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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 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.

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

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
GH17H082492 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21.7 +77.2 77175 6 ZFP64 FEZF1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC ZFP41 MEF2D TBCD HGS NARF ALYREF ENSG00000260563 GPS1 ARL2BPP9 FOXK2 NARF-IT1 ENSG00000262652
GH17H082281 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.7 -135.5 -135531 2.7 HDGF ARNT ZNF493 YBX1 GLI4 ZNF48 ZBTB7B GLIS2 ELK1 ZNF207 TBCD FAAP100 OGFOD3 ENSG00000260563 ENSG00000262877 NARF-IT1 ENSG00000262652 ENSG00000265678 ARL2BPP9 GPS1
GH17H081424 1.2 ENCODE dbSUPER 30.9 -993.5 -993543 0.2 HDGF YBX1 PLRG1 ZBTB7B ZNF155 YY2 ZNF114 ZIK1 ZNF488 ZNF662 OGFOD3 FAAP100 CEP131 ENSG00000262877 TEPSIN ENSG00000265678 HEXDC HGS ENSG00000260563 ENSG00000260369
GH17H082586 1.1 ENCODE dbSUPER 31.7 +168.1 168082 0.2 CHD4 ZNF266 BCL11B ZEB1 ZFHX2 GLIS2 POLR2A ZNF354C PATZ1 KLF8 TBCD HGS ENSG00000260563 ENSG00000265678 HEXDC NARF-IT1 OGFOD3 CSNK1D ENSG00000262652 DUS1L
GH17H081864 1.4 ENCODE dbSUPER 24.1 -549.4 -549375 8.9 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC PPARGC1A SSRP1 TBCD FAAP100 HGS ENSG00000265678 ENSG00000260563 NARF-IT1 TEPSIN CEP131 ENSG00000262652 CSNK1D
- 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 ARID4B SIN3A ELK1 ZNF143 ZNF207 ATF7 SP3 CEBPZ SP5

Genomic Locations for HEXDC Gene

Genomic Locations for HEXDC Gene
chr17:82,418,318-82,442,645
(GRCh38/hg38)
Size:
24,328 bases
Orientation:
Plus strand
chr17:80,376,194-80,400,521
(GRCh37/hg19)

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

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

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

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 --
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

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

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)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000337854%0d%0a9606.ENSP00000268097%0d%0a9606.ENSP00000261416%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

(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

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: - - - - -
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 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:

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

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 33 34
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia HEXDC 33 34
  • 83.19 (n)
cow
(Bos Taurus)
Mammalia HEXDC 33 34
  • 81.38 (n)
rat
(Rattus norvegicus)
Mammalia Hexdc 33
  • 79.25 (n)
mouse
(Mus musculus)
Mammalia Hexdc 33 16 34
  • 78.59 (n)
oppossum
(Monodelphis domestica)
Mammalia HEXDC 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEXDC 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEXDC 34
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXDC 34
  • 35 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13505 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15445 33
zebrafish
(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)
worm
(Caenorhabditis elegans)
Secernentea hex-2 33 34
  • 46.69 (n)
hex-4 34
  • 26 (a)
OneToMany
hex-5 34
  • 26 (a)
OneToMany
hex-3 34
  • 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
nsv833574 CNV gain 17160897
nsv828143 CNV loss 20364138
nsv472683 CNV novel sequence insertion 20440878
nsv469561 CNV loss 16826518
nsv428351 CNV gain 18775914
nsv1160502 CNV deletion 26073780
nsv1067194 CNV gain 25217958
nsv1067160 CNV loss 25217958
nsv1062980 CNV gain 25217958
esv3641424 CNV gain 21293372
esv2762577 CNV gain+loss 21179565
esv2760445 CNV gain 21179565
esv21913 CNV gain+loss 19812545

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 IB (The Biochemical journal 2009) 2 3 4 22 60
  2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 60
  3. Mechanism of Human Nucleocytoplasmic Hexosaminidase D. (PMID: 27149221) Alteen MG … Gloster TM (Biochemistry 2016) 3 60
  4. 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 60
  5. Are recently reported biomarkers helpful for early and accurate diagnosis of acute kidney injury? (PMID: 22515481) Barrera-Chimal J … Bobadilla NA (Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2012) 3 60

Products for HEXDC Gene

Sources for HEXDC Gene

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