GPC6 glypican 6 [Homo sapiens] - Gene

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Summary

Official Symbol: GPC6provided by HGNC
Official Full Name: glypican 6provided by HGNC
Primary source: HGNC:4454
Locus tag: UNQ369/PRO705
See related: Ensembl:ENSG00000183098; HPRD:05099; MIM:604404; Vega:OTTHUMG00000017205
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OMIMD1; MGC126288
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. [provided by RefSeq, Jan 2009]

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Genomic context

Location :: 13q32

Sequence :: Chromosome: 13; NC_000013.10 (93879078..95060274)

See GPC6 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

GPC6 promotes invasive migration by inhibition of canonical beta-catenin and Wnt signalling, and up-regulation of non-canonical Wnt5A signalling leading to the activation of JNK and p38 MAPK.
Title: NFAT promotes carcinoma invasive migration through glypican-6.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study of neuroticism in a population-based sample.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
a reduction in GPC6 mRNA in retinoblastoma is associated with the non-random allelic loss at 13q31 that could contribute to RB development.
Title: Allelic imbalance at 13q31 is associated with reduced GPC6 in Chinese with sporadic retinoblastoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association to the Glypican-5 gene in multiple sclerosis.
Mutations in the heparan-sulfate proteoglycan glypican 6 impair endochondral ossification and cause recessive omodysplasia
Title: Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study of neuroticism in a population-based sample.

Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.

Function	Evidence Code	Pubs
heparan sulfate proteoglycan binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
anchored to membrane	IEA Inferred from Electronic Annotation more info
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: glypican-6

Names: glypican-6; glypican proteoglycan 6

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011880.1 RefSeqGene

Range

5001..1186197

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005708.3 → NP_005699.1 glypican-6 precursor

Status: REVIEWED

Source sequence(s)

AF111178, AK290144, AL137144, AY358462, BQ009005, BQ182216, BX640888

Consensus CDS

CCDS9469.1

UniProtKB/Swiss-Prot

Q9Y625

Related

ENSP00000366246, OTTHUMP00000018552, ENST00000377047, OTTHUMT00000045460

Conserved Domains (1) summary

pfam01153
Location:24 – 554
Blast Score: 2179

Glypican; Glypican

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

93879078..95060274

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

74476112..75657237

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL137144.14	CAH71332.1
genomic	AL138700.18 (100..20171)	None
genomic	AL139798.13	CAC39445.2
genomic	AL160036.12	CAI15668.1
genomic	AL160159.12 (100..129574)	None
genomic	AL161426.7	CAH71606.1
genomic	AL162455.14	CAC40695.2
genomic	AL354762.7 (100..104998)	None
genomic	AL354811.13	CAC21820.2
genomic	AL356598.24 (100..71114)	None
genomic	AL357275.14 (100..68208)	None
genomic	AL450425.13 (100..141979)	None
genomic	AL606810.7 (2000..19224)	None
genomic	CH471085.1	EAX08931.1
		EAX08932.1
		EAX08933.1
		EAX08934.1
mRNA	AF105267.1	AAD55749.1
mRNA	AF111178.1	AAD31392.1
mRNA	AK074741.1	None
mRNA	AK130013.1	None
mRNA	AK290144.1	BAF82833.1
mRNA	AK304338.1	BAG65183.1
mRNA	AY358462.1	AAQ88827.1
mRNA	BC106947.2	AAI06948.1
mRNA	BQ009005.1	None
mRNA	BQ182216.1	None
mRNA	BX640888.1	None