1. Gene
  2. GPC6 - glypican 6 Gene

GPC6 - glypican 6 Gene

中文名称:磷脂糖 6

种属: Homo sapiens

同用名: OMIMD1

基因 ID: 10082 | 基因类型: protein coding

关于 GPC6

Cytogenetic location: 13q31.3-q32.1 Genomic coordinates (GRCh38): 13:93,216,529-94,408,020 (from NCBI)

This gene has 2 transcripts (splice variants), 282 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 6.5), urinary bladder (RPKM 3.9) and 21 other tissues.

功能概要

glypicans 包含一个糖基磷脂酰肌醇锚定的硫酸乙酰肝素蛋白聚糖家族,它们与细胞生长和细胞分裂的控制有关。由该基因编码的磷脂酰肌醇蛋白聚糖是生长因子、细胞外基质蛋白、蛋白酶和抗蛋白酶的假定细胞表面辅助受体。该基因的突变与 omodysplasia 1 有关。[RefSeq 提供,2016 年 11 月]

The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]

GPC6 基因产物(1)

mRNA Protein Name
NM_005708.5 NP_005699.1 glypican-6 precursor
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 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 cell migration IDA
IDA: 通过直接分析推断
21871017 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

GPC6 蛋白结构

Glypican

Glypican: Glypican (15 - 553)

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

glypican-6

glypican proteoglycan 6

关联疾病

疾病名称 别名
Omodysplasia 1

OMOD1

Autosomal Recessive Omodysplasia

Omodysplasia Autosomal Recessive

Omodysplasia Generalized Form

Omodysplasia Type 1

Omodysplasia, Generalized Form

Omodysplasia, Autosomal Recessive

Micromelic Dysplasia, Congenital, With Dislocation Of Radius

Micromelic Dysplasia Congenita With Dislocation Of Radius

Micromelic Dysplasia-Dislocation Of Radius Syndrome

Micromelic Dysplasia Congenital With Dislocation Of Radius

Omodysplasia, Type 1

Omodysplasia

Omodysplasia Type 1

Omodysplasia 2

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

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

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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
Macaca mulatta GPC6 VGNC VGNC:106263
Rattus norvegicus GPC6 RGD RGD:1593308
Mus musculus GPC6 MGD MGI:1346322
Felis catus GPC6 VGNC VGNC:102215