Aliases for HEXD Gene

Aliases for HEXD Gene

  • Hexosaminidase D 2 3 4 5
  • Hexosaminidase (Glycosyl Hydrolase Family 20, Catalytic Domain) Containing 2 3
  • Hexosaminidase Domain-Containing Protein 3 4
  • N-Acetyl-Beta-Galactosaminidase 3 4
  • Hexosaminidase D, Cytosolic 2 3
  • Beta-N-Acetylhexosaminidase 3 4
  • Beta-Hexosaminidase D 3 4
  • HEXDC 3 4
  • EC 3.2.1.52 4
  • FLJ23825 2
  • HEXD 5

External Ids for HEXD Gene

Previous HGNC Symbols for HEXD Gene

  • HEXDC

Summaries for HEXD Gene

GeneCards Summary for HEXD Gene

HEXD (Hexosaminidase D) is a Protein Coding gene. Diseases associated with HEXD include Sandhoff Disease and Tay-Sachs Disease. Among its related pathways are N-Glycan biosynthesis and Other glycan degradation.

UniProtKB/Swiss-Prot Summary for HEXD Gene

  • Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed:27149221).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEXD Gene

Genomics for HEXD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HEXD 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
GH17J082417 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 283 +0.7 671 2.9 SP1 ZNF207 ZNF600 MYC SIX5 ZNF592 CEBPA ZNF10 POLR2A MXD4 HEXD OGFOD3 ENSG00000201239 HSALNG0119433 lnc-C17orf62-5 ALYREF NARF NPLOC4 ENSG00000262147 CYBC1
GH17J081864 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 55.6 -549.4 -549375 8.9 BCLAF1 SP1 ZNF207 MYC IKZF1 NCOR1 ZNF600 SSRP1 JUND ZNF592 ARHGDIA ENSG00000262413 HSALNG0119323 HSALNG0119324 lnc-ARHGDIA-1 TBCD FAAP100 ENSG00000265678 HGS NARF-IT1
GH17J081507 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 41.4 -904.2 -904218 12.4 BCLAF1 SP1 ZNF207 ZNF600 MYC SSRP1 JUND ZNF580 ZNF592 KLF9 ACTG1 FSCN2 ENSG00000229848 HSALNG0119278 lnc-FAAP100-1 piR-57089 FAAP100 HEXD OGFOD3 ENSG00000265678
GH17J082291 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 35.1 -119.7 -119685 14.7 SP1 ZNF207 IKZF1 MYC ZNF600 SSRP1 JUND ZNF592 ZMYM3 KLF9 HSALNG0119406 HSALNG0119407 LINC01970 CSNK1D TBCD FAAP100 ENSG00000260563 NARF-IT1 DUS1L ENSG00000265678
GH17J082227 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 33.6 -187.6 -187648 6.4 BCLAF1 ZNF207 MYC IKZF1 SSRP1 ZNF592 ZMYM3 KLF9 POLR2A CEBPA SLC16A3 lnc-TEX19-2 CCDC57 FAAP100 TBCD HGS HEXD ENSG00000265678 NARF-IT1 RFNG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for HEXD Gene

Latest Assembly
chr17:82,418,318-82,442,645
(GRCh38/hg38)
Size:
24,328 bases
Orientation:
Plus strand

Previous Assembly
chr17:80,376,223-80,400,521
(GRCh37/hg19 by Entrez Gene)
Size:
24,299 bases
Orientation:
Plus strand

chr17:80,376,194-80,400,521
(GRCh37/hg19 by Ensembl)
Size:
24,328 bases
Orientation:
Plus strand

Genomic View for HEXD Gene

Genes around HEXD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HEXD Gene

Proteins for HEXD Gene

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

    Protein Symbol:
    Q8WVB3-HEXD_HUMAN
    Recommended name:
    Hexosaminidase D
    Protein Accession:
    Q8WVB3
    Secondary Accessions:
    • B7UUP6
    • Q8IYN4
    • Q8TE81

    Protein attributes for HEXD Gene

    Size:
    486 amino acids
    Molecular mass:
    53790 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • Sequence=AAH18205.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH35561.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB85072.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HEXD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEXD Gene

Post-translational modifications for HEXD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HEXD Gene

Domains & Families for HEXD Gene

Gene Families for HEXD Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HEXD Gene

Suggested Antigen Peptide Sequences for HEXD Gene

GenScript: Design optimal peptide antigens:
  • N-acetyl-beta-galactosaminidase (HEXDC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WVB3

UniProtKB/Swiss-Prot:

HEXD_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 HEXD: view

Function for HEXD Gene

Molecular function for HEXD Gene

UniProtKB/Swiss-Prot Function:
Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed:27149221).
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:23099419, ECO:0000269|PubMed:27149221};.
UniProtKB/Swiss-Prot Induction:
Expression is inhibited by TGFB1.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.0721 mM for 4-nitrophenyl N-acetylgalactosamine (PNP-GalNAc) {ECO:0000269|PubMed:27149221}; KM=0.607 mM for 4-nitrophenyl-N-acetylglucosamine (PNP-GlcNAc) {ECO:0000269|PubMed:27149221}; KM=0.172 mM for 3-fluoro-4-nitrophenyl-N-acetylgalactosamine (3F4NP-GalNAc) {ECO:0000269|PubMed:27149221}; KM=0.852 mM for 3-fluoro-4-nitrophenyl-N-acetylglucosamine (3F4NP-GlcNAc) {ECO:0000269|PubMed:27149221}; Note=Kcats are 79.3 min(-1), 30.4 min(-1), 122 min(-1) and 92.4 min(-1) for PNP-GalNAc, PNP-GlcNAc, 3F4NP-GalNAc and 3F4NP-GlcNAc, respectively. {ECO:0000269|PubMed:27149221}; pH dependence: Optimum pH is 6.7. {ECO:0000269|PubMed:27149221};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by O-(2-acetamido-2-deoxy-D-glucopyranosylidene)amino N-phenylcarbamate (PUGNAc) (By similarity). Inhibited by galacto-NAG-thiazoline (PubMed:27149221).

