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Hexb
Gene Detail
 Symbol
Name
ID
Hexb
hexosaminidase B
MGI:96074
Feature Type protein coding gene
Genetic Map
Chromosome 13
50.66 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr13:97176332-97198357 bp, - strand
From Ensembl annotation of GRCm38

  22026 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:437  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 2 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: beta-hexosaminidase, subunit alpha/subunit beta, eukaryotic type
Gene Tree: Hexb

Human
homologs
Human Homolog HEXB, hexosaminidase B (beta polypeptide)
NCBI Gene ID 3074
neXtProt AC  NX_P07686
Human Synonyms  ENC-1AS, HEL-248
Human Chr (Location)  5q13; chr5:74685144-74721288 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human HEXB
Mutations,
alleles, and
phenotypes
All mutations/alleles(54) : Gene trapped(50) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Hexb (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(10)
Interactions
Hexb interacts with 39 markers (Mir7-1, Mir19a, Mir22, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (56 annotations)
Process astrocyte cell migration, carbohydrate metabolic process, ...
Component acrosomal vesicle, cell, ...
Function beta-N-acetylglucosaminidase activity, beta-N-acetylhexosaminidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (191)    Tissues (116)    Images (30)
Theiler Stages: 20, 21, 22, 23, 24, 26, 27, 28
Assay TypeResults
RNA in situ 153
Northern blot 11
Western blot 2
RT-PCR 25
cDNA source data(139)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(181) Genomic(37) cDNA(141) Primer pair(2) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000021665 (Evidence)
Entrez Gene15212 (Evidence)
UniGene27816
DFCITC1574088, TC1697907
NIA Mouse Gene IndexU035072
EC3.2.1.52
Consensus CDS ProjectCCDS26709.1
International Mouse Knockout Project StatusHexb
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021665 Ensembl Gene Model | MGI Sequence Detail 22026 C57BL/6J ±  kb
transcript ENSMUST00000022169 Ensembl | MGI Sequence Detail 1904 Not Applicable 
polypeptide ENSMUSP00000022169 Ensembl | MGI Sequence Detail 536 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(2) UniProt(2)
Polymorphisms RFLP(5) : SNPs within 2kb(160 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR025705 Beta-hexosaminidase subunit alpha/beta
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR015883 Glycoside hydrolase family 20, catalytic core
InterPro IPR017853 Glycoside hydrolase, superfamily
Protein Ontology PR:000008525 beta-hexosaminidase subunit beta
References (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:206864 Vitner EB, et al., RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med. 2014 Feb;20(2):204-8
All references(103)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-10698

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory