1. Gene
  2. HS6ST2 - heparan sulfate 6-O-sulfotransferase 2 Gene

HS6ST2 - heparan sulfate 6-O-sulfotransferase 2 Gene

中文名称:硫酸乙酰肝素 6-O-磺基转移酶 2

种属: Homo sapiens

同用名: MRXSPM

基因 ID: 90161 | 基因类型: protein coding

关于 HS6ST2

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:132,626,015-132,961,370 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 4.4), ovary (RPKM 4.1) and 11 other tissues.

功能概要

硫酸乙酰肝素蛋白聚糖是细胞表面、细胞外基质和基底膜中普遍存在的成分,并与各种配体相互作用以影响细胞生长、分化、粘附和迁移。该基因编码硫酸乙酰肝素 (HS) 磺基转移酶基因家族的一员,该家族催化硫酸盐向 HS 的转移。不同的家族成员和亚型被认为可以合成具有组织特异性结构和功能的硫酸乙酰肝素。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HS6ST2 基因产物(4)

mRNA Protein Name
NM_001077188.2 NP_001070656.1 heparan-sulfate 6-O-sulfotransferase 2 isoform L
NM_001394073.1 NP_001381002.1 heparan-sulfate 6-O-sulfotransferase 2 isoform L
NM_001394074.1 NP_001381003.1 heparan-sulfate 6-O-sulfotransferase 2 isoform S
NM_147175.4 NP_671704.3 heparan-sulfate 6-O-sulfotransferase 2 isoform S

HS6ST2 蛋白结构

Sulfotransfer_2

Sulfotransfer_2: Sulfotransferase family (220 - 491)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 605 a.a.
蛋白主名 其他名称

heparan-sulfate 6-O-sulfotransferase 2

HS6ST-2

关联疾病

疾病名称 别名
Paganini-Miozzo Syndrome

MRXSPM

Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type

Cartilage Cancer

Chondrogenic Neoplasm

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome

VSVS

Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures

Iddisbas

Mrd24

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24

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
Canis familiaris HS6ST2 VGNC VGNC:41794
Rattus norvegicus HS6ST2 RGD RGD:1564397
Mus musculus HS6ST2 MGD MGI:1354959
Macaca mulatta HS6ST2 VGNC VGNC:73422
Bos taurus HS6ST2 VGNC VGNC:106774