Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAPGEF6 Gene

Aliases for RAPGEF6 Gene

  • Rap Guanine Nucleotide Exchange Factor 6 2 3 5
  • PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 2 2 3
  • PDZ Domain-Containing Guanine Nucleotide Exchange Factor 2 3 4
  • Rap Guanine Nucleotide Exchange Factor (GEF) 6 2 3
  • PDZ-GEF2 3 4
  • RA-GEF-2 3 4
  • PDZGEF2 3 4
  • PDZ Domain-Containing Guanine Nucleotide Exchange Factor I 3
  • KIA001LB 3
  • RAGEF2 3

External Ids for RAPGEF6 Gene

Previous HGNC Symbols for RAPGEF6 Gene

  • PDZGEF2

Previous GeneCards Identifiers for RAPGEF6 Gene

  • GC05M130838
  • GC05M130789
  • GC05M125950
  • GC05M130759

Summaries for RAPGEF6 Gene

GeneCards Summary for RAPGEF6 Gene

RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6) is a Protein Coding gene. Among its related pathways are Ras signaling pathway. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and GTP-dependent protein binding. An important paralog of this gene is RASGEF1A.

UniProtKB/Swiss-Prot for RAPGEF6 Gene

  • Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.

Gene Wiki entry for RAPGEF6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPGEF6 Gene

Genomics for RAPGEF6 Gene

Regulatory Elements for RAPGEF6 Gene

Promoters for RAPGEF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAPGEF6 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAPGEF6 Gene

Chromosome:
5
Start:
131,423,921 bp from pter
End:
131,635,236 bp from pter
Size:
211,316 bases
Orientation:
Minus strand

Genomic View for RAPGEF6 Gene

Genes around RAPGEF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPGEF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPGEF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPGEF6 Gene

Proteins for RAPGEF6 Gene

  • Protein details for RAPGEF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEU7-RPGF6_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor 6
    Protein Accession:
    Q8TEU7
    Secondary Accessions:
    • A3KN82
    • A5PLL6
    • B7ZML2
    • E9PDV7
    • Q8NI21
    • Q8TEU6
    • Q96PC1

    Protein attributes for RAPGEF6 Gene

    Size:
    1601 amino acids
    Molecular mass:
    179423 Da
    Quaternary structure:
    • Interacts with the second PDZ domain of human PTP1e.

    Three dimensional structures from OCA and Proteopedia for RAPGEF6 Gene

    Alternative splice isoforms for RAPGEF6 Gene

neXtProt entry for RAPGEF6 Gene

Proteomics data for RAPGEF6 Gene at MOPED

Post-translational modifications for RAPGEF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for RAPGEF6 Gene

Domains & Families for RAPGEF6 Gene

Gene Families for RAPGEF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TEU7

UniProtKB/Swiss-Prot:

RPGF6_HUMAN :
  • Contains 1 cyclic nucleotide-binding domain.
Domain:
  • Contains 1 cyclic nucleotide-binding domain.
  • Contains 1 N-terminal Ras-GEF domain.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 Ras-associating domain.
  • Contains 1 Ras-GEF domain.
genes like me logo Genes that share domains with RAPGEF6: view

Function for RAPGEF6 Gene

Molecular function for RAPGEF6 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.

Gene Ontology (GO) - Molecular Function for RAPGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070300 phosphatidic acid binding IDA 22797597
genes like me logo Genes that share ontologies with RAPGEF6: view
genes like me logo Genes that share phenotypes with RAPGEF6: view

Animal Models for RAPGEF6 Gene

MGI Knock Outs for RAPGEF6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAPGEF6 Gene

Localization for RAPGEF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPGEF6 Gene

Cytoplasm. Cell membrane. Note=Upon binding to M-Ras, it translocates to the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAPGEF6 Gene COMPARTMENTS Subcellular localization image for RAPGEF6 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAPGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 11524421
GO:0016324 apical plasma membrane IDA 22797597
genes like me logo Genes that share ontologies with RAPGEF6: view

Pathways & Interactions for RAPGEF6 Gene

SuperPathways for RAPGEF6 Gene

Superpath Contained pathways
1 Ras signaling pathway
genes like me logo Genes that share pathways with RAPGEF6: view

Pathways by source for RAPGEF6 Gene

1 KEGG pathway for RAPGEF6 Gene

SIGNOR curated interactions for RAPGEF6 Gene

Activates:

Gene Ontology (GO) - Biological Process for RAPGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043087 regulation of GTPase activity NAS 11524421
GO:0072659 protein localization to plasma membrane IMP 22797597
GO:0090557 NOT establishment of endothelial intestinal barrier IMP 23885123
genes like me logo Genes that share ontologies with RAPGEF6: view

Drugs & Compounds for RAPGEF6 Gene

(4) Drugs for RAPGEF6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RAPGEF6: view

Transcripts for RAPGEF6 Gene

Unigene Clusters for RAPGEF6 Gene

Rap guanine nucleotide exchange factor (GEF) 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF6 Gene

No ASD Table

Relevant External Links for RAPGEF6 Gene

GeneLoc Exon Structure for
RAPGEF6
ECgene alternative splicing isoforms for
RAPGEF6

Expression for RAPGEF6 Gene

mRNA expression in normal human tissues for RAPGEF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAPGEF6 Gene

This gene is overexpressed in Testis (x17.1).