Enzyme Numbers (IUBMB) for HEXD Gene

Phenotypes From GWAS Catalog for HEXD Gene

Gene Ontology (GO) - Molecular Function for HEXD 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 23099419
GO:0015929 hexosaminidase activity IEA,IDA 19040401
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with HEXD: view
genes like me logo Genes that share phenotypes with HEXD: view

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HEXD Gene

Localization for HEXD Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXD Gene

Cytoplasm. Nucleus. Extracellular vesicle.

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 HEXD gene
Compartment Confidence
extracellular 5
nucleus 4
mitochondrion 2
lysosome 2
plasma membrane 1
cytoskeleton 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEXD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:1903561 extracellular vesicle IDA 23099419
genes like me logo Genes that share ontologies with HEXD: view

Pathways & Interactions for HEXD Gene

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

Pathways by source for HEXD Gene

Interacting Proteins for HEXD Gene

Gene Ontology (GO) - Biological Process for HEXD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with HEXD: view

No data available for SIGNOR curated interactions for HEXD Gene

Drugs & Compounds for HEXD Gene

(2) Drugs for HEXD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
N-Acetyl-D-glucosamine Approved, Investigational Nutra 0
genes like me logo Genes that share compounds with HEXD: view

Transcripts for HEXD Gene

mRNA/cDNA for HEXD Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
17 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 HEXD

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

No ASD Table

Relevant External Links for HEXD Gene

GeneLoc Exon Structure for
HEXD

Expression for HEXD Gene

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

SOURCE GeneReport for Unigene cluster for HEXD Gene:

Hs.744207

mRNA Expression by UniProt/SwissProt for HEXD Gene:

Q8WVB3-HEXD_HUMAN
Tissue specificity: Expressed in synovial fibroblasts and synovial membranes.

Evidence on tissue expression from TISSUES for HEXD Gene

  • Blood(4.2)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEXD Gene

Orthologs for HEXD Gene

This gene was present in the common ancestor of animals.

Orthologs for HEXD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HEXDC 29 30
  • 98.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HEXDC 29 30
  • 83.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HEXDC 29 30
  • 81.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hexdc 29
  • 79.25 (n)
Mouse
(Mus musculus)
Mammalia Hexdc 29 16 30
  • 78.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HEXDC 30
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HEXDC 30
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HEXDC 30
  • 52 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HEXDC 30
  • 35 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13505 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.15445 29
Zebrafish
(Danio rerio)
Actinopterygii hexdc 29 30
  • 54.09 (n)
OneToOne
wufj33c04 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004270 29
  • 53.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7985 29 30
  • 53.21 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea hex-2 29 30
  • 46.69 (n)
OneToMany
hex-4 30
  • 26 (a)
OneToMany
hex-5 30
  • 26 (a)
OneToMany
hex-3 30
  • 24 (a)
OneToMany
Species where no ortholog for HEXD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Corn (Zea mays)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HEXD Gene

ENSEMBL:
Gene Tree for HEXD (if available)
TreeFam:
Gene Tree for HEXD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEXD: view image
Alliance of Genome Resources:
Additional Orthologs for HEXD

Paralogs for HEXD Gene

No data available for Paralogs for HEXD Gene

Variants for HEXD Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1141463 Benign: not specified 82,419,814(+) T/G
NM_001330542.2(HEXD):c.15T>G (p.Thr5=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs4789773 Benign: not specified 82,433,808(+) A/Gp.Ile145Val
NM_001330542.2(HEXD):c.433A>G (p.Ile145Val)
MISSENSE
rs4789777 Benign: not specified 82,436,654(+) G/T
NM_001330542.2(HEXD):c.632-13G>T
INTRON
rs17853433 -- p.His232Tyr

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

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
esv2760445 CNV gain 21179565
esv2762577 CNV gain+loss 21179565
esv3641424 CNV gain 21293372
nsv1062980 CNV gain 25217958
nsv1067160 CNV loss 25217958
nsv1067194 CNV gain 25217958
nsv1160502 CNV deletion 26073780
nsv428351 CNV gain 18775914
nsv469561 CNV loss 16826518
nsv472683 CNV novel sequence insertion 20440878
nsv828143 CNV loss 20364138
nsv833574 CNV gain 17160897

Variation tolerance for HEXD Gene

Residual Variation Intolerance Score: 93.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEXD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEXD
Leiden Open Variation Database (LOVD)
HEXD

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

Disorders for HEXD Gene

MalaCards: The human disease database

(3) MalaCards diseases for HEXD Gene - From: COP

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

Additional Disease Information for HEXD

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HEXD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEXD Gene

Publications for HEXD Gene

  1. Mammalian cells contain a second nucleocytoplasmic hexosaminidase. (PMID: 19040401) Gutternigg M … Wilson IB (The Biochemical journal 2009) 2 3 4 22
  2. Mechanism of Human Nucleocytoplasmic Hexosaminidase D. (PMID: 27149221) Alteen MG … Gloster TM (Biochemistry 2016) 3 4
  3. The recently identified hexosaminidase D enzyme substantially contributes to the elevated hexosaminidase activity in rheumatoid arthritis. (PMID: 23099419) Pásztói M … Buzás EI (Immunology letters 2013) 3 4
  4. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. (PMID: 29449217) Noguchi A … Kawahara H (Biology open 2018) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for HEXD Gene

Sources for HEXD Gene