Identity
HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
KIA001LB,PDZ-GEF2,PDZGEF2,RA-GEF-2,RAGEF2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51735
MIM: 610499
HGNC: 20655
Ensembl: ENSG00000158987
Variants:
dbSNP: 51735
ClinVar: 51735
TCGA: ENSG00000158987
COSMIC: RAPGEF6
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Tight junction | KEGG | ko04530 |
| Tight junction | KEGG | hsa04530 |
| Rap1 signaling pathway | KEGG | hsa04015 |
| Rap1 signaling pathway | KEGG | ko04015 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 24858808 | 2014 | The PDZ domain of the guanine nucleotide exchange factor PDZGEF directs binding to phosphatidic acid during brush border formation. | 7 |
| 24858808 | 2014 | The PDZ domain of the guanine nucleotide exchange factor PDZGEF directs binding to phosphatidic acid during brush border formation. | 7 |
| 20800573 | 2010 | BAG3 directly associates with guanine nucleotide exchange factor of Rap1, PDZGEF2, and regulates cell adhesion. | 32 |
| 20800573 | 2010 | BAG3 directly associates with guanine nucleotide exchange factor of Rap1, PDZGEF2, and regulates cell adhesion. | 32 |
| 19176753 | 2009 | Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. | 101 |
| 19176753 | 2009 | Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. | 101 |
| 18585005 | 2008 | The RapGEF PDZ-GEF2 is required for maturation of cell-cell junctions. | 21 |
| 18718982 | 2008 | Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. | 14 |
| 18718982 | 2008 | Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. | 14 |
| 18804346 | 2008 | Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. | 10 |
| 18585005 | 2008 | The RapGEF PDZ-GEF2 is required for maturation of cell-cell junctions. | 21 |
| 18718982 | 2008 | Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. | 14 |
| 18718982 | 2008 | Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. | 14 |
| 18804346 | 2008 | Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. | 10 |
| 17030554 | 2006 | Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. | 32 |
Citation
Dessen P
RAPGEF6 (Rap guanine nucleotide exchange factor 6)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/42047/rapgef6
