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Aliases for HEXDC Gene

Aliases for HEXDC Gene

  • Hexosaminidase D 2 3 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
  • EC 4

External Ids for HEXDC Gene

Previous GeneCards Identifiers for HEXDC Gene

  • GC17P077971
  • GC17P080377
  • GC17P075774
  • GC17P080379
  • GC17P080382

Summaries for HEXDC Gene

GeneCards Summary for HEXDC Gene

HEXDC (Hexosaminidase D) is a Protein Coding gene. Among its related pathways are Other glycan degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-N-acetylhexosaminidase activity.

UniProtKB/Swiss-Prot for HEXDC Gene

  • Has hexosaminidase activity.

Additional gene information for HEXDC Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXDC Gene

Genomics for HEXDC Gene

GeneHancer (GH) Regulatory Elements for HEXDC Gene

Promoters and enhancers for HEXDC Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I082417 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 583.1 +0.8 801 2.7 ARNT ARID4B SIN3A ZNF48 ETS1 ELK1 ZNF207 ZNF143 ATF7 KLF13 HEXDC OGFOD3 ENSG00000201239 C17orf62 FOXK2 TEX19 UTS2R NARF SECTM1 ENSG00000262663
GH17I081508 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 29.4 -903.9 -903877 11.7 FEZF1 DMAP1 IRF4 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 ZNF610 ACTG1 FSCN2 ENSG00000229848 HGS ALYREF HEXDC FAAP100 ENSG00000265678 TEPSIN ENSG00000260563
GH17I081864 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 24.1 -549.4 -549375 8.9 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ARHGDIA ENSG00000262413 TBCD ENSG00000260563 FAAP100 NARF-IT1 TEPSIN ENSG00000262652 CSNK1D ENSG00000265678
GH17I082492 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 29.1 +77.2 77175 6 CLOCK ZFP64 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 GC17M082508 TRX-CAT1-8 PIR58219 TBCD NARF ENSG00000260563 GPS1 NARF-IT1 ENSG00000262652 FOXK2
GH17I081916 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.1 -495.7 -495739 13.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000264769 SIRT7 MAFG TBCD FAAP100 OGFOD3 HGS ENSG00000262663 HEXDC RFNG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEXDC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEXDC gene promoter:

Genomic Locations for HEXDC Gene

Genomic Locations for HEXDC Gene
24,328 bases
Plus strand

Genomic View for HEXDC Gene

Genes around HEXDC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HEXDC Gene

Proteins for HEXDC Gene

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

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

    Protein attributes for HEXDC Gene

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

    Alternative splice isoforms for HEXDC Gene


neXtProt entry for HEXDC Gene

Post-translational modifications for HEXDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HEXDC Gene

Domains & Families for HEXDC Gene

Gene Families for HEXDC Gene

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

Protein Domains for HEXDC Gene

Suggested Antigen Peptide Sequences for HEXDC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for HEXDC Gene

Molecular function for HEXDC Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by O-(2-acetamido-2-deoxy-D-glucopyranosylidene)amino N-phenylcarbamate (PUGNAc).
UniProtKB/Swiss-Prot Function:
Has hexosaminidase activity.

Enzyme Numbers (IUBMB) for HEXDC Gene

Phenotypes From GWAS Catalog for HEXDC Gene

Gene Ontology (GO) - Molecular Function for HEXDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004563 beta-N-acetylhexosaminidase activity IEA --
GO:0015929 hexosaminidase activity IDA 19040401
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0102148 N-acetyl-beta-D-galactosaminidase activity IEA --
genes like me logo Genes that share ontologies with HEXDC: view

Phenotypes for HEXDC Gene

genes like me logo Genes that share phenotypes with HEXDC: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for HEXDC Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXDC Gene

Cytoplasm. Nucleus.

Subcellular locations from

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 HEXDC gene
Compartment Confidence
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for HEXDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HEXDC: view

Pathways & Interactions for HEXDC Gene

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

Pathways by source for HEXDC Gene

2 KEGG pathways for HEXDC Gene

Interacting Proteins for HEXDC Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: Q8WVB3-HEXDC_HUMAN ENSP00000337854 for HEXDC Gene via IID STRING

Gene Ontology (GO) - Biological Process for HEXDC 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 HEXDC: view

No data available for SIGNOR curated interactions for HEXDC Gene

Drugs & Compounds for HEXDC Gene

(2) Drugs for HEXDC 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 HEXDC: view

Transcripts for HEXDC Gene

Unigene Clusters for HEXDC Gene

Hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - - - - -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7: - - - - -
SP10: -

Relevant External Links for HEXDC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEXDC Gene

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

Protein differential expression in normal tissues from HIPED for HEXDC Gene

This gene is overexpressed in Ovary (61.0).

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

NURSA nuclear receptor signaling pathways regulating expression of HEXDC Gene:


SOURCE GeneReport for Unigene cluster for HEXDC Gene:


Evidence on tissue expression from TISSUES for HEXDC Gene

  • Blood(4.1)
genes like me logo Genes that share expression patterns with HEXDC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEXDC Gene

Orthologs for HEXDC Gene

This gene was present in the common ancestor of animals.

Orthologs for HEXDC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HEXDC 33 34
  • 98.97 (n)
(Canis familiaris)
Mammalia HEXDC 33 34
  • 83.19 (n)
(Bos Taurus)
Mammalia HEXDC 33 34
  • 81.38 (n)
(Rattus norvegicus)
Mammalia Hexdc 33
  • 79.25 (n)
(Mus musculus)
Mammalia Hexdc 33 16 34
  • 78.59 (n)
(Monodelphis domestica)
Mammalia HEXDC 34
  • 58 (a)
(Ornithorhynchus anatinus)
Mammalia HEXDC 34
  • 50 (a)
(Gallus gallus)
Aves HEXDC 34
  • 52 (a)
(Anolis carolinensis)
Reptilia HEXDC 34
  • 35 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15445 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13505 33
(Danio rerio)
Actinopterygii hexdc 33 34
  • 54.09 (n)
wufj33c04 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004270 33
  • 53.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7985 33 34
  • 53.21 (n)
(Caenorhabditis elegans)
Secernentea hex-2 33 34
  • 46.69 (n)
hex-4 34
  • 26 (a)
hex-5 34
  • 26 (a)
hex-3 34
  • 24 (a)
Species where no ortholog for HEXDC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 HEXDC Gene

Gene Tree for HEXDC (if available)
Gene Tree for HEXDC (if available)

Paralogs for HEXDC Gene

No data available for Paralogs for HEXDC Gene

Variants for HEXDC Gene

Sequence variations from dbSNP and Humsavar for HEXDC Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1141463 benign, not specified 82,419,814(+) T/A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs4789773 benign, not specified 82,433,808(+) A/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs4789777 benign, not specified 82,436,654(+) G/A/T intron_variant
rs1000039022 -- 82,436,840(+) T/C intron_variant
rs1000108156 -- 82,424,136(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HEXDC Gene

Additional Disease Information for HEXDC

No disorders were found for HEXDC Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEXDC Gene

Publications for HEXDC Gene

  1. Mammalian cells contain a second nucleocytoplasmic hexosaminidase. (PMID: 19040401) Gutternigg M … Wilson IB (The Biochemical journal 2009) 2 3 4 22 58
  2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  3. HIV-1 Nef binds with human GCC185 protein and regulates mannose 6 phosphate receptor recycling. (PMID: 27105913) Kumar M … Tripathi RK (Biochemical and biophysical research communications 2016) 3 58
  4. Mechanism of Human Nucleocytoplasmic Hexosaminidase D. (PMID: 27149221) Alteen MG … Gloster TM (Biochemistry 2016) 3 58
  5. 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 58

Products for HEXDC Gene

Sources for HEXDC Gene

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