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Aliases for HAS2 Gene

Aliases for HAS2 Gene

  • Hyaluronan Synthase 2 2 3 5
  • Hyaluronic Acid Synthase 2 4
  • Hyaluronate Synthase 2 4
  • HA Synthase 2 4
  • EC 2.4.1.212 4

External Ids for HAS2 Gene

Previous GeneCards Identifiers for HAS2 Gene

  • GC08M122683
  • GC08M122294
  • GC08M122582
  • GC08M122694
  • GC08M117950
  • GC08M122624

Summaries for HAS2 Gene

Entrez Gene Summary for HAS2 Gene

  • Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for HAS2 Gene

HAS2 (Hyaluronan Synthase 2) is a Protein Coding gene. Diseases associated with HAS2 include Lipoblastoma and Mucopolysaccharidosis, Type Ix. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hyaluronan synthase activity. An important paralog of this gene is HAS3.

UniProtKB/Swiss-Prot for HAS2 Gene

  • Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. May also play a role in vasculogenesis. High molecular mass hyaluronan also play a role in early contact inhibition a process which stops cell growth when cells come into contact with each other or the extracellular matrix (By similarity).

Gene Wiki entry for HAS2 Gene

Additional gene information for HAS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAS2 Gene

Genomics for HAS2 Gene

GeneHancer (GH) Regulatory Elements for HAS2 Gene

Promoters and enhancers for HAS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I121637 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 601 6.2 ATF1 SIN3A GLIS2 ZNF213 ZNF143 MAFF GLIS1 HNF4A PRDM4 SP7 HAS2 HAS2-AS1 LOC105375732 GC08M121582
GH08I121821 Enhancer 0.5 ENCODE 11.5 -181.5 -181489 1.9 PKNOX1 JUNB BATF NR2F2 RELA HAS2-AS1 HAS2 PIR59127 GC08P121847
GH08I121619 Enhancer 0.4 ENCODE dbSUPER 11.7 +21.1 21138 1.3 HAS2 HAS2-AS1 GC08P121551 GC08M121582
GH08I121610 Enhancer 0.4 dbSUPER 11.4 +30.6 30555 1.4 ZFHX2 EGR2 HAS2-AS1 HAS2 GC08P121551 GC08M121582
GH08I120702 Enhancer 0.8 Ensembl ENCODE dbSUPER 4.6 +939.1 939058 1.6 SSRP1 MNT RAD21 SNTB1 HAS2 LOC101927543 NCAPGP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAS2 gene promoter:

Genomic Locations for HAS2 Gene

Genomic Locations for HAS2 Gene
chr8:121,612,116-121,641,390
(GRCh38/hg38)
Size:
29,275 bases
Orientation:
Minus strand
chr8:122,624,356-122,653,630
(GRCh37/hg19)

Genomic View for HAS2 Gene

Genes around HAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAS2 Gene

Proteins for HAS2 Gene

  • Protein details for HAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92819-HYAS2_HUMAN
    Recommended name:
    Hyaluronan synthase 2
    Protein Accession:
    Q92819
    Secondary Accessions:
    • Q32MM3

    Protein attributes for HAS2 Gene

    Size:
    552 amino acids
    Molecular mass:
    63566 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for HAS2 Gene

Post-translational modifications for HAS2 Gene

No Post-translational modifications

Other Protein References for HAS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAS2 Gene

Domains & Families for HAS2 Gene

Gene Families for HAS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for HAS2 Gene

Suggested Antigen Peptide Sequences for HAS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92819

UniProtKB/Swiss-Prot:

HYAS2_HUMAN :
  • Belongs to the NodC/HAS family.
Family:
  • Belongs to the NodC/HAS family.
genes like me logo Genes that share domains with HAS2: view

Function for HAS2 Gene

Molecular function for HAS2 Gene

GENATLAS Biochemistry:
hyaluronan synthase gene 2
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan) = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan).
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan) = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan).
UniProtKB/Swiss-Prot Function:
Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. May also play a role in vasculogenesis. High molecular mass hyaluronan also play a role in early contact inhibition a process which stops cell growth when cells come into contact with each other or the extracellular matrix (By similarity).

Enzyme Numbers (IUBMB) for HAS2 Gene

Phenotypes From GWAS Catalog for HAS2 Gene

Gene Ontology (GO) - Molecular Function for HAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0050501 hyaluronan synthase activity ISS,IMP --
genes like me logo Genes that share ontologies with HAS2: view
genes like me logo Genes that share phenotypes with HAS2: view

Animal Models for HAS2 Gene

MGI Knock Outs for HAS2:

Animal Model Products

CRISPR Products

miRNA for HAS2 Gene

miRTarBase miRNAs that target HAS2

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HAS2 Gene

Localization for HAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAS2 Gene

Membrane; Multi-pass membrane protein.

