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... See more...

Aliases for HAS2 Gene

Aliases for HAS2 Gene

  • Hyaluronan Synthase 2 2 3 4 5
  • Hyaluronic Acid Synthase 2 3 4
  • Hyaluronate Synthase 2 3 4
  • HA Synthase 2 3 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 Metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hyaluronan synthase activity. An important paralog of this gene is HAS3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH08J121637 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.3 1288 7.5 CTCF TCF12 MYC USF1 ZBTB10 ZBTB26 SAP30 CHD1 RAD21 EP300 AY941178 HAS2 HAS2-AS1 LINC02855 lnc-HAS2-1 piR-43106-200 RF00017-7290
GH08J121818 Enhancer 0.8 Ensembl ENCODE 11.5 -179.3 -179286 6.2 RELA CREB1 NR2F2 BATF PKNOX1 GATA2 JUNB ATF2 JUND SRF HAS2 HAS2-AS1 piR-48348-086 piR-51819-023 lnc-ZHX2-3
GH08J121619 Enhancer 0.7 Ensembl ENCODE dbSUPER 11.7 +21.3 21288 1.5 FOXA1 CEBPB HAS2 KR153203-011 piR-43106-200 RF00017-7290
GH08J121784 Enhancer 0.6 Ensembl ENCODE 11 -143.3 -143260 0.6 NR2F2 FOXP2 BHLHE40 HAS2-AS1 HAS2 piR-30188-172 lnc-ZHX2-3 piR-36082
GH08J120702 Enhancer 0.7 ENCODE dbSUPER 4.6 +939.1 939108 1.6 RAD21 SMC3 RBM22 CTCF SSRP1 MNT BHLHE40 SNTB1 HAS2 piR-31292-205 RF00994-1089
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAS2

Top Transcription factor binding sites by QIAGEN in the HAS2 gene promoter:
  • AP-4
  • ATF6
  • Cart-1
  • Cdc5
  • E2F-1
  • Egr-3
  • HEN1
  • Ik-2
  • RFX1
  • XBP-1

Genomic Locations for HAS2 Gene

Genomic Locations for HAS2 Gene
chr8:121,612,116-121,641,440
(GRCh38/hg38)
Size:
29,325 bases
Orientation:
Minus strand
chr8:122,624,356-122,653,630
(GRCh37/hg19)
Size:
29,275 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Blocks:
  • Glycosyl transferase, family 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAS2 Gene

GenScript: Design optimal peptide antigens:
  • Hyaluronic acid synthase 2 (HAS2_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP; Xref=Rhea:RHEA:20465, Rhea:RHEA-COMP:12583, Rhea:RHEA-COMP:12585, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.212;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP-alpha-D-glucuronate = [hyaluronan](n+1) + H(+) + UDP; Xref=Rhea:RHEA:12528, Rhea:RHEA-COMP:12585, Rhea:RHEA-COMP:12587, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.212;.
GENATLAS Biochemistry:
hyaluronan synthase gene 2

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:0005515 protein binding IPI 25795779
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0042802 identical protein binding IPI 25795779
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:
  • Has2 Has2<tm1Jam>
  • Has2 Has2<tm1.2Chg>
  • Has2 Has2<tm1.2Nita>

Animal Model Products

CRISPR Products

miRNA for HAS2 Gene

miRTarBase miRNAs that target HAS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAS2

Clone Products

  • Addgene plasmids for HAS2

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
golgi apparatus 3
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 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 --
GO:0044853 plasma membrane raft 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

(9) 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 730
Magnesium Approved, Experimental, Investigational Pharma 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-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 :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAS2

Clone Products

  • Addgene plasmids for HAS2

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

No ASD Table

Relevant External Links for HAS2 Gene

GeneLoc Exon Structure for
HAS2

Expression for HAS2 Gene

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



Protein tissue co-expression partners for HAS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.88 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAS2 31
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAS2 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAS2 31 30
  • 93.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HAS2 31 30
  • 93.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Has2 30
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Has2 17 31 30
  • 90.94 (n)
chicken
(Gallus gallus)
Aves HAS2 31 30
  • 84.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 95 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia has2 30
  • 79.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.608 30
zebrafish
(Danio rerio)
Actinopterygii has2 31 30 30
  • 73.67 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for HAS2: view image

Paralogs for HAS2 Gene

Paralogs for HAS2 Gene

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

  • HYAS2_HUMAN
genes like me logo Genes that share paralogs with HAS2: view

Variants for HAS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAS2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
773404 Benign: not provided 121,614,529(-) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HAS2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HAS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HAS2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lipoblastoma
mucopolysaccharidosis, type ix
  • mps9
ventricular septal defect
  • interventricular septal defect
glycogen storage disease iii
  • gsd3
eye disease
  • abnormality of the eye
- 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 23 54
  2. Molecular identification of a putative human hyaluronan synthase. (PMID: 8798477) Watanabe K … Yamaguchi Y (The Journal of biological chemistry 1996) 3 4 23 54
  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 41 54
  4. 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 23 54
  5. Expression of hyaluronan synthases (HAS1-3) and hyaluronidases (HYAL1-2) in serous ovarian carcinomas: inverse correlation between HYAL1 and hyaluronan content. (PMID: 19435493) Nykopp TK … Anttila M (BMC cancer 2009) 3 23 54

Products for HAS2 Gene

  • Signalway ELISA kits for HAS2
  • Signalway Proteins for HAS2

Sources for HAS2 Gene