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Aliases for HYAL2 Gene

Aliases for HYAL2 Gene

  • Hyaluronoglucosaminidase 2 2 3 5
  • Lung Carcinoma Protein 2 3 4
  • Lysosomal Hyaluronidase 2 3
  • PH-20 Homolog 2 3
  • EC 4 56
  • Hyal-2 3 4
  • LUCA2 3 4
  • Hyaluronoglucosaminidase-2 4
  • Hyaluronidase 2 2
  • Hyaluronidase-2 3
  • PH20 Homolog 3
  • LuCa-2 4

External Ids for HYAL2 Gene

Previous GeneCards Identifiers for HYAL2 Gene

  • GC03P049626
  • GC03P049796
  • GC03M050209
  • GC03M050314
  • GC03M050330
  • GC03M050355

Summaries for HYAL2 Gene

Entrez Gene Summary for HYAL2 Gene

  • This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]

GeneCards Summary for HYAL2 Gene

HYAL2 (Hyaluronoglucosaminidase 2) is a Protein Coding gene. Diseases associated with HYAL2 include Cor Triatriatum Sinister and Cor Triatriatum. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and virus receptor activity. An important paralog of this gene is HYAL4.

UniProtKB/Swiss-Prot for HYAL2 Gene

  • Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R.

Gene Wiki entry for HYAL2 Gene

Additional gene information for HYAL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYAL2 Gene

Genomics for HYAL2 Gene

GeneHancer (GH) Regulatory Elements for HYAL2 Gene

Promoters and enhancers for HYAL2 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
GH03I050154 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4 +159.1 159097 18.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 FOS SEMA3F RBM6 RBM5 MON1A GNAI2 HYAL3 CYB561D2 CCDC36 MAPKAPK3 KLHDC8B
GH03I050327 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 0.4 -5.1 -5131 2 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 IRF4 ZNF48 YY1 TUSC2 NAT6 HYAL3 HYAL1 MST1 HYAL2
GH03I050316 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.4 +5.2 5231 3.2 HDGF SREBF2 KLF17 SIN3A ZBTB40 RARA ZNF335 GLIS2 ATF7 FOS GC03M050318 GC03M050319 HYAL1 CYB561D2 MST1R HYAL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HYAL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HYAL2 gene promoter:

Genomic Locations for HYAL2 Gene

Genomic Locations for HYAL2 Gene
5,117 bases
Minus strand

Genomic View for HYAL2 Gene

Genes around HYAL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYAL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HYAL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYAL2 Gene

Proteins for HYAL2 Gene

  • Protein details for HYAL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3KRZ2
    • O15177
    • Q9BW29

    Protein attributes for HYAL2 Gene

    473 amino acids
    Molecular mass:
    53860 Da
    Quaternary structure:
    • Interacts with MST1R.
    • Sequence=AAC28656.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for HYAL2 Gene

Selected DME Specific Peptides for HYAL2 Gene


Post-translational modifications for HYAL2 Gene

  • Glycosylation at posLast=7474, posLast=103103, and isoforms=357
  • Modification sites at PhosphoSitePlus

Domains & Families for HYAL2 Gene

Gene Families for HYAL2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 56 family.
  • Belongs to the glycosyl hydrolase 56 family.
genes like me logo Genes that share domains with HYAL2: view

Function for HYAL2 Gene

Molecular function for HYAL2 Gene

GENATLAS Biochemistry:
hyaluroglucosaminidase 2,lysosomal,ubiquitously expressed,but not in adult brain,related to testicular SPAM1,involved in glycosaminoglycan catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.
UniProtKB/Swiss-Prot Function:
Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R.

Enzyme Numbers (IUBMB) for HYAL2 Gene

Phenotypes From GWAS Catalog for HYAL2 Gene

Gene Ontology (GO) - Molecular Function for HYAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IEA --
GO:0001618 virus receptor activity IDA 11296287
GO:0003824 catalytic activity IEA --
GO:0004415 hyalurononglucosaminidase activity TAS,IEA --
GO:0005515 protein binding IPI 12676986
genes like me logo Genes that share ontologies with HYAL2: view
genes like me logo Genes that share phenotypes with HYAL2: view

Animal Models for HYAL2 Gene

MGI Knock Outs for HYAL2:

Animal Model Products

  • Taconic Biosciences Mouse Models for HYAL2

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HYAL2 Gene

Localization for HYAL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYAL2 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

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 HYAL2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
golgi apparatus 5
extracellular 3
nucleus 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HYAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS 21740893
GO:0005737 cytoplasm IDA 17170110
GO:0005764 lysosome IDA 9712871
GO:0005783 endoplasmic reticulum NAS 16191204
GO:0005829 cytosol IDA 19366691
genes like me logo Genes that share ontologies with HYAL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HYAL2 Gene

Pathways & Interactions for HYAL2 Gene

genes like me logo Genes that share pathways with HYAL2: view

Gene Ontology (GO) - Biological Process for HYAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IDA 20554532
GO:0001822 kidney development ISS --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006027 glycosaminoglycan catabolic process IDA 9712871
genes like me logo Genes that share ontologies with HYAL2: view

No data available for SIGNOR curated interactions for HYAL2 Gene

Drugs & Compounds for HYAL2 Gene

(3) Drugs for HYAL2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(4) Additional Compounds for HYAL2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-Acetamido-2-deoxy-a-D-allopyranose
  • 2-Acetamido-2-deoxy-a-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-D-allopyranose
  • 2-Acetamido-2-deoxy-alpha-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-delta-allopyranose
N-Acetylgalactosamine 4-sulphate
  • 2-(Acetylamino)-2-deoxy-D-Galactose 4-(hydrogen sulfate)
  • 2-(Acetylamino)-2-deoxy-D-Galactose 4-(hydrogen sulphate)
  • GalNAc4S
  • N-Acetyl-D-galactosamine 4-sulfate
  • N-Acetyl-D-galactosamine 4-sulphate
genes like me logo Genes that share compounds with HYAL2: view

Transcripts for HYAL2 Gene

Unigene Clusters for HYAL2 Gene

Hyaluronoglucosaminidase 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HYAL2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6
SP1: - - - -
SP2: - - - - - -
SP3: - - - - -
SP5: -

Relevant External Links for HYAL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HYAL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HYAL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYAL2 Gene

This gene is overexpressed in Spleen (x7.6).

