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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 (Glypican 6) is a Protein Coding gene. Diseases associated with GPC6 include Omodysplasia 1 and Omodysplasia. Among its related pathways are Signaling by GPCR and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include heparan sulfate proteoglycan binding. An important paralog of this gene is GPC4.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH13J093224 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +1.6 | 1639 | 8.5 | HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 REST ZNF629 TFE3 | ENSG00000278177 GPC6 HSALNG0098638 | |
GH13J093248 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 11.8 | +22.6 | 22605 | 2.4 | GATAD2A CTCF TFE3 NFKBIZ JUND FOXA1 PRDM1 ZIC2 POLR2A RXRB | GPC6 HSALNG0098638 ENSG00000278177 | |
GH13J093861 | Enhancer | 0.7 | Ensembl ENCODE | 21.3 | +635.3 | 635294 | 1.4 | JUND CEBPB FOS NR2F2 FOSL2 BHLHE40 NFE2L2 CHD1 | GPC6 GPC6-AS2 piR-51137-036 DCT | |
GH13J093881 | Enhancer | 0.6 | Ensembl ENCODE | 21 | +655.3 | 655322 | 0.8 | PRDM1 ZBTB48 BHLHE40 ZNF366 ZNF660 MZF1 | GPC6 piR-51137-036 RF00017-1467 DCT | |
GH13J093325 | Enhancer | 0.7 | Ensembl ENCODE | 18.2 | +100.2 | 100152 | 2.5 | CUX1 ESR1 GATA3 JUND RCOR1 FOXA1 CHD2 NANOG GATA2 | GPC6 ENSG00000286843 HNRNPA1P29 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 29162697 |
GO:1904929 | coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway | NAS | 24431302 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IBA | 21873635 |
GO:0005615 | extracellular space | IEA | -- |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0005886 | plasma membrane | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | Chondroitin sulfate/dermatan sulfate metabolism | ||
3 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
4 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
5 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
GO:0006027 | glycosaminoglycan catabolic process | TAS | -- |
GO:0009966 | regulation of signal transduction | IEA | -- |
GO:0016477 | cell migration | IDA | 21871017 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPC6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
GPC6 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | GPC6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPC6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gpc6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC691984 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GPC6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GPC6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpc6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | GPC6 (2 of 3) 31 |
|
OneToMany | |
zgc:171629 30 |
|
||||
GPC6 (1 of 3) 31 |
|
OneToMany | |||
GPC6 (3 of 3) 31 |
|
OneToMany | |||
kny 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | dlp 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | gpn-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716177 | Benign: Autosomal recessive omodysplasia; not provided | 93,227,520(+) | G/A | MISSENSE_VARIANT | |
721940 | Benign: not provided | 93,545,291(+) | A/G | SYNONYMOUS_VARIANT | |
730194 | Likely Benign: not provided | 93,830,410(+) | A/G | SYNONYMOUS_VARIANT | |
734629 | Likely Benign: not provided | 94,398,514(+) | T/C | SYNONYMOUS_VARIANT | |
739728 | Likely Benign: not provided | 93,830,344(+) | A/G | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
omodysplasia 1 |
|
|
omodysplasia |
|
|
body dysmorphic disorder |
|
|
tumoral calcinosis, hyperphosphatemic, familial, 1 |
|
|
breast cancer |
|
|