Protein differential expression in normal tissues from HIPED for RAPGEF6 Gene

This gene is overexpressed in CD8 Tcells (25.9), Peripheral blood mononuclear cells (15.1), and Serum (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAPGEF6 Gene



SOURCE GeneReport for Unigene cluster for RAPGEF6 Gene Hs.483329

mRNA Expression by UniProt/SwissProt for RAPGEF6 Gene

Q8TEU7-RPGF6_HUMAN
Tissue specificity: Isoform 3 has highest expression levels in the brain, heart, liver, lung and placenta and is barely detectable in skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with RAPGEF6: view

Protein tissue co-expression partners for RAPGEF6 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for RAPGEF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPGEF6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAPGEF6 35
  • 92.65 (n)
  • 94.32 (a)
-- 36
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RAPGEF6 35
  • 93.25 (n)
  • 95.03 (a)
-- 36
  • 95 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rapgef6 35
  • 89.15 (n)
  • 91.61 (a)
Rapgef6 16
Rapgef6 36
  • 91 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia RAPGEF6 35
  • 99.61 (n)
  • 99.5 (a)
RAPGEF6 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rapgef6 35
  • 88.49 (n)
  • 91.32 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAPGEF6 35
  • 77.48 (n)
  • 83.52 (a)
-- 36
  • 81 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.28320 35
zebrafish
(Danio rerio)
Actinopterygii rapgef6 35
  • 65.53 (n)
  • 72.69 (a)
rapgef6 36
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gef26 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pxf-1 35
  • 50.48 (n)
  • 42.65 (a)
pxf-1 36
  • 34 (a)
OneToMany
Species with no ortholog for RAPGEF6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RAPGEF6 Gene

ENSEMBL:
Gene Tree for RAPGEF6 (if available)
TreeFam:
Gene Tree for RAPGEF6 (if available)

Paralogs for RAPGEF6 Gene

Pseudogenes.org Pseudogenes for RAPGEF6 Gene

genes like me logo Genes that share paralogs with RAPGEF6: view

Variants for RAPGEF6 Gene

Sequence variations from dbSNP and Humsavar for RAPGEF6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs3756293 - 131,492,605(-) CTGAT(G/T)CAGGA reference, missense
rs34112735 - 131,489,606(-) TGAAA(C/G)CCGTT reference, missense
rs7717835 - 131,431,267(+) AATGA(C/T)ATGCT reference, missense
rs1064539 - 131,429,006(-) CCTCG(A/T)GGCCT intron-variant, reference, missense
rs1291602 - 131,430,969(+) CTCTC(C/T)GTTTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RAPGEF6 Gene

Variant ID Type Subtype PubMed ID
nsv882888 CNV Loss 21882294
esv2730774 CNV Deletion 23290073
esv3284 CNV Deletion 18987735
esv2730775 CNV Deletion 23290073
esv2730776 CNV Deletion 23290073
esv2730777 CNV Deletion 23290073
esv2586698 CNV Deletion 19546169
esv2730778 CNV Deletion 23290073
esv2730779 CNV Deletion 23290073
esv269378 CNV Insertion 20981092
esv273494 CNV Insertion 20981092
esv1452882 CNV Insertion 17803354
nsv509993 CNV Loss 20534489

Variation tolerance for RAPGEF6 Gene

Residual Variation Intolerance Score: 1.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAPGEF6 Gene

HapMap Linkage Disequilibrium report
RAPGEF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEF6 Gene

Disorders for RAPGEF6 Gene

Relevant External Links for RAPGEF6

Genetic Association Database (GAD)
RAPGEF6
Human Genome Epidemiology (HuGE) Navigator
RAPGEF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAPGEF6

No disorders were found for RAPGEF6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAPGEF6 Gene

Publications for RAPGEF6 Gene

  1. Identification and characterization of RA-GEF-2, a Rap guanine nucleotide exchange factor that serves as a downstream target of M- Ras. (PMID: 11524421) Gao X. … Kataoka T. (J. Biol. Chem. 2001) 2 3 4 67
  2. Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. (PMID: 19176753) Severson E.A. … Parkos C.A. (Mol. Biol. Cell 2009) 3 23
  3. Solution structure of the PDZ2 domain from cytosolic human phosphatase hPTP1E complexed with a peptide reveals contribution of the beta2-beta3 loop to PDZ domain-ligand interactions. (PMID: 12095257) Kozlov G. … Ekiel I. (J. Mol. Biol. 2002) 2 3
  4. The PDZ domain of the guanine nucleotide exchange factor PDZGEF directs binding to phosphatidic acid during brush border formation. (PMID: 24858808) Consonni S.V. … Bos J.L. (PLoS ONE 2014) 3
  5. JAM-A associates with ZO-2, afadin, and PDZ-GEF1 to activate Rap2c and regulate epithelial barrier function. (PMID: 23885123) Monteiro A.C. … Parkos C.A. (Mol. Biol. Cell 2013) 3

Products for RAPGEF6 Gene

Sources for RAPGEF6 Gene

Back to Top

Content