Aliases for HEXB Gene
Aliases for HEXB Gene
External Ids for HEXB Gene
- HGNC: 4879
- Entrez Gene: 3074
- Ensembl: ENSG00000049860
- OMIM: 606873
- UniProtKB: P07686
Previous GeneCards Identifiers for HEXB Gene
- GC05P072785
- GC05P074213
- GC05P074019
- GC05P074065
- GC05P074016
- GC05P069185
- GC05P073935
Summaries 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 Tay-Sachs Disease. Among its related pathways are Glycosaminoglycan metabolism and Keratan sulfate/keratin metabolism. 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 for HEXB Gene
-
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.
Additional gene information for HEXB Gene
- Monarch Initiative
- Search for HEXB at DataMed
- Search for HEXB at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXB Gene
Genomics for HEXB Gene
GeneHancer (GH) Regulatory Elements for HEXB Gene
Promoters and enhancers for HEXB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HEXB on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for HEXB Gene
Genomic Locations for HEXB Gene
- chr5:74,640,023-74,722,647
- (GRCh38/hg38)
- Size:
- 82,625 bases
- Orientation:
- Plus strand
- chr5:73,935,848-74,018,472
- (GRCh37/hg19)
Genomic View for HEXB Gene
Genes around HEXB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q13.3 by Ensembl
- 5q13.3 by Entrez Gene
- 5q13.3 by HGNC
HEXB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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 a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.
- SequenceCaution:
-
- Sequence=AAA51828.1; Type=Frameshift; Positions=21; Evidence={ECO:0000305}; Sequence=AAA68620.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression 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.
- Ubiquitination at posLast=465465
- Glycosylation at posLast=8484, posLast=142142, isoforms=190, and posLast=327327
Other Protein References for HEXB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HEXB
- Novus Biologicals Antibodies for HEXB
-
Abcam antibodies for HEXB
-
Cloud-Clone Corp. Antibodies for HEXB
- Invitrogen Antibodies for HEXB
- Search GeneTex for Antibodies for HEXB
-
Santa Cruz Biotechnology (SCBT) Antibodies for HEXB
- Sino Biological Antibodies for HEXB
Protein Products
- R&D Systems Proteins and Enzymes for HEXB (Hexosaminidase B/HEXB)
-
OriGene Purified Proteins for HEXB
- Search Origene for MassSpec and Protein Over-expression Lysates for HEXB
- Origene Custom Protein Services for HEXB
- Sino Biological Recombinant Proteins for HEXB
- Sino Biological Cell Lysates for HEXB
-
Cloud-Clone Corp. Proteins for HEXB
- Search GeneTex for Proteins for HEXB
-
Abcam proteins for HEXB
Assay Products
-
Cloud-Clone Corp. Assay Kits for HEXB
Domains & Families for HEXB Gene
Gene Families for HEXB Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for HEXB Gene
Suggested Antigen Peptide Sequences for HEXB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P07686- Family:
-
- Belongs to the glycosyl hydrolase 20 family.
Function for HEXB Gene
Molecular function for HEXB Gene
- GENATLAS Biochemistry:
- hexosaminidases A & B,beta polypeptide,lyposomal,hydrolyzing glycoproteins,glucosaminoglycans,glycolipids
- UniProtKB/Swiss-Prot CatalyticActivity:
- Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
- UniProtKB/Swiss-Prot Function:
- Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.
