HAS2 hyaluronan synthase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAS2provided by HGNC
Official Full Name: hyaluronan synthase 2provided by HGNC
Primary source: HGNC:HGNC:4819
See related: Ensembl:ENSG00000170961 MIM:601636; AllianceGenome:HGNC:4819
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Broad expression in appendix (RPKM 7.0), gall bladder (RPKM 6.4) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (121612116..121641440, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (122742348..122771670, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (122624356..122653680, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unravelling the role of HAS2, GREM1, and PTGS2 gene expression in cumulus cells: implications for human oocyte development competency - a systematic review and integrated bioinformatic analysis.
Title: Unravelling the role of HAS2, GREM1, and PTGS2 gene expression in cumulus cells: implications for human oocyte development competency - a systematic review and integrated bioinformatic analysis.
MicroRNA-376b is involved in the pathogenesis of thyroid-associated ophthalmopathy by regulating HAS2.
Title: MicroRNA-376b is involved in the pathogenesis of thyroid-associated ophthalmopathy by regulating HAS2.
Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression.
Title: Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression.
Downregulation of HAS-2 regulates the chondrocyte cytoskeleton and induces cartilage degeneration by activating the RhoA/ROCK signaling pathway.
Title: Downregulation of HAS‑2 regulates the chondrocyte cytoskeleton and induces cartilage degeneration by activating the RhoA/ROCK signaling pathway.
The Upregulation of HAS2-AS1 Relates to the Granulosa Cell Dysfunction by Repressing TGF-beta Signaling and Upregulating HAS2.
Title: The Upregulation of HAS2-AS1 Relates to the Granulosa Cell Dysfunction by Repressing TGF-β Signaling and Upregulating HAS2.
3'UTR shortening of HAS2 promotes hyaluronan hyper-synthesis and bioenergetic dysfunction in pulmonary hypertension.
Title: 3'UTR shortening of HAS2 promotes hyaluronan hyper-synthesis and bioenergetic dysfunction in pulmonary hypertension.
Placental and endothelial biomarkers for the prediction of superimposed pre-eclampsia in chronic kidney disease.
Title: Placental and endothelial biomarkers for the prediction of superimposed pre-eclampsia in chronic kidney disease.
Hyaluronan synthase 2 (HAS2) regulates cell phenotype and invadopodia formation in luminal-like breast cancer cells.
Title: Hyaluronan synthase 2 (HAS2) regulates cell phenotype and invadopodia formation in luminal-like breast cancer cells.
GNA14 stimulation of KLF7 promotes malignant growth of endometrial cancer through upregulation of HAS2.
Title: GNA14 stimulation of KLF7 promotes malignant growth of endometrial cancer through upregulation of HAS2.
Increased SPHK1 and HAS2 Expressions Correlate to Poor Prognosis in Pancreatic Cancer.
Title: Increased SPHK1 and HAS2 Expressions Correlate to Poor Prognosis in Pancreatic Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (99)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of hyaluronan synthase 2 (HAS2) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47010 (e-PCR)
- UniSTS:31056

D8S1101 (e-PCR)
- UniSTS:72554

NoName (e-PCR)
- UniSTS:482418

NoName (e-PCR)
- UniSTS:480905

HAS2 (e-PCR)
- UniSTS:278516

HAS2__6698 (e-PCR)
- UniSTS:463605

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hyaluronan synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables hyaluronan synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables hyaluronan synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hyaluronan synthase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in atrioventricular canal development	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fluid shear stress	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to platelet-derived growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in endocardial cushion to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in estrous cycle	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular polysaccharide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular polysaccharide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in hyaluronan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hyaluronan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hyaluronan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hyaluronan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hyaluronan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of keratinocyte migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of keratinocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of monocyte aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of urine volume	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of extracellular matrix assembly	IEA Inferred from Electronic Annotation more info
involved_in renal water absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane raft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: hyaluronan synthase 2

Names: HA synthase 2; hyaluronate synthase 2; hyaluronic acid synthase 2

NP_005319.1

EC 2.4.1.212

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.