AMELY, amelogenin Y-linked
  • Synonyms
    AMGL, AMGY
  • Links
    NCBI Gene ID: 266
    neXtProt AC: NX_Q99218
    UniProt: Q99218

  • Chr Location
    Yp11.2; chrY:6865918-6911752 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Amelx mouse models; 2 with human AMELX associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 4 alleles in 5 genetic backgrounds
    13 phenotypes from multigenic genotypes
    5 images
    40 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 mutation of this gene results in brittle teeth and reduced enamel thickness.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    16
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
    1064
  • Tissues
    209
  • cDNA Data
    51
  • Literature Summary
    75
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031354 Ensembl Gene Model | MGI Sequence Detail 11087 C57BL/6J ±  kb
    transcript ENSMUST00000066112 Ensembl | MGI Sequence Detail 802 Not Applicable  
    polypeptide ENSMUSP00000065966 Ensembl | MGI Sequence Detail 219 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      Genomic 17
      cDNA 52
      Primer pair 15
      Other 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1295, MGD-MRK-1296, MGI:3807976
    References
    more
    • Summaries
      All 215
      Developmental Gene Expression 75
      Diseases 4
      Gene Ontology 16
      Phenotypes 40
    • Earliest
      J:291 Randelia HP, et al., "Bare", a new hairless mutant in the mouse - genetics and histology. Genet Res. 1961;2(2):283-89
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory