Free for academic non-profit institutions. Other users need a Commercial license

HEXDC Gene(Protein Coding)

Hexosaminidase D

GCID:
GC17P082418
GIFtS:
45
Genes Participants
UDN Logo

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 3.2.1.52 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 Metabolism and 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXDC Gene

Genomics for HEXDC Gene

Products:

  1. Regulatory Element

Regulatory Elements for HEXDC Gene

Enhancers for HEXDC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G082417 1 ENCODE 33.1 +0.8 802 2.7 ARNT CREB3L1 ARID4B SIN3A ZNF143 ZNF207 SP3 CEBPZ SP5 ZHX2 HEXDC OGFOD3 C17orf62 ENSG00000262049 TEX19 UTS2R NARF SECTM1 ENSG00000262663 CSNK1D
GH17G082095 2.1 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -316.5 -316509 13.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 CCDC57 ARL16 DCXR TSPAN10 ENSG00000262049 RFNG DUS1L HEXDC GCGR OXLD1
GH17G082857 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +441.3 441337 3.5 HDGF PKNOX1 SIN3A FOS ZHX2 ZNF592 ZNF579 MEF2D NBN NR2C1 FN3KRP RAB40B LOC101929552 HEXDC NARF C17orf62 TBCD METRNL ZNF750 GC17P082883
GH17G082492 2.1 FANTOM5 Ensembl ENCODE dbSUPER 5 +77.2 77175 6.0 CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 NARF ENSG00000262049 HGS ENSG00000262652 ARL2BPP9 ALYREF NARF-IT1 RFNG ENSG00000265678 OGFOD3
GH17G082200 1.5 FANTOM5 ENCODE dbSUPER 6.3 -217.4 -217404 1.8 HDAC1 HDGF TBP PKNOX1 TBL1XR1 ARNT NFRKB ZBTB40 TCF12 ELK1 CCDC57 HGS NARF-IT1 ACTG1 TEPSIN ENSG00000262049 ARHGDIA ALYREF CD7 HEXDC
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000099610 682 1601 ARNT CREB3L1 ARID4B SIN3A ZNF143 ZNF207 SP3 CEBPZ SP5 ZHX2

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

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 Structure • Gene Density

RefSeq DNA sequence for HEXDC Gene

Proteins for HEXDC Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HEXDC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HEXDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEXDC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEXDC Gene

Domains & Families for HEXDC Gene

Protein Domains for HEXDC Gene

InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

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 --
genes like me logo Genes that share ontologies with HEXDC: view

Phenotypes for HEXDC Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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

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

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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000337854%0d%0a9606.ENSP00000261416%0d%0a9606.ENSP00000268097%0d%0a
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

Products:

  1. Drug

(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 Nutra 0
genes like me logo Genes that share compounds with HEXDC: view

Transcripts for HEXDC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HEXDC Gene

(9) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEXDC Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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: - - - - -
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

Products:

  1. Primer

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

mRNA expression in normal human tissues for HEXDC Gene
mRNA expression by BioGPS for HEXDC GenemRNA expression by GTEx 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:

HEXDC

SOURCE GeneReport for Unigene cluster for HEXDC Gene:

Hs.744207

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
chimpanzee
(Pan troglodytes)
 Mammalia HEXDC 34 35
  • 98.97 (n)
dog
(Canis familiaris)
 Mammalia HEXDC 34 35
  • 83.19 (n)
cow
(Bos Taurus)
 Mammalia HEXDC 34 35
  • 81.38 (n)
rat
(Rattus norvegicus)
 Mammalia Hexdc 34
  • 79.25 (n)
mouse
(Mus musculus)
 Mammalia Hexdc 34 16 35
  • 78.59 (n)
oppossum
(Monodelphis domestica)
 Mammalia HEXDC 35
  • 58 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HEXDC 35
  • 50 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HEXDC 35
  • 52 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HEXDC 35
  • 35 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.15445 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.13505 34
zebrafish
(Danio rerio)
 Actinopterygii hexdc 34 35
  • 54.09 (n)
wufj33c04 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004270 34
  • 53.98 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG7985 34 35
  • 53.21 (n)
worm
(Caenorhabditis elegans)
 Secernentea hex-2 34 35
  • 46.69 (n)
hex-4 35
  • 26 (a)
 OneToMany
hex-5 35
  • 26 (a)
 OneToMany
hex-3 35
  • 24 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for HEXDC (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000039022 -- 82,436,840(+) GAGCC(C/T)GCACG intron-variant
rs1000108156 -- 82,424,136(+) CCCAA(A/G)CTGAG intron-variant, upstream-variant-2KB
rs1000166782 -- 82,430,690(+) AGCCC(A/G)GTATA intron-variant
rs1000344989 -- 82,429,453(+) TGGGC(A/G)TGCCA intron-variant
rs1000400317 -- 82,438,979(+) GCCTT(C/T)GCCTG intron-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)

Relevant External Links for HEXDC Gene

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

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

Disorders for HEXDC Gene

Relevant External Links for HEXDC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 I.B. (Biochem. J. 2009) 2 3 4 22 64
  2. Mechanism of Human Nucleocytoplasmic Hexosaminidase D. (PMID: 27149221) Alteen M.G. … Gloster T.M. (Biochemistry 2016) 3 64
  3. 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 64
  4. 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 64
  5. 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 64

Products for HEXDC Gene

Sources for HEXDC Gene

Content
Loading form....