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Aliases for HEXDC Gene

Aliases for HEXDC Gene

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

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. Diseases associated with HEXDC include gangliosidosis gm2 and mannosidosis, alpha-, types i and ii. Among its related pathways are Other glycan degradation. 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.

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

Genomics for HEXDC Gene

Regulatory Elements for HEXDC Gene

Enhancers for HEXDC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HEXDC on UCSC Golden Path with GeneCards custom track

Promoters for HEXDC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HEXDC on UCSC Golden Path with GeneCards custom track

Genomic Location for HEXDC Gene

Chromosome:
17
Start:
82,418,318 bp from pter
End:
82,442,645 bp from pter
Size:
24,328 bases
Orientation:
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:
    Q8WVB3-HEXDC_HUMAN
    Recommended name:
    Hexosaminidase D
    Protein Accession:
    Q8WVB3
    Secondary Accessions:
    • B7UUP6
    • Q8IYN4
    • Q8TE81

    Protein attributes for HEXDC Gene

    Size:
    486 amino acids
    Molecular mass:
    53790 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for HEXDC Gene

Proteomics data for HEXDC Gene at MOPED

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

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

Q8WVB3

UniProtKB/Swiss-Prot:

HEXDC_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 HEXDC: view

No data available for Gene Families for HEXDC Gene

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 for HEXDC Gene

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for HEXDC Gene COMPARTMENTS Subcellular localization image for HEXDC gene
Compartment Confidence
nucleus 4
lysosome 2
mitochondrion 2
vacuole 2
cytosol 1
extracellular 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for HEXDC Gene

Pathways & Interactions for HEXDC Gene

SuperPathways for HEXDC Gene

Superpath Contained pathways
1 Other glycan degradation
genes like me logo Genes that share pathways with HEXDC: view

Pathways by source for HEXDC Gene

1 KEGG pathway for HEXDC Gene

Interacting Proteins for HEXDC Gene

Gene Ontology (GO) - Biological Process for HEXDC Gene

None

No data available for SIGNOR curated interactions for HEXDC Gene

Drugs & Compounds for HEXDC Gene

(1) Drugs for HEXDC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra 0

(1) Additional Compounds for HEXDC Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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: - - - - -
SP2:
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7: - - - - -
SP8:
SP9:
SP10: -

Relevant External Links for HEXDC Gene

GeneLoc Exon Structure for
HEXDC
ECgene alternative splicing isoforms for
HEXDC

Expression for HEXDC Gene

mRNA expression in normal human tissues 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 and MOPED for HEXDC Gene



SOURCE GeneReport for Unigene cluster for HEXDC Gene Hs.744207

genes like me logo Genes that share expression patterns with HEXDC: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia HEXDC 35
  • 81.38 (n)
  • 80.23 (a)
HEXDC 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEXDC 35
  • 83.19 (n)
  • 82.34 (a)
HEXDC 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hexdc 35
  • 78.59 (n)
  • 79.44 (a)
Hexdc 16
Hexdc 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HEXDC 35
  • 98.97 (n)
  • 98.31 (a)
HEXDC 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hexdc 35
  • 79.25 (n)
  • 78.31 (a)
oppossum
(Monodelphis domestica)
Mammalia HEXDC 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEXDC 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEXDC 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXDC 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15445 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13505 35
zebrafish
(Danio rerio)
Actinopterygii hexdc 35
  • 54.09 (n)
  • 50.88 (a)
wufj33c04 35
hexdc 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004270 35
  • 53.98 (n)
  • 50.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7985 35
  • 53.21 (n)
  • 49.53 (a)
CG7985 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hex-2 35
  • 46.69 (n)
  • 39.1 (a)
hex-2 36
  • 23 (a)
OneToMany
hex-3 36
  • 24 (a)
OneToMany
hex-4 36
  • 26 (a)
OneToMany
hex-5 36
  • 26 (a)
OneToMany
Species with no ortholog for HEXDC:
  • 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

ENSEMBL:
Gene Tree for HEXDC (if available)
TreeFam:
Gene Tree for HEXDC (if available)

Paralogs for HEXDC Gene

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

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 Sequence Context AA Info Type
rs4789773 - 82,433,808(+) TGCAC(A/C/G)TCGGG nc-transcript-variant, reference, missense
rs17853433 - 82,436,729(+) ATGTG(C/T)ACGGC nc-transcript-variant, reference, missense
rs4072532 -- 82,436,204(-) CAGAG(C/T)GAGCA intron-variant
rs2379233 -- 82,439,892(-) CAGGC(C/T)CAGCC intron-variant, nc-transcript-variant
rs2379234 -- 82,438,925(-) GCGCC(A/G)CTGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428351 CNV Gain 18775914
dgv3332n71 CNV Loss 21882294
nsv909134 CNV Loss 21882294
esv21913 CNV Gain+Loss 19812545
dgv3341n71 CNV Loss 21882294
dgv3353n71 CNV Loss 21882294
dgv3354n71 CNV Loss 21882294
nsv469561 CNV Complex 16826518
nsv909217 CNV Loss 21882294
nsv909223 CNV Loss 21882294
nsv909227 CNV Loss 21882294
nsv909228 CNV Gain 21882294
nsv909229 CNV Loss 21882294
dgv3360n71 CNV Loss 21882294
nsv909231 CNV Loss 21882294
nsv828143 CNV Loss 20364138
nsv833574 CNV Gain 17160897
dgv3361n71 CNV Loss 21882294
dgv3362n71 CNV Loss 21882294

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)

Relevant External Links for HEXDC Gene

HapMap Linkage Disequilibrium report
HEXDC
Human Gene Mutation Database (HGMD)
HEXDC

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

Disorders for HEXDC Gene

MalaCards: The human disease database

(5) MalaCards diseases for HEXDC Gene - From: DISEASES

Disorder Aliases PubMed IDs
gangliosidosis gm2
  • gm>2< gangliosidosis
mannosidosis, alpha-, types i and ii
  • alpha-mannosidosis
tay-sachs disease
  • gm2-gangliosidosis, several forms
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
gangliosidosis
  • mucolipidosis type iv
- elite association - COSMIC cancer census association via MalaCards
Search HEXDC in MalaCards View complete list of genes associated with diseases

Relevant External Links for HEXDC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEXDC
genes like me logo Genes that share disorders with HEXDC: view

No data available for 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 I.B. (Biochem. J. 2009) 2 3 4 23 67
  2. The recently identified hexosaminidase D enzyme substantially contributes to the elevated hexosaminidase activity in rheumatoid arthritis. (PMID: 23099419) PA!sztA^i M. … BuzA!s E.I. (Immunol. Lett. 2013) 3
  3. Are recently reported biomarkers helpful for early and accurate diagnosis of acute kidney injury? (PMID: 22515481) Barrera-Chimal J. … Bobadilla N.A. (Biomarkers 2012) 3
  4. Urinary proteins, N-acetyl-I^-D-glucosaminidase activity and estimated glomerular filtration rate in hypertensive patients with normoalbuminuria and microalbuminuria. (PMID: 21265931) Lisowska-Myjak B. … Gaciong Z. (Nephrology (Carlton) 2011) 3
  5. Assessment of urinary N-acetyl-I^-glucosaminidase as an early marker of contrast-induced nephropathy. (PMID: 21672370) Ren L. … Ding X.Q. (J. Int. Med. Res. 2011) 3

Products for HEXDC Gene

Sources for HEXDC Gene

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