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  2. HAS2 - hyaluronan synthase 2 Gene

HAS2 - hyaluronan synthase 2 Gene

中文名称:透明质酸合酶 2

种属: Homo sapiens

基因 ID: 3037 | 基因类型: protein coding

关于 HAS2

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:121,612,116-121,641,440 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues and 2 paralogues. Broad expression in appendix (RPKM 7.0), gall bladder (RPKM 6.4) and 18 other tissues.

功能概要

透明质酸或透明质酸 (HA) 是由从细菌到哺乳动物的多种生物体合成的高分子量无支链多糖,并且是细胞外基质的组成部分。它由交替的葡萄糖醛酸和 N-乙酰葡糖胺残基组成,它们通过 β-1-3 和 β-1-4 糖苷键连接。 HA 由质膜内表面的膜结合合酶合成,链通过孔状结构挤出到细胞外空间。它具有多种功能,包括空间填充、关节润滑和提供细胞可以迁移的基质。 HA 在伤口愈合和组织修复过程中积极产生,为血管和成纤维细胞向内生长提供框架。 HA 血清浓度的变化与炎症和退行性关节病如类风湿性关节炎有关。此外,HA 与白细胞受体 CD44 的相互作用在白细胞的组织特异性归巢中很重要,并且 HA 受体的过度表达与肿瘤转移相关。 HAS2 是新发现的编码假定乙酰透明质酸合酶的脊椎动物基因家族的成员,其氨基酸序列与非洲爪蟾的糖胺聚糖合成酶 (DG42) 以及人和鼠透明质酸合酶 1 具有显着同源性。[RefSeq 提供,2008 年 7 月]

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]

HAS2 基因产物(1)

mRNA Protein Name
NM_005328.3 NP_005319.1 hyaluronan synthase 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables hyaluronan synthase activity IDA
IDA: 通过直接分析推断
30394292 GOA
enables hyaluronan synthase activity IMP
IMP: 通过突变表型推断
22016393 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
20507985 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20507985 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to fluid shear stress IEP
IEP: 通过表达模式推断
21551265 GOA
involved in cellular response to interleukin-1 IEP
IEP: 通过表达模式推断
20522558 GOA
involved in cellular response to platelet-derived growth factor stimulus IDA
IDA: 通过直接分析推断
17324121 GOA
involved in cellular response to tumor necrosis factor IEP
IEP: 通过表达模式推断
20522558 GOA
involved in hyaluronan biosynthetic process IDA
IDA: 通过直接分析推断
17324121 GOA
involved in hyaluronan biosynthetic process IMP
IMP: 通过突变表型推断
20507985 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
22016393 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
22016393 GOA
involved in positive regulation of monocyte aggregation IMP
IMP: 通过突变表型推断
20522558 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
25795779 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
30394292 GOA
located in extracellular vesicle IDA
IDA: 通过直接分析推断
30394292 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20522558 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HAS2 蛋白结构

Chitin_synth_2

Chitin_synth_2: Chitin synthase (206 - 358)

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  • 552 a.a.
蛋白主名 其他名称

hyaluronan synthase 2

HA synthase 2

HAS2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HAS2 Q92819 HAS1 Homo sapiens Q92839
PLA
25795779
种属内
HAS2 Q92819 HAS1 Homo sapiens Q92839 25795779
种属内
HAS2 Q92819 HAS1 Homo sapiens Q92839 25795779
种属内
HAS2 Q92819 HAS3 Homo sapiens O00219
PLA
25795779
种属内
HAS2 Q92819 HAS3 Homo sapiens O00219 25795779
种属内
HAS2 Q92819 HAS3 Homo sapiens O00219 25795779
种属内
HAS2 Q92819 HAS3 Homo sapiens O00219 25795779
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Mucopolysaccharidosis, Type Ix

Mucopolysaccharidosis Type Ix

Hyaluronidase Deficiency

MPS9

Mps Ix

Mucopolysaccharidosis Ix

Mpsix

Mucopolysaccharidosis Type 9

Mucopolysaccharidosis 9

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus HAS2 VGNC VGNC:29755
Felis catus HAS2 VGNC VGNC:81661
Macaca mulatta HAS2 VGNC VGNC:84004
Rattus norvegicus HAS2 RGD RGD:2781
Mus musculus HAS2 MGD MGI:107821
Canis familiaris HAS2 VGNC VGNC:41600
Others HAS2 NCBI