1. Gene
  2. GPC4 - glypican 4 Gene

GPC4 - glypican 4 Gene

中文名称:磷脂酰肌醇 4

种属: Homo sapiens

同用名: KPTS; K-glypican

基因 ID: 2239 | 基因类型: protein coding

关于 GPC4

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:133,300,103-133,415,489 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues, 5 paralogues and is associated with 6 phenotypes. Broad expression in placenta (RPKM 22.5), kidney (RPKM 16.2) and 22 other tissues.

功能概要

细胞表面硫酸乙酰肝素蛋白聚糖由膜相关蛋白核心组成,该核心被可变数量的硫酸乙酰肝素链取代。磷脂酰肌醇蛋白聚糖相关的完整膜蛋白多糖家族 (GRIPS) 的成员包含一个通过糖基磷脂酰肌醇键固定在细胞质膜上的核心蛋白。这些蛋白质可能在控制细胞分裂和生长调节中发挥作用。 GPC4 基因与 GPC3 的 3' 端相邻,也可能在 Simpson-Golabi-Behmel 综合征中发挥作用。[RefSeq 提供,2008 年 7 月]

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]

GPC4 基因产物(1)

mRNA Protein Name
NM_001448.3 NP_001439.2 glypican-4 precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Wnt signaling pathway IMP
IMP: 通过突变表型推断
29276006 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
10585884 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

GPC4 蛋白结构

Glypican

Glypican: Glypican (10 - 555)

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

glypican-4

dJ900E8.1 (glypican 4)

关联疾病

疾病名称 别名
Keipert Syndrome

Nasodigitoacoustic Syndrome

KPTS

Nasodigitoacoustic Syndrome, Formerly

Simpson-Golabi-Behmel Syndrome, Type 1

Simpson-Golabi-Behmel Syndrome Type 1

Simpson-Golabi-Behmel Syndrome

SGBS1

Golabi-Rosen Syndrome

Simpson Dysmorphia Syndrome

Sgbs

Bulldog Syndrome

Dgsx

Sdys

Dysplasia Gigantism Syndrome, X-Linked

X-Linked Dysplasia Gigantism Syndrome

Dgsx Golabi-Rosen Syndrome

Sara Angers Syndrome

Sgb Syndrome

Mental Retardation-Overgrowth Syndrome

Simpson Dysplasia Syndrome

Simpson Syndrome

Simpson-Golabi-Behmel Syndrome 1

Dysplasia Gigantism Syndrome X-Linked

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Omodysplasia

Omodysplasia Type 1

Omodysplasia 2

Hereditary Multiple Exostoses

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Multiple Exostosis Syndromes

Multiple Ostechondromas

Osteochondromatosis Syndrome

Exostoses Multiple Hereditary

Exostoses, Multiple Hereditary

Exostosis

Osteophyte

Exostoses

Orbital Exostosis

Exostosis Of Orbit

Bone Spur

Bony Outgrowth

Swimmer'S Exostosis

Osteophytes

External Exotoses

Cartilaginous Exostosis

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

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
Rattus norvegicus GPC4 RGD RGD:1359399
Bos taurus GPC4 VGNC VGNC:29526
Canis familiaris GPC4 VGNC VGNC:41374
Felis catus GPC4 VGNC VGNC:67406
Mus musculus GPC4 MGD MGI:104902
Macaca mulatta GPC4 VGNC VGNC:73118