Enzyme Numbers (IUBMB) for HEXB Gene
Phenotypes From GWAS Catalog 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,TAS | -- |
| GO:0005515 | protein binding | IPI | 16698036 |
| GO:0008375 | acetylglucosaminyltransferase activity | IDA | 25645918 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for HEXB Gene
- MGI mutant phenotypes for HEXB:
-
inferred from 3 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for HEXB:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HEXB
-
-
ViGene Biosciences lentiviral particle packaged cDNA for HEXB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEXB gene
- Search ViGene Biosciences for HEXB
CRISPR Products
-
OriGene CRISPR knockouts for HEXB
- genomics-online: gRNA clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
- Applied Biological Materials CRISPR for HEXB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEXB
- GenScript: Design CRISPR guide RNA sequences for HEXB
miRNA for HEXB Gene
- miRTarBase miRNAs that target HEXB
miRNA Products
- Search ViGene Biosciences for HEXB
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HEXB
- Browse OriGene Inhibitory RNA Products For HEXB
- genomics-online: shRNA clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HEXB gene
Clone Products
- Sino Biological Human cDNA Clone for HEXB
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HEXB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HEXB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HEXB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HEXB
-
ViGene Biosciences adenoviral particle packaged cDNA for HEXB gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HEXB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEXB gene
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| lysosome | 5 |
| endoplasmic reticulum | 3 |
| 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 | HDA,IEA | 19946888 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEXB Gene
Pathways & Interactions for HEXB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosaminoglycan metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 5 | Sphingolipid metabolism | ||
Pathways by source for HEXB Gene
15 Reactome pathways for HEXB Gene
Interacting Proteins for HEXB Gene
Selected Interacting proteins:
ENSP00000261416
P07686-HEXB_HUMAN
for HEXB Gene via
STRING
UniProtKB
IID
MINT
| 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 | -- |
| GO:0006874 | cellular calcium ion homeostasis | IEA | -- |
No data available for SIGNOR curated interactions for HEXB Gene
Drugs & Compounds for HEXB Gene
| 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 | Inhibition, Inhibitor, Target | DHFR inhibitor | 161 | |
| Water | Approved | Pharma | 0 | |||
| (2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium | Experimental | Pharma | Target | 0 | ||
| 2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Chitobiose |
|
577-76-4 |
|
|||
| Ganglioside GA2 (d18:1/12:0) |
|
88506-68-7 |
|
|||
| Ganglioside GA2 (d18:1/16:0) |
|
88506-68-7 |
|
|||
| Ganglioside GA2 (d18:1/20:0) |
|
88506-68-7 |
|
|||
| Ganglioside GA2 (d18:1/24:0) |
|
88506-68-7 |
|
(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 |
Transcripts for HEXB Gene
mRNA/cDNA for HEXB Gene
- (2) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (676) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HEXB Gene
CRISPR Products
-
OriGene CRISPR knockouts for HEXB
- genomics-online: gRNA clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
- Applied Biological Materials CRISPR for HEXB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEXB
- GenScript: Design CRISPR guide RNA sequences for HEXB
miRNA Products
- Search ViGene Biosciences for HEXB
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HEXB
- Browse OriGene Inhibitory RNA Products For HEXB
- genomics-online: shRNA clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HEXB gene
Clone Products
- Sino Biological Human cDNA Clone for HEXB
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HEXB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HEXB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HEXB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for HEXB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
-
Ovary (Reproductive System)
- Ovarian Somatic Cells Ovigerous Cord
- Brain (Nervous System)
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Pancreas (Endocrine System)
-
Adipose (Muscoskeletal System)
This gene is overexpressed in Islet of Langerhans (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEXB Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HEXB Gene:
HEXBSOURCE GeneReport for Unigene cluster for HEXB Gene:
Hs.69293Evidence on tissue expression from TISSUES for HEXB Gene
- Skin(4.6)
- Liver(4.5)
- Kidney(4.1)
- Nervous system(3.8)
- Lung(3.3)
- Blood(2)
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
Primer Products
-
OriGene qPCR primer pairs for HEXB
-
OriGene qPCR primer pairs and template standards for HEXB
- genomics-online: primer clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEXB 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | HEXB 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HEXB 33 |
|
||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Hexb 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hexb 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HEXB 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | HEXB 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HEXB 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HEXB 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hexb 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hexa 33 |
|
||
| hexb 34 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010056 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Hexo2 35 34 |
|
||
| Hexo1 35 34 |
|
||||
| fdl 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | hex-1 33 34 |
|
||
| T14F9.3 35 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | HEXO1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0115900 33 |
|
||
| Os.9285 33 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.20760 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.3467 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7268 34 |
|
OneToMany |
- Species where no ortholog for HEXB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for HEXB Gene
Paralogs for HEXB Gene
(1) SIMAP similar genes for HEXB Gene using alignment to 6 proteins:
Variants for HEXB Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1005713328 | uncertain-significance, Sandhoff disease | 74,685,209(+) | C/A | 5_prime_UTR_variant, intron_variant | |
| rs1057518709 | uncertain-significance, Sandhoff disease | 74,685,532(+) | G/C | coding_sequence_variant, intron_variant, missense_variant | |
| rs1060499701 | pathogenic, Sandhoff disease | 74,685,559(+) | G/A/C | coding_sequence_variant, intron_variant, missense_variant | |
| rs10805890 | conflicting-interpretations-of-pathogenicity, benign, likely-benign, not specified, HEXB POLYMORPHISM, Sandhoff disease | 74,697,056(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs114661695 | likely-benign, uncertain-significance, not specified, Sandhoff disease | 74,715,659(+) | T/C | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv598653 | CNV | loss | 21841781 |
| nsv598652 | CNV | loss | 21841781 |
| nsv521024 | CNV | loss | 19592680 |
| nsv1152700 | CNV | duplication | 26484159 |
| nsv1143136 | CNV | tandem duplication | 24896259 |
| esv3605435 | CNV | gain | 21293372 |
| esv3605434 | CNV | loss | 21293372 |
| esv3605433 | CNV | loss | 21293372 |
| esv3605432 | CNV | loss | 21293372 |
| esv3570193 | CNV | loss | 25503493 |
| esv2730312 | CNV | deletion | 23290073 |
| esv21716 | CNV | loss | 19812545 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEXB Gene
Disorders for HEXB Gene
(9) MalaCards diseases for HEXB Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sandhoff disease |
|
|
| tay-sachs disease |
|
|
| mucolipidosis iv |
|
|
| gangliosidosis gm2 |
|
|
| lung abscess |
|
|
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 mutations 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 of Genetics and Cytogenetics in Oncology and Haematology
Publications for HEXB Gene
- 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 22 44 58
- 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 22 44 58
- 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 22 58
- 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 22 58
- A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. (PMID: 9694901) Hou Y … Mahuran D (The Journal of biological chemistry 1998) 3 4 22 58
Products for HEXB Gene
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for HEXB (Hexosaminidase B/HEXB)
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- Custom Antibody ServicesOriGene Antibodies for HEXB
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HEXB
- Search Origene for MassSpec and Protein Over-expression Lysates for HEXB
- Origene Custom Protein Services for HEXB
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HEXB
- Browse OriGene Inhibitory RNA Products For HEXB
- OriGene qPCR primer pairs and template standards for HEXB
- OriGene qPCR primer pairs for HEXB
- OriGene CRISPR knockouts for HEXB
- OriGene ORF clones in human for HEXB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HEXB
- GenScript: Next-day shipping of latest version cDNA ORF clones for HEXB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HEXB
- GenScript Custom Assay Services for HEXB
- GenScript Custom overexpressing Cell Line Services for HEXB
- GenScript: Design CRISPR guide RNA sequences for HEXB
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HEXB
- Sino Biological Human cDNA Clone for HEXB
- Sino Biological Cell Lysates for HEXB
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- Sino Biological Antibodies for HEXB
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- Novus Biologicals Antibodies for HEXB
- Novus Biologicals lysates and proteins for HEXB
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- Cloud-Clone Corp. Antibodies for HEXB
- Cloud-Clone Corp. Proteins for HEXB
- Cloud-Clone Corp. Assay Kits for HEXB
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for HEXB
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for HEXB
- Cyagen custom Knockout/knockin (KOKI) mouse models for HEXB
- VectorBuilder custom plasmid, inducible vectors for HEXB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HEXB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 54 available HEXB Antibodies ranked by validation data
- Compare Top HEXB Antibodies
- antibodies-online: Search results for 29 available HEXB Elisa Kits ranked by validation data
- Compare Top HEXB Elisa Kits
- antibodies-online: Search results for 16 available HEXB Proteins ranked by validation data
- Compare Top HEXB Proteins
- Search GeneTex for Antibodies for HEXB
- Search GeneTex for Proteins for HEXB
- ViGene Biosciences adenoviral particle packaged cDNA for HEXB gene
- ViGene Biosciences lentiviral particle packaged cDNA for HEXB gene
- ViGene Biosciences ready-to-package AAV shRNAs for HEXB gene
- Search ViGene Biosciences for HEXB
- Santa Cruz Biotechnology (SCBT) Antibodies for HEXB
- Search Santa Cruz Biotechnology (SCBT) for HEXB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HEXB
- Horizon Cell Lines for HEXB
- genomics-online: cdna clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
- orf clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
- genomics-online: gRNA clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
- genomics-online: primer clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
- genomics-online: shRNA clones - Search results for 128 available HEXB gene related products
- Overview of 128 available HEXB gene related products
Sources for HEXB Gene
- (1) GeneCards
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- (4) Swiss-Prot
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- (34) PanEnsembl
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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