Protein differential expression in normal tissues from HIPED for HYAL2 Gene

This gene is overexpressed in Heart (46.7), Lung (10.7), and Placenta (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HYAL2 Gene

Protein tissue co-expression partners for HYAL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HYAL2 Gene:


SOURCE GeneReport for Unigene cluster for HYAL2 Gene:


mRNA Expression by UniProt/SwissProt for HYAL2 Gene:

Tissue specificity: Widely expressed. No expression detected in adult brain.

Evidence on tissue expression from TISSUES for HYAL2 Gene

  • Nervous system(4.6)
  • Kidney(4.5)
  • Lung(3.4)
  • Spleen(2.3)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with HYAL2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HYAL2 Gene

Orthologs for HYAL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HYAL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HYAL2 33 34
  • 99.3 (n)
(Canis familiaris)
Mammalia HYAL2 33 34
  • 86.62 (n)
(Bos Taurus)
Mammalia HYAL2 33 34
  • 85.74 (n)
(Mus musculus)
Mammalia Hyal2 33 16 34
  • 83.37 (n)
(Rattus norvegicus)
Mammalia Hyal2 33
  • 82.59 (n)
(Monodelphis domestica)
Mammalia HYAL2 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia HYAL2 34
  • 63 (a)
(Gallus gallus)
Aves HYAL2 33 34
  • 65.37 (n)
(Anolis carolinensis)
Reptilia HYAL2 34
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hyal2 33
  • 63.04 (n)
Str.14988 33
African clawed frog
(Xenopus laevis)
Amphibia hyal2-prov 33
(Danio rerio)
Actinopterygii hyal2 33 34
  • 57.27 (n)
HYAL2 (1 of 3) 34
  • 46 (a)
HYAL2 (3 of 3) 34
  • 46 (a)
(Caenorhabditis elegans)
Secernentea T22C8.2 35
  • 31 (a)
chhy-1 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for HYAL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 HYAL2 Gene

Gene Tree for HYAL2 (if available)
Gene Tree for HYAL2 (if available)

Paralogs for HYAL2 Gene

Paralogs for HYAL2 Gene

(4) SIMAP similar genes for HYAL2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with HYAL2: view

Variants for HYAL2 Gene

Sequence variations from dbSNP and Humsavar for HYAL2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000998020 -- 50,319,478(-) C/T intron_variant
rs1001663232 -- 50,321,787(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1002114469 -- 50,321,104(-) C/T 5_prime_UTR_variant, intron_variant
rs1002675746 -- 50,323,536(-) C/G upstream_transcript_variant
rs1002790690 -- 50,323,750(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HYAL2 Gene

Variant ID Type Subtype PubMed ID
dgv8317n54 CNV loss 21841781
esv2759148 CNV loss 17122850
nsv3813 CNV deletion 18451855
nsv460531 CNV loss 19166990
nsv470561 CNV loss 18288195
nsv523662 CNV loss 19592680
nsv590255 CNV loss 21841781
nsv834692 CNV loss 17160897
nsv834693 CNV loss 17160897
nsv954855 CNV deletion 24416366

Variation tolerance for HYAL2 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.65; 82.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HYAL2 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 HYAL2 Gene

Disorders for HYAL2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HYAL2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cor triatriatum sinister
  • cor triatriatum sinistrum
cor triatriatum
  • triatrial heart
mucopolysaccharidosis, type ix
  • mps9
bronchiolo-alveolar adenocarcinoma
  • bronchioalveolar lung carcinoma
in situ pulmonary adenocarcinoma
  • bronchioalveolar carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search HYAL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HYAL2

genes like me logo Genes that share disorders with HYAL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HYAL2 Gene

Publications for HYAL2 Gene

  1. HYAL2, a human gene expressed in many cells, encodes a lysosomal hyaluronidase with a novel type of specificity. (PMID: 9712871) Lepperdinger G … Kreil G (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Hyaluronidase 2 negatively regulates RON receptor tyrosine kinase and mediates transformation of epithelial cells by jaagsiekte sheep retrovirus. (PMID: 12676986) Danilkovitch-Miagkova A … Lerman MI (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 58
  3. Candidate tumor suppressor HYAL2 is a glycosylphosphatidylinositol (GPI)-anchored cell-surface receptor for jaagsiekte sheep retrovirus, the envelope protein of which mediates oncogenic transformation. (PMID: 11296287) Rai SK … Miller AD (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58
  4. Hyal2--less active, but more versatile? (PMID: 11731268) Lepperdinger G … Kreil G (Matrix biology : journal of the International Society for Matrix Biology 2001) 3 4 22 58
  5. Structural organization and chromosomal localization of Hyal2, a gene encoding a lysosomal hyaluronidase. (PMID: 9790770) Strobl B … Lepperdinger G (Genomics 1998) 2 3 22 58

Products for HYAL2 Gene

Sources for HYAL2 Gene

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