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 alph... See more...

Aliases for HEXB Gene

Aliases for HEXB Gene

  • Hexosaminidase Subunit Beta 2 3 5
  • Beta-Hexosaminidase Subunit Beta 2 3 4
  • N-Acetyl-Beta-Glucosaminidase Subunit Beta 3 4
  • Beta-N-Acetylhexosaminidase Subunit Beta 3 4
  • Cervical Cancer Proto-Oncogene 7 Protein 3 4
  • Hexosaminidase B (Beta Polypeptide) 2 3
  • Hexosaminidase Subunit B 3 4
  • EC 3.2.1.52 4 51
  • HCC-7 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Secretory Protein Li 111 3
  • Beta-Hexosaminidase Beta-Subunit 3
  • Epididymis Luminal Protein 248 3
  • HEL-S-111 3
  • ENC-1AS 3
  • HEL-248 3
  • HEXB 5

External Ids for HEXB Gene

Previous GeneCards Identifiers for HEXB Gene

  • GC05P072785
  • GC05P074213
  • GC05P074019
  • GC05P074065
  • GC05P074016
  • GC05P069185
  • GC05P073935

Summaries for HEXB Gene

Entrez Gene Summary for HEXB Gene

  • 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]

GeneCards Summary for HEXB Gene

HEXB (Hexosaminidase Subunit Beta) is a Protein Coding gene. Diseases associated with HEXB include Sandhoff Disease and Gm2 Gangliosidosis. Among its related pathways are Glycosaminoglycan metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is HEXA.

UniProtKB/Swiss-Prot Summary for HEXB Gene

  • Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:9694901, PubMed:8672428, PubMed:8123671). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:9694901, PubMed:8672428, PubMed:8123671).

Tocris Summary for HEXB Gene

Gene Wiki entry for HEXB Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEXB Gene

Genomics for HEXB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HEXB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J074635 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 260.5 0.0 -18 9.1 CHD2 ZBTB10 MXD4 BCL11A FEZF1 CEBPA MNT ETS1 ZNF217 POLR2A ENC1 HEXB lnc-ENC1-5 ENSG00000242198 ENSG00000272040 NSA2 HSALNG0042691
GH05J074684 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 259.9 +46.1 46099 3.8 TBP ZBTB10 IKZF1 SMAD5 MBD2 ELF1 NONO THAP11 ZNF623 SIN3A HEXB HSALNG0042694 ENSG00000272040 RNU6-658P RNU6-1330P FAM169A NONHSAG040727.2 ENC1 NSA2
GH05J074664 Enhancer 0.7 Ensembl 12 +26.8 26778 4.4 FEZF1 CEBPA ZNF843 PRDM6 CEBPG RCOR1 PRDM4 ZNF384 ZNF561 CEBPB ENC1 HEXB RNU6-658P lnc-ENC1-6 RF01045-120 NSA2
GH05J074676 Enhancer 0.3 ENCODE 6.7 +37.2 37228 1 CEBPB FOS HEXB lnc-ENC1-6 piR-43106-165 ENC1 NSA2
GH05J074682 Enhancer 0.3 ENCODE 7.9 +43.4 43375 0.8 ZNF680 HSALNG0042694 HEXB piR-43106-165 ENC1 NSA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEXB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEXB

Top Transcription factor binding sites by QIAGEN in the HEXB gene promoter:
  • AML1a
  • Brachyury
  • Cdc5
  • E47
  • Ik-2
  • Pax-4a
  • POU2F1
  • POU2F1a
  • S8
  • Tal-1

Genomic Locations for HEXB Gene

Latest Assembly
chr5:74,640,023-74,722,647
(GRCh38/hg38)
Size:
82,625 bases
Orientation:
Plus strand

Previous Assembly
chr5:73,935,848-74,017,113
(GRCh37/hg19 by Entrez Gene)
Size:
81,266 bases
Orientation:
Plus strand

chr5:73,935,848-74,018,472
(GRCh37/hg19 by Ensembl)
Size:
82,625 bases
Orientation:
Plus strand

Genomic View for HEXB Gene

Genes around HEXB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEXB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEXB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEXB Gene

Proteins for HEXB Gene

  • Protein details for HEXB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07686-HEXB_HUMAN
    Recommended name:
    Beta-hexosaminidase subunit beta
    Protein Accession:
    P07686

