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Hexb hexosaminidase B [ Mus musculus (house mouse) ]

Gene ID: 15212, updated on 9-Dec-2024

Summary

Official Symbol
Hexbprovided by MGI
Official Full Name
hexosaminidase Bprovided by MGI
Primary source
MGI:MGI:96074
See related
Ensembl:ENSMUSG00000021665 AllianceGenome:MGI:96074
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables beta-N-acetylhexosaminidase activity and identical protein binding activity. Involved in several processes, including astrocyte cell migration; glycosaminoglycan catabolic process; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including ganglioside catabolic process; penetration of zona pellucida; and sensory perception of sound. Located in extracellular space; membrane; and secretory granule. Is active in lysosome. Is expressed in several structures, including endocrine gland; eye; genitourinary system; hemolymphoid system; and nervous system. Used to study Sandhoff disease. Human ortholog(s) of this gene implicated in Sandhoff disease and spinal muscular atrophy. Orthologous to human HEXB (hexosaminidase subunit beta). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in colon adult (RPKM 103.1), genital fat pad adult (RPKM 82.6) and 27 other tissues See more
Orthologs
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Genomic context

See Hexb in Genome Data Viewer
Location:
13 D1; 13 50.66 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (97312839..97334865, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (97176331..97198357, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 169, member A Neighboring gene proteolipid protein 2, retrotransposed Neighboring gene STARR-positive B cell enhancer ABC_E3094 Neighboring gene NSA2 ribosome biogenesis homolog Neighboring gene G elongation factor, mitochondrial 2 Neighboring gene STARR-seq mESC enhancer starr_35367 Neighboring gene STARR-seq mESC enhancer starr_35370 Neighboring gene ectodermal-neural cortex 1 Neighboring gene STARR-seq mESC enhancer starr_35377 Neighboring gene predicted gene, 33390

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables acetylglucosaminyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables beta-N-acetylglucosaminidase activity IEA
Inferred from Electronic Annotation
more info
 
enables beta-N-acetylglucosaminidase activity ISO
Inferred from Sequence Orthology
more info
 
enables beta-N-acetylhexosaminidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables beta-N-acetylhexosaminidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-N-acetylhexosaminidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables beta-N-acetylhexosaminidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables beta-N-acetylhexosaminidase activity ISO
Inferred from Sequence Orthology
more info
 
enables carbohydrate binding ISO
Inferred from Sequence Orthology
more info
 
enables hexosaminidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables hexosaminidase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in N-acetylglucosamine metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in astrocyte cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chondroitin sulfate catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dermatan sulfate catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ganglioside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within ganglioside catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ganglioside catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in ganglioside catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glycosaminoglycan metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within glycosaminoglycan metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in glycosaminoglycan metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycosaminoglycan metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within glycosphingolipid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hyaluronan catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intracellular calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within intracellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipid storage IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lipid storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within locomotory behavior IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lysosome organization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within maintenance of location in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within male courtship behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myelination IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuromuscular process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron cellular homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuron cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within oligosaccharide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within oogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within penetration of zona pellucida IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phospholipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sensory perception of sound IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within sexual reproduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in single fertilization IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within single fertilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within skeletal system development IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in azurophil granule IEA
Inferred from Electronic Annotation
more info
 
located_in azurophil granule ISO
Inferred from Sequence Orthology
more info
 
part_of beta-N-acetylhexosaminidase complex ISO
Inferred from Sequence Orthology
more info
 
part_of beta-N-acetylhexosaminidase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cortical granule IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal lumen NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
beta-hexosaminidase subunit beta
Names
N-acetyl-beta-glucosaminidase subunit beta
beta-N-acetylhexosaminidase subunit beta
hexosaminidase subunit B
NP_034552.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010422.2NP_034552.1  beta-hexosaminidase subunit beta precursor

    See identical proteins and their annotated locations for NP_034552.1

    Status: VALIDATED

    Source sequence(s)
    AK168825, BY145642, CD775639
    Consensus CDS
    CCDS26709.1
    UniProtKB/Swiss-Prot
    P20060
    UniProtKB/TrEMBL
    Q3TXR9
    Related
    ENSMUSP00000022169.8, ENSMUST00000022169.10
    Conserved Domains (2) summary
    cd06562
    Location:179519
    GH20_HexA_HexB-like; Beta-N-acetylhexosaminidases catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. The hexA and hexB genes encode the ...
    pfam14845
    Location:35157
    Glycohydro_20b2; beta-acetyl hexosaminidase like

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    97312839..97334865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)