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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.

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 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
GH17F082417 0.6 ENCODE 33.1 +0.8 802 2.7 CREB3L1 ARID4B SIN3A ZNF48 ZNF143 ZNF207 ZMIZ1 CEBPZ SP3 YY2 HEXDC OGFOD3 ALYREF NPLOC4 LOC105371942 C17orf62 ENSG00000262049 TEX19 UTS2R NARF
GH17F082438 0.9 Ensembl ENCODE 7.2 +23.8 23804 7.5 CTCF MAX KLF17 ZIC2 ZEB1 HIC1 ZNF121 GATA3 ZFHX2 POLR2A NARF TEX19 C17orf62 CSNK1D SECTM1 HEXDC HEXDC-IT1
GH17F082398 1.1 Ensembl ENCODE 6.5 -18.1 -18081 3.1 KLF1 SIN3A KLF17 MAX ZIC2 ZBTB40 POLR2A EED ETV6 MAFK UTS2R SECTM1 OGFOD3 TEX19 CSNK1D C17orf62 WDR45B HEXDC GC17M082397 LOC102723806
GH17F082200 1.5 FANTOM5 Ensembl ENCODE 6.3 -217.4 -217404 1.8 TBP TBL1XR1 NFRKB ZBTB40 CREM SMARCA5 ZBTB11 GTF2B ZEB2 REST CCDC57 ENSG00000262049 HGS ENSG00000263321 NARF-IT1 ACTG1 TEPSIN ARL16 ARHGDIA ALYREF
GH17F082857 1.6 FANTOM5 Ensembl ENCODE 5.6 +441.4 441429 3.7 HDGF ELF3 PKNOX1 NFRKB SIN3A RAD21 EGR1 SCRT2 RCOR1 FOS FN3KRP RAB40B LOC101929552 HEXDC NARF C17orf62 TBCD METRNL ZNF750 GC17P082883
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001355699 482 2401 CREB3L1 ARID4B SIN3A ZNF48 ZNF143 ZNF207 ZMIZ1 CEBPZ SP3 YY2

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

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

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

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
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

Gene Ontology (GO) - Cellular Components for HEXDC Gene

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

Pathways & Interactions for HEXDC Gene

SuperPathways 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

Gene Ontology (GO) - Biological Process for HEXDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA,IBA --
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:

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 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
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 and mRNA Expression by UniProt/SwissProt 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
rs10591650 -- 82,437,641(+) TGTGT(-/GTGTGTGT)CTTGC intron-variant
rs111280030 -- 82,420,756(+) AGAGA(C/T)GGGGT intron-variant
rs111344428 -- 82,430,440(+) CTGGA(A/G)TGTAG intron-variant
rs111348631 -- 82,441,292(+) CAGGT(A/G)TGGGT intron-variant, downstream-variant-500B
rs111406470 -- 82,442,395(+) GAGCT(C/T)ATGCC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime

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. 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
  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 64
  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 64
  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 64

Products for HEXDC Gene

Sources for HEXDC Gene

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