    Protein attributes for HEXB Gene

    Size:
    556 amino acids
    Molecular mass:
    63111 Da
    Quaternary structure:
    • There are 3 forms of beta-hexosaminidase: hexosaminidase A is an heterodimer composed of one subunit alpha and one subunit beta (chain A and B); hexosaminidase B is an homodimer of two beta subunits (two chains A and B); hexosaminidase S is a homodimer of two alpha subunits (By similarity). The composition of the dimer (isozyme A versus isozyme S) has a significant effect on the substrate specificity of the alpha subunit active site (PubMed:8672428).
    SequenceCaution:
    • Sequence=AAA51828.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA68620.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HEXB Gene

neXtProt entry for HEXB Gene

Selected DME Specific Peptides for HEXB Gene

P07686:
  • HLGGDEV
  • PRLWPRA
  • DTSRHYLP
  • LRGLETFSQL
  • ARLRGIRV
  • EFDTPGHTLSWG
  • LSAPWYL

Post-translational modifications for HEXB Gene

  • N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively.
  • The beta-A and beta-B chains are produced by proteolytic processing of the precursor beta chain.
  • Glycosylation at Asn84, Asn142, Asn190, and Asn327
  • Ubiquitination at Lys465
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for HEXB Gene

Antibodies for research

  • Abcam antibodies for HEXB

Domains & Families for HEXB Gene

Gene Families for HEXB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HEXB Gene

InterPro:
Blocks:
  • Glycosyl hydrolase family 20 signature
ProtoNet:

Suggested Antigen Peptide Sequences for HEXB Gene

GenScript: Design optimal peptide antigens:
  • N-acetyl-beta-glucosaminidase subunit beta (HEXB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07686

UniProtKB/Swiss-Prot:

HEXB_HUMAN :
  • Belongs to the glycosyl hydrolase 20 family.
Family:
  • Belongs to the glycosyl hydrolase 20 family.
genes like me logo Genes that share domains with HEXB: view

Function for HEXB Gene

Molecular function for HEXB Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:9694901, PubMed:8672428, PubMed:8123671). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:9694901, PubMed:8672428, PubMed:8123671).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.; EC=3.2.1.52; Evidence={ECO:0000269|PubMed:11707436, ECO:0000269|PubMed:8123671, ECO:0000269|PubMed:8672428, ECO:0000269|PubMed:9694901};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-3-sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide = a beta-D-3-sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + N-acetyl-beta-D-galactosamine; Xref=Rhea:RHEA:48276, ChEBI:CHEBI:15377, ChEBI:CHEBI:28497, ChEBI:CHEBI:90163, ChEBI:CHEBI:90164; Evidence={ECO:0000269|PubMed:11707436};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GM2 (d18:1(4E)) + H2O = ganglioside GM3 (d18:1(4E)) + N-acetyl-beta-D-galactosamine; Xref=Rhea:RHEA:47940, ChEBI:CHEBI:15377, ChEBI:CHEBI:28497, ChEBI:CHEBI:60065, ChEBI:CHEBI:71502; Evidence={ECO:0000269|PubMed:8123671, ECO:0000269|PubMed:8672428, ECO:0000269|PubMed:9694901};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ganglioside GM2 + H2O = ganglioside GM3 + N-acetyl-beta-D-galactosamine; Xref=Rhea:RHEA:47968, ChEBI:CHEBI:15377, ChEBI:CHEBI:28497, ChEBI:CHEBI:79210, ChEBI:CHEBI:79218; Evidence={ECO:0000269|PubMed:8123671, ECO:0000269|PubMed:8672428, ECO:0000269|PubMed:9694901};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-GalNAc-(1->4)-alpha-L-IdoA-(1->3)-beta-D-GalNAc-4-sulfate-(1->4)-alpha-L-IdoA-(1->3)-D-GalNAc-4-sulfate + H2O = alpha-L-IdoA-(1->3)-beta-D-GalNAc-4-sulfate-(1->4)-alpha-L-IdoA-(1->3)-D-GalNAc-4-sulfate + N-acetyl-D-galactosamine; Xref=Rhea:RHEA:64372, ChEBI:CHEBI:15377, ChEBI:CHEBI:28037, ChEBI:CHEBI:152565, ChEBI:CHEBI:152566; Evidence={ECO:0000269|PubMed:11707436};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acetyl-beta-D-6-sulfogalactosaminyl-(1->4)-alpha-L-iduronyl-(1->3)-N-acetyl-D-6-sulfogalactosamine = alpha-L-iduronyl-(1->3)-N-acetyl-D-6-sulfogalactosamine + N-acetyl-D-6-sulfogalactosamine; Xref=Rhea:RHEA:64384, ChEBI:CHEBI:15377, ChEBI:CHEBI:152567, ChEBI:CHEBI:152568, ChEBI:CHEBI:153064; Evidence={ECO:0000269|PubMed:11707436};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Addition of GM2A stimulates the hydrolysis of sulfated glycosphingolipid SM2 and the ganglioside GM2.
GENATLAS Biochemistry:
hexosaminidases A & B,beta polypeptide,lyposomal,hydrolyzing glycoproteins,glucosaminoglycans,glycolipids

