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Hexb Gene Detail
Summary
  • Symbol
    Hexb
  • Name
    hexosaminidase B
  • Feature Type
    protein coding gene
  • IDs
    MGI:96074
    NCBI Gene: 15212
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:97312839-97334865 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 50.66 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    633 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96074
 protein coding gene Chr13:97312839-97334865 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020859
 protein coding gene Chr13:98776629-98799112 (-)
A/J MGP_AJ_G0020813
 protein coding gene Chr13:95038631-95060008 (-)
AKR/J MGP_AKRJ_G0020787
 protein coding gene Chr13:97939893-97962279 (-)
BALB/cJ MGP_BALBcJ_G0020810
 protein coding gene Chr13:95723342-95745192 (-)
C3H/HeJ MGP_C3HHeJ_G0020602
 protein coding gene Chr13:97660502-97683412 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021245
 protein coding gene Chr13:101754902-101777748 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018815
 protein coding gene Chr13:90802834-90826486 (-)
CAST/EiJ MGP_CASTEiJ_G0020121
 protein coding gene Chr13:96970026-96997169 (-)
CBA/J MGP_CBAJ_G0020562
 protein coding gene Chr13:105817571-105846423 (-)
DBA/2J MGP_DBA2J_G0020687
 protein coding gene Chr13:94791602-94814405 (-)
FVB/NJ MGP_FVBNJ_G0020668
 protein coding gene Chr13:93559465-93582753 (-)
LP/J MGP_LPJ_G0020762
 protein coding gene Chr13:98885644-98907874 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020696
 protein coding gene Chr13:106159634-106182770 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021286
 protein coding gene Chr13:97356492-97381397 (-)
PWK/PhJ MGP_PWKPhJ_G0019873
 protein coding gene Chr13:93573428-93596402 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019697
 protein coding gene Chr13:93638870-93660586 (-)
WSB/EiJ MGP_WSBEiJ_G0020178
 protein coding gene Chr13:97814215-97836112 (-)



Homology
more
  • Human Ortholog
    HEXB, hexosaminidase subunit beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEXB, hexosaminidase subunit beta
  • Synonyms
    ENC-1AS, HEL-248, HEL-S-111
  • Links
    NCBI Gene ID: 3074
    neXtProt AC: NX_P07686
    UniProt: P07686

  • Chr Location
    5q13.3; chr5:74640023-74722647 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hexb mouse models; 2 with human HEXB associations

Human Disease Mouse Models
      
IDs
 View 9 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 7 alleles in 7 genetic backgrounds
    53 phenotypes from multigenic genotypes
    10 images
    84 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 mutants exhibit spasticity, muscle weakness, rigidity, tremors, and ataxia beginning around 4 months of age and resulting in death about 6 weeks later. Mutants accumulate GM2 ganglioside and glycolipid GA2 in brain.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    80
  • GO References
    39
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
    928
  • Tissues
    128
  • cDNA Data
    140
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15212 NCBI Gene Model | MGI Sequence Detail 22027 C57BL/6J ±  kb
    transcript NM_010422 RefSeq | MGI Sequence Detail 1922 ZRU/MplStud  
    polypeptide P20060 UniProt | EBI | MGI Sequence Detail 536 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000008525 beta-hexosaminidase subunit beta
      (term hierarchy)
    • EC
      3.2.1.52
    • InterPro Domains
      IPR025705 Beta-hexosaminidase
      IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal
      IPR029018 Beta-hexosaminidase-like, domain 2
      IPR015883 Glycoside hydrolase family 20, catalytic domain
      IPR017853 Glycoside hydrolase superfamily
    • GlyGen
      P20060 5 sites, 4 N-linked glycans (3 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 182
      Genomic 37
      cDNA 142
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10698
    References
    more
    • Summaries
      All 153
      Developmental Gene Expression 10
      Diseases 7
      Gene Ontology 39
      Phenotypes 84
    • 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:350556 Rosmus DD, et al., Redefining the ontogeny of hyalocytes as yolk sac-derived tissue-resident macrophages of the vitreous body. J Neuroinflammation. 2024 Jul 3;21(1):168
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory