Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2239 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Glypican 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
GPC4 |
SynonymsGene synonyms aliases
|
K-glypican, KPTS |
ChromosomeChromosome number
|
X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xq26.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1556022641 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1556022644 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1556022962 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1556025980 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1556028269 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1569339879 |
->GCAC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1569341521 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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Protein
|
UniProt ID |
O75487 |
Protein name |
Glypican-4 (K-glypican) [Cleaved into: Secreted glypican-4] |
Protein function |
Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity). |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01153 |
Glypican |
9 → 553 |
Glypican |
Family |
|
Sequence |
|
Sequence length |
556 |
Interactions |
View interactions |