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 HAS2 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005887 integral component of plasma membrane IDA 20522558
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HAS2: view

Pathways & Interactions for HAS2 Gene

genes like me logo Genes that share pathways with HAS2: view

UniProtKB/Swiss-Prot Q92819-HYAS2_HUMAN

  • Pathway: Glycan biosynthesis; hyaluronan biosynthesis.

Gene Ontology (GO) - Biological Process for HAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis ISS --
GO:0001822 kidney development IEA,ISS --
GO:0008284 positive regulation of cell proliferation IMP 22016393
GO:0010838 positive regulation of keratinocyte proliferation IEA --
GO:0014911 positive regulation of smooth muscle cell migration IEA --
genes like me logo Genes that share ontologies with HAS2: view

No data available for SIGNOR curated interactions for HAS2 Gene

Drugs & Compounds for HAS2 Gene

(10) Drugs for HAS2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma 535
Magnesium Approved Nutra 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(13) Additional Compounds for HAS2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with HAS2: view

Transcripts for HAS2 Gene

mRNA/cDNA for HAS2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HAS2 Gene

Hyaluronan synthase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAS2 Gene

No ASD Table

Relevant External Links for HAS2 Gene

GeneLoc Exon Structure for
HAS2
ECgene alternative splicing isoforms for
HAS2

Expression for HAS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAS2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x5.2).

Protein differential expression in normal tissues from HIPED for HAS2 Gene

This gene is overexpressed in Plasma (65.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HAS2 Gene



Protein tissue co-expression partners for HAS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HAS2 Gene:

HAS2

SOURCE GeneReport for Unigene cluster for HAS2 Gene:

Hs.159226

mRNA Expression by UniProt/SwissProt for HAS2 Gene:

Q92819-HYAS2_HUMAN
Tissue specificity: Expressed in fibroblasts.

Evidence on tissue expression from TISSUES for HAS2 Gene

  • Nervous system(4.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with HAS2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HAS2 Gene

Orthologs for HAS2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAS2 33 34
  • 99.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HAS2 34
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAS2 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAS2 33 34
  • 93.9 (n)
cow
(Bos Taurus)
Mammalia HAS2 33 34
  • 93.66 (n)
rat
(Rattus norvegicus)
Mammalia Has2 33
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Has2 33 16 34
  • 90.94 (n)
chicken
(Gallus gallus)
Aves HAS2 33 34
  • 84.78 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 95 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia has2 33
  • 79.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.608 33
zebrafish
(Danio rerio)
Actinopterygii has2 33 34
  • 73.67 (n)
Species where no ortholog for HAS2 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 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)
  • worm (Caenorhabditis elegans)

Evolution for HAS2 Gene

ENSEMBL:
Gene Tree for HAS2 (if available)
TreeFam:
Gene Tree for HAS2 (if available)

Paralogs for HAS2 Gene

Paralogs for HAS2 Gene

(2) SIMAP similar genes for HAS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HAS2: view

Variants for HAS2 Gene

Sequence variations from dbSNP and Humsavar for HAS2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000063050 -- 121,618,776(-) C/T intron_variant
rs1000163480 -- 121,619,570(-) C/T intron_variant
rs1000196189 -- 121,626,739(-) T/C intron_variant
rs1000378275 -- 121,616,524(-) C/T intron_variant
rs1000407939 -- 121,616,227(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HAS2 Gene

Variant ID Type Subtype PubMed ID
nsv1077067 CNV deletion 25765185
nsv831446 CNV loss 17160897

Variation tolerance for HAS2 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAS2 Gene

Human Gene Mutation Database (HGMD)
HAS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAS2 Gene

Disorders for HAS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAS2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lipoblastoma
mucopolysaccharidosis, type ix
  • mps9
- elite association - COSMIC cancer census association via MalaCards
Search HAS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HYAS2_HUMAN
  • Note=A chromosomal aberration involving HAS2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. 8q12.1 to 8q24.1 intrachromosomal rearrangement with PLAG1. {ECO:0000269 PubMed:15642402}.

Additional Disease Information for HAS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HAS2: view

No data available for Genatlas for HAS2 Gene

Publications for HAS2 Gene

  1. Chromosomal localization of the human and mouse hyaluronan synthase genes. (PMID: 9169154) Spicer AP … McDonald JA (Genomics 1997) 2 3 22 58
  2. Molecular identification of a putative human hyaluronan synthase. (PMID: 8798477) Watanabe K … Yamaguchi Y (The Journal of biological chemistry 1996) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Inhibition of hyaluronan synthases decreases matrix metalloproteinase-7 (MMP-7) expression and activity. (PMID: 19231585) Dunn KM … McCarthy JB (Surgery 2009) 3 22 58
  5. Regulation of the hyaluronan synthase 2 gene by convergence in cyclic AMP response element-binding protein and retinoid acid receptor signaling. (PMID: 19416972) Makkonen KM … Carlberg C (The Journal of biological chemistry 2009) 3 22 58

Products for HAS2 Gene

Sources for HAS2 Gene

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