2. Gene
  3. CHPF - chondroitin polymerizing factor Gene

CHPF - chondroitin polymerizing factor Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：软骨素聚合因子

种属: Homo sapiens

同用名: CSS2; CHSY2

基因 ID: 79586 | 基因类型: protein coding

关于 CHPF

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,538,954-219,543,809 (from NCBI)

This gene has 6 transcripts (splice variants), 204 orthologues and 7 paralogues. Broad expression in testis (RPKM 33.7), placenta (RPKM 25.6) and 24 other tissues.

功能概要

启用 N-乙酰半乳糖胺基-蛋白聚糖 3-β-葡糖醛酸转移酶活性和葡糖醛酸-N-乙酰半乳糖胺基-蛋白聚糖 4-β-N-乙酰半乳糖胺基转移酶活性。参与硫酸软骨素的生物合成过程。预测位于高尔基体膜。 [由基因组资源联盟提供，2022 年 4 月]

Enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

CHPF 基因产物(2)

mRNA Protein Name
NM_001195731.2 NP_001182660.2 chondroitin sulfate synthase 2 isoform 2
NM_024536.6 NP_078812.3 chondroitin sulfate synthase 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IDA
IDA: 通过直接分析推断
12761225 GOA
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA
IDA: 通过直接分析推断
12761225 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22082830 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chondroitin sulfate biosynthetic process IDA
IDA: 通过直接分析推断
12761225 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

CHPF 蛋白结构

CHGN

CHGN: Chondroitin N-acetylgalactosaminyltransferase (262 - 762)

  • 0
  • 200
  • 400
  • 600
  • 775 a.a.
蛋白主名 其他名称

chondroitin sulfate synthase 2

N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II

关联疾病

疾病名称 别名
Breast Pericanalicular Fibroadenoma

Pericanalicular Fibroadenoma

Pericanalicular Fibroadenoma Of Breast
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures

SEMDJL1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Semdjl

Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures

Semdjl-Beighton Type

Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type
Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

Semdjl

Spondyloepimetaphyseal Dysplasia Joint Laxity

Semd-Jl

Semdjl1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type
Her2-Receptor Positive Breast Cancer
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02654 CHPF Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21313 Chpf Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27832 Chpf Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CHPF VGNC VGNC:71088
Rattus norvegicus CHPF RGD RGD:1359458
Felis catus CHPF VGNC VGNC:107510
Mus musculus CHPF MGD MGI:106576
Bos taurus CHPF VGNC VGNC:27312
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