About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    ChrX:169176114-169187200 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11087 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AMELY, amelogenin, Y-linked
  • Vertebrate Orthologs
    4
  • Human Ortholog
    AMELY, amelogenin, Y-linked
    Orthology source: HomoloGene
  • Synonyms
    AMGL, AMGY
  • Links
    NCBI Gene ID: 266
    neXtProt AC: NX_Q99218

  • Chr Location
    Yp11.2; chrY:6865918-6911937 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Amelx mouse models

Human Disease Mouse Models
       Amelogenesis Imperfecta, Type IE; AI1E   OMIM: 301200 View 6 models
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
    15 phenotypes from 7 alleles in 7 genetic backgrounds
    5 phenotypes from multigenic genotypes
    5 images
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Targeted
    6
  • Transgenic
    4
  • Incidental Mutations
Homozygous mutation of this gene results in brittle teeth and reduced enamel thickness.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019595 VEGA Gene Model | MGI Sequence Detail 11087 C57BL/6J ±  kb
transcript OTTMUST00000046811 VEGA | MGI Sequence Detail 802 Not Applicable  
polypeptide OTTMUSP00000021171 VEGA | MGI Sequence Detail 219 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    63 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000003988 amelogenin, X isoform
  • InterPro Domains
    IPR004116 Amelogenin
Molecular
Reagents
less
  • All nucleic 78
    Genomic 17
    cDNA 51
    Primer pair 8
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-1295, MGD-MRK-1296, MGI:3807976
References
more
  • Summaries
    All 146
    Developmental Gene Expression 44
    Diseases 4
    Gene Ontology 11
    Phenotypes 21
  • Earliest
    J:20261 Snead ML, et al., DNA sequence for cloned cDNA for murine amelogenin reveal the amino acid sequence for enamel-specific protein. Biochem Biophys Res Commun. 1985 Jun 28;129(3):812-8
  • Latest
    J:209065 Brookes SJ, et al., Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate. Hum Mol Genet. 2014 May 1;23(9):2468-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory