HEXB hexosaminidase subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: HEXBprovided by HGNC
Official Full Name: hexosaminidase subunit betaprovided by HGNC
Primary source: HGNC:HGNC:4879
See related: Ensembl:ENSG00000049860 MIM:606873; AllianceGenome:HGNC:4879
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ENC-1AS; HEL-248; HEL-S-111
Summary: Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Expression: Ubiquitous expression in placenta (RPKM 128.3), colon (RPKM 50.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (74640023..74721288)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (75120988..75202190)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (73935848..74017113)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Title: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Title: Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Novel bicistronic lentiviral vectors correct beta-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.
Title: Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.
Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
Title: Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
identified a homozygous splice site variant (NM_000521:c.445 + 1G > T) in the hexosaminidase B (HEXB) gene confirming a diagnosis of Sandhoff disease (SD; type II GM2-gangliosidosis), an autosomal recessive lysosomal storage disorder caused by deficiency of hexosaminidases in a single family
Title: Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Direct sequencing of HEXA and HEXB genes showed recurrent homozygous variants at c.509G>A (p.Arg170Gln) and c.850C>T (p.Arg284Ter) in gangliosidosis, respectively
Title: Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Reported data present, for the first time, reference values for urinary activities of HEX and its isoenzymes HEX A and HEX B in children and adolescent.
Title: Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes.
a modified human hexosaminidase subunit beta (HexB), which we have termed mod2B, composed of homodimeric beta subunits that contain amino acid sequences from the alpha subunit that confer GM2 ganglioside-degrading activity and protease resistance.
Title: Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.
Mutations of the HEXB gene is associated with maple syrup urine disease or Sandhoff disease.
Title: Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
report on the heterogeneity of the mutational spectrum of the HEXB gene in Indian patients with Sandhoff disease
Title: Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Sandhoff disease MedGen: C0036161 OMIM: 268800 GeneReviews: Sandhoff Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef ultimately increases the secretion of hexosaminidases due to impairment of GCC2-Rab9 mediated IGF2R (CI-MPR) containing transport vesicles to trans Golgi network from late endosomes	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R97079 (e-PCR)
- UniSTS:28173

SHGC-32009 (e-PCR)
- UniSTS:81454

GDB:615686 (e-PCR)
- UniSTS:158288

SGC32640 (e-PCR)
- UniSTS:18520

HEXBsts1 (e-PCR)
- UniSTS:258490

D5S1611E (e-PCR)
- UniSTS:151031

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-N-acetylglucosaminidase activity	IEA Inferred from Electronic Annotation 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	TAS Traceable Author Statement more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in N-glycan processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in astrocyte cell migration	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in dermatan sulfate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ganglioside catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycosaminoglycan metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosaminoglycan metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hyaluronan catabolic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in maintenance of location in cell	IEA Inferred from Electronic Annotation more info
involved_in male courtship behavior	IEA Inferred from Electronic Annotation more info
involved_in myelination	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in penetration of zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in azurophil granule	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule lumen	TAS Traceable Author Statement more info
part_of beta-N-acetylhexosaminidase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of beta-N-acetylhexosaminidase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical granule	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in lysosomal lumen	NAS Non-traceable Author Statement more info	PubMed
located_in lysosomal lumen	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-hexosaminidase subunit beta

Names: HCC-7; N-acetyl-beta-glucosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; beta-hexosaminidase beta-subunit; cervical cancer proto-oncogene 7 protein; epididymis luminal protein 248; epididymis secretory protein Li 111; epididymis secretory sperm binding protein; hexosaminidase B (beta polypeptide); hexosaminidase subunit B

NP_000512.2

EC 3.2.1.52

NP_001278933.1

EC 3.2.1.52

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.

Genomic

NG_009770.3 RefSeqGene

Range

50212..86267

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000521.4 → NP_000512.2 beta-hexosaminidase subunit beta isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC026405, AC093214

Consensus CDS

CCDS4022.1

UniProtKB/Swiss-Prot

P07686

UniProtKB/TrEMBL

A0A024RAJ6

Related

ENSP00000261416.7, ENST00000261416.12

Conserved Domains (2) summary

cd06562
Location:200 → 540

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:56 → 178

Glycohydro_20b2; beta-acetyl hexosaminidase like
NM_001292004.2 → NP_001278933.1 beta-hexosaminidase subunit beta isoform 2

See identical proteins and their annotated locations for NP_001278933.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, which causes translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AY643499, BC017378

Consensus CDS

CCDS78021.1

UniProtKB/TrEMBL

Q5URX0

Related

ENSP00000426285.1, ENST00000511181.5

Conserved Domains (1) summary

cd06562
Location:1 → 315

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 ...