RAPGEF6 - Rap guanine nucleotide exchange factor 6 Gene

Also Known as RAGEF2; PDZGEF2; KIA001LB; PDZ-GEF2; RA-GEF-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51735

About RAPGEF6

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:131,423,921-131,635,229 (from NCBI)

This gene has 16 transcripts (splice variants), 209 orthologues and 24 paralogues. Ubiquitous expression in lymph node (RPKM 9.8), appendix (RPKM 6.5) and 24 other tissues.

Summary

Enables several functions, including GTP-dependent protein binding activity; guanyl-nucleotide exchange factor activity; and phosphatidic acid binding activity. Involved in microvillus assembly; positive regulation of GTPase activity; and protein localization to plasma membrane. Located in several cellular components, including apical plasma membrane; centrosome; and endocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022]

RAPGEF6 Products (6)

mRNA	Protein	Name
NM_001164386.2	NP_001157858.1	rap guanine nucleotide exchange factor 6 isoform 1
NM_001164387.2	NP_001157859.1	rap guanine nucleotide exchange factor 6 isoform 3
NM_001164388.2	NP_001157860.1	rap guanine nucleotide exchange factor 6 isoform 4
NM_001164389.2	NP_001157861.1	rap guanine nucleotide exchange factor 6 isoform 5
NM_001164390.2	NP_001157862.1	rap guanine nucleotide exchange factor 6 isoform 6
NM_016340.6	NP_057424.3	rap guanine nucleotide exchange factor 6 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTP-dependent protein binding	IDA IDA: Inferred from direct assay	11524421	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	11524421	GOA
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	22797597	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12095257	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	11524421	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in establishment of endothelial intestinal barrier	IMP IMP: Inferred from mutant phenotype	23885123	GOA
involved in microvillus assembly	IGI IGI: Inferred from genetic interaction	22797597	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	22797597	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	22797597	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	22797597	GOA
located in cytosol	IDA IDA: Inferred from direct assay	22797597	GOA
located in endocytic vesicle	IDA IDA: Inferred from direct assay	22797597	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11524421	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAPGEF6 Protein Structure

cNMP_binding

RasGEF_N

PDZ

RA

RasGEF

0
300
600
900
1200
1500
1601 a.a.

Protein Preferred Names	Protein Names
rap guanine nucleotide exchange factor 6	PDZ domain containing guanine nucleotide exchange factor (GEF) 2

RAPGEF6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RAPGEF6	Q8TEU7	PTPN13	Homo sapiens	Q12923	Biophysical	17240990

Cross: Cross-species interaction Intra: Intraspecies interaction

RAPGEF6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810203	RAPGEF6 Antibody (YA9547)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11665	RAPGEF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RAPGEF6	RGD	RGD:1307645
Mus musculus	RAPGEF6	MGD	MGI:2384761