Enzyme Numbers (IUBMB) for HEXB Gene

Phenotypes From GWAS Catalog for HEXB Gene

Gene Ontology (GO) - Molecular Function for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004563 beta-N-acetylhexosaminidase activity IEA,IDA 8123671
GO:0005515 protein binding IPI 16698036
GO:0008375 acetylglucosaminyltransferase activity IDA 25645918
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HEXB: view
genes like me logo Genes that share phenotypes with HEXB: view

Human Phenotype Ontology for HEXB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HEXB Gene

MGI Knock Outs for HEXB:
  • Hexb Hexb<tm1Grv>
  • Hexb Hexb<tm1Rlp>
  • Hexb Hexb<tm1b(EUCOMM)Hmgu>

miRNA for HEXB Gene

miRTarBase miRNAs that target HEXB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEXB

No data available for Transcription Factor Targets and HOMER Transcription for HEXB Gene

Localization for HEXB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXB Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEXB gene
Compartment Confidence
lysosome 5
extracellular 4
endoplasmic reticulum 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005764 lysosome IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with HEXB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEXB Gene

Pathways & Interactions for HEXB Gene

genes like me logo Genes that share pathways with HEXB: view

Gene Ontology (GO) - Biological Process for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process IEA,TAS --
GO:0006689 ganglioside catabolic process IEA,IDA 8123671
GO:0006874 cellular calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with HEXB: view

No data available for SIGNOR curated interactions for HEXB Gene

Drugs & Compounds for HEXB Gene

(12) Drugs for HEXB Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved, Investigational Nutra 0
Pyrimethamine Approved, Investigational, Vet_approved Pharma Target DHFR inhibitor, Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 178
Chondroitin sulfate Approved, Investigational Nutra Enzyme, substrate 0
Water Approved Pharma 0
(2R,3R,4S,5R)-2-acetamido-3,4-dihydroxy-5-hydroxymethyl-piperidine Experimental Pharma Target 0

(59) Additional Compounds for HEXB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(20:2(6Z,9Z))
  • LacCer(d18:1/16:0)
  • N-(Hexadecanoyl)-1-b-lactosyl-sphing-4-enine
  • 1-O-(4-O-b-D-Galactopyranosyl-b-D-glucopyranosyl)-ceramide
  • 1-O-(4-O-beta-D-Galactopyranosyl-beta-glucopyranosyl)ceramide
  • 1-O-(4-O-beta-D-Galactopyranosyl-beta-D-glucopyranosyl)-ceramide
4201-62-1, 77715-45-8
Chitobiose
  • CBS
  • Chitodextrin
  • Diacetylchitobiose
577-76-4
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
Ganglioside GA2 (d18:1/16:0)
  • N-[(2S,3R,4E)-1-{[(2R,4R,5S,6R)-5-{[(2S,3R,4R,5R,6R)-5-{[(2S,3R,4R,5R,6R)-4,5-dihydroxy-3-[(1-hydroxyethylidene)amino]-6-(hydroxymethyl)oxan-2-yl]oxy}-3,4-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}-3,4-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}-3-hydroxyoctadec-4-en-2-yl]hexadecanimidate
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
Ganglioside GA2 (d18:1/18:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside

(3) Tocris Compounds for HEXB Gene

Compound Action Cas Number
Flurofamide Urease inhibitor 70788-28-2
SCH 51344 Potent MTH1 inhibitor 171927-40-5
WWL 70 Potent ABHD6 inhibitor 947669-91-2

(1) ApexBio Compounds for HEXB Gene

Compound Action Cas Number
Flurofamide 70788-28-2
genes like me logo Genes that share compounds with HEXB: view

Drug products for research

Transcripts for HEXB Gene

mRNA/cDNA for HEXB Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEXB

Alternative Splicing Database (ASD) splice patterns (SP) for HEXB Gene

No ASD Table

Relevant External Links for HEXB Gene

GeneLoc Exon Structure for
HEXB

Expression for HEXB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HEXB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HEXB Gene

This gene is overexpressed in Islet of Langerhans (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HEXB Gene



Protein tissue co-expression partners for HEXB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEXB

SOURCE GeneReport for Unigene cluster for HEXB Gene:

Hs.69293

Evidence on tissue expression from TISSUES for HEXB Gene

  • Skin(4.6)
  • Liver(4.5)
  • Kidney(4.1)
  • Nervous system(3.9)
  • Lung(3.3)
  • Intestine(2.3)
  • Blood(2.3)
  • Heart(2.2)
  • Spleen(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HEXB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tongue
Thorax:
  • heart
  • heart valve
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • anus
  • pelvis
  • penis
  • prostate
  • rectum
  • urinary bladder
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with HEXB: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEXB Gene

