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Hexa Gene Detail
Summary
  • Symbol
    Hexa
  • Name
    hexosaminidase A
  • Synonyms
    Hex-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96073
    NCBI Gene: 15211
  • Gene Overview
    MyGene.info: HEXA
Location & Maps
more
  • Sequence Map
    Chr9:59539667-59565105 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25439 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 32.02 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    HEXA, hexosaminidase subunit alpha
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HEXA, hexosaminidase subunit alpha
    Orthology source: HGNC, HomoloGene
  • Synonyms
    TSD
  • Links
    NCBI Gene ID: 3073
    neXtProt AC: NX_P06865

  • Chr Location
    15q24.1; chr15:72343437-72376179 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Hexa mouse models; 1 with human HEXA associations

Human Disease Mouse Models
       Tay-Sachs Disease; TSD   OMIM: 272800 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    34 phenotypes from multigenic genotypes
    23 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
    23
  • Gene trapped
    18
  • Targeted
    5
  • Incidental Mutations
Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal.
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 ENSMUSG00000025232 Ensembl Gene Model | MGI Sequence Detail 25439 C57BL/6J ±  kb
transcript ENSMUST00000026262 Ensembl | MGI Sequence Detail 1865 Not Applicable  
polypeptide ENSMUSP00000026262 Ensembl | MGI Sequence Detail 528 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    159 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000008524 beta-hexosaminidase subunit alpha
  • EC
  • InterPro Domains
    IPR025705 Beta-hexosaminidase
    IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal
    IPR029018 Chitobiase/beta-hexosaminidase domain 2-like
    IPR013781 Glycoside hydrolase, catalytic domain
    IPR015883 Glycoside hydrolase family 20, catalytic domain
    IPR017853 Glycoside hydrolase superfamily
Molecular
Reagents
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  • All nucleic 157
    Genomic 17
    cDNA 137
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-10696, MGD-MRK-10697
References
more
  • Summaries
    All 73
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 21
    Phenotypes 23
  • Earliest
    J:5526 Gilbert F, et al., Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc Natl Acad Sci U S A. 1975 Jan;72(1):263-7
  • Latest
    J:195995 Redshaw N, et al., TGF-beta/Smad2/3 signaling directly regulates several miRNAs in mouse ES cells and early embryos. PLoS One. 2013;8(1):e55186

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory