GPC6 - glypican 6 Gene

Also Known as OMIMD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10082

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_005708.5 NP_005699.1 glypican-6 precursor
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in cell migration IDA
IDA: Inferred from direct assay
21871017 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPC6 Protein Structure

Glypican

Glypican: Glypican (15 - 553)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 555 a.a.
Protein Preferred Names Protein Names

glypican-6

  • glypican proteoglycan 6

GPC6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
GPC6 Q9Y625 GPC4 Homo sapiens O75487 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others GPC6 NCBI