Orthologs for HEXB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEXB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HEXB 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HEXB 30 31
  • 83.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HEXB 30
  • 81.08 (n)
-- 31
  • 72 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Hexb 30 17 31
  • 79.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hexb 30
  • 79.51 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia HEXB 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HEXB 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HEXB 30 31
  • 69.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HEXB 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hexb 30
  • 65.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii hexa 30
  • 62.33 (n)
hexb 31
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010056 30
  • 49.67 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Hexo2 31 32
  • 27 (a)
ManyToMany
Hexo1 31 32
  • 25 (a)
ManyToMany
fdl 31
  • 24 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea hex-1 30 31
  • 52.55 (n)
OneToMany
T14F9.3 32
  • 44 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons HEXO1 30
  • 47.9 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0115900 30
  • 49.23 (n)
Os.9285 30
Wheat
(Triticum aestivum)
Liliopsida Ta.20760 30
Corn
(Zea mays)
Liliopsida Zm.3467 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7268 31
  • 52 (a)
OneToMany
Species where no ortholog for HEXB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HEXB Gene

ENSEMBL:
Gene Tree for HEXB (if available)
TreeFam:
Gene Tree for HEXB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEXB: view image

Paralogs for HEXB Gene

Paralogs for HEXB Gene

(1) SIMAP similar genes for HEXB Gene using alignment to 6 proteins:

  • HEXB_HUMAN
  • D6REQ8_HUMAN
  • H0Y9B6_HUMAN
  • H0Y9M3_HUMAN
  • H0YA83_HUMAN
  • Q5URX0_HUMAN
genes like me logo Genes that share paralogs with HEXB: view

Variants for HEXB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEXB Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
836930 Likely Pathogenic: Sandhoff disease 74,715,692(+) T/C
NM_000521.4(HEXB):c.1082+2T>C
SPLICE_DONOR
841253 Pathogenic: Sandhoff disease 74,693,642(+) C/CTT
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs)
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
845142 Uncertain Significance: Sandhoff disease 74,721,141(+) T/C
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)
MISSENSE
849280 Pathogenic: Sandhoff disease 74,715,629(+) AGT/TCAAA
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs)
FRAMESHIFT
851972 Pathogenic: Sandhoff disease 74,718,846(+) A/AG
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HEXB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HEXB Gene

Variant ID Type Subtype PubMed ID
esv21716 CNV loss 19812545
esv2730312 CNV deletion 23290073
esv3570193 CNV loss 25503493
esv3605432 CNV loss 21293372
esv3605433 CNV loss 21293372
esv3605434 CNV loss 21293372
esv3605435 CNV gain 21293372
nsv1143136 CNV tandem duplication 24896259
nsv1152700 CNV duplication 26484159
nsv521024 CNV loss 19592680
nsv598652 CNV loss 21841781
nsv598653 CNV loss 21841781

Variation tolerance for HEXB Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEXB Gene

Human Gene Mutation Database (HGMD)
HEXB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEXB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEXB Gene

Disorders for HEXB Gene

MalaCards: The human disease database

(15) MalaCards diseases for HEXB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
sandhoff disease
  • gm2-gangliosidosis, type ii
gm2 gangliosidosis
  • gangliosidosis gm2
gangliosidosis
tay-sachs disease
  • tsd
lysosomal storage disease
  • disorder of lysosomal enzyme
- elite association - COSMIC cancer census association via MalaCards
Search HEXB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEXB_HUMAN
  • GM2-gangliosidosis 2 (GM2G2) [MIM:268800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. {ECO:0000269 PubMed:1531140, ECO:0000269 PubMed:1720305, ECO:0000269 PubMed:7557963, ECO:0000269 PubMed:7626071, ECO:0000269 PubMed:7633435, ECO:0000269 PubMed:8357844, ECO:0000269 PubMed:8950198, ECO:0000269 PubMed:9401004, ECO:0000269 PubMed:9694901, ECO:0000269 PubMed:9856491}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for HEXB Gene

Sandhoff disease;GM2 gangliosidosis II (HEXA & B deficiency)

Additional Disease Information for HEXB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HEXB: view

Publications for HEXB Gene

  1. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. (PMID: 8950198) Redonnet-Vernhet I … Levade T (Biochimica et biophysica acta 1996) 3 4 23 41
  2. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. (PMID: 1386607) McInnes B … Mahuran DJ (The Journal of clinical investigation 1992) 3 23 41 74
  3. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. (PMID: 16352452) Vallance H … Kaback M (Molecular genetics and metabolism 2006) 3 23 41
  4. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. (PMID: 12706724) Maier T … Saenger W (Journal of molecular biology 2003) 3 4 23
  5. Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. (PMID: 11447134) Schuette CG … Sandhoff K (Glycobiology 2001) 3 4 23

Products for HEXB Gene

Sources for HEXB Gene