RAPGEF4 - Rap guanine nucleotide exchange factor 4 Gene

Also Known as EPAC; CGEF2; EPAC2; EPAC 2; Nbla00496; CAMP-GEFII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11069

About RAPGEF4

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:172,735,318-173,052,893 (from NCBI)

This gene has 15 transcripts (splice variants), 274 orthologues and 24 paralogues. Biased expression in brain (RPKM 37.0), adrenal (RPKM 17.3) and 12 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane and regulation of postsynapse organization. Predicted to act upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; regulation of exocytosis; and secretion by cell. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density. Implicated in autistic disorder. [provided by Alliance of Genome Resources, Apr 2022]

RAPGEF4 Products (18)

mRNA Protein Name
NM_001100397.2 NP_001093867.1 rap guanine nucleotide exchange factor 4 isoform b
NM_001282899.2 NP_001269828.1 rap guanine nucleotide exchange factor 4 isoform c
NM_001282900.2 NP_001269829.1 rap guanine nucleotide exchange factor 4 isoform d
NM_001282901.2 NP_001269830.1 rap guanine nucleotide exchange factor 4 isoform e
NM_001375864.1 NP_001362793.1 rap guanine nucleotide exchange factor 4 isoform f
NM_001375865.1 NP_001362794.1 rap guanine nucleotide exchange factor 4 isoform g
NM_001375866.1 NP_001362795.1 rap guanine nucleotide exchange factor 4 isoform h
NM_001375867.1 NP_001362796.1 rap guanine nucleotide exchange factor 4 isoform i
NM_001375868.1 NP_001362797.1 rap guanine nucleotide exchange factor 4 isoform j
NM_001375869.1 NP_001362798.1 rap guanine nucleotide exchange factor 4 isoform k
NM_001375870.1 NP_001362799.1 rap guanine nucleotide exchange factor 4 isoform l
NM_001375871.1 NP_001362800.1 rap guanine nucleotide exchange factor 4 isoform m
NM_001375872.1 NP_001362801.1 rap guanine nucleotide exchange factor 4 isoform n
NM_001375873.1 NP_001362802.1 rap guanine nucleotide exchange factor 4 isoform o
NM_001375874.1 NP_001362803.1 rap guanine nucleotide exchange factor 4 isoform p
NM_001375875.1 NP_001362804.1 rap guanine nucleotide exchange factor 4 isoform q
NM_001375876.1 NP_001362805.1 rap guanine nucleotide exchange factor 4 isoform r
NM_007023.4 NP_008954.2 rap guanine nucleotide exchange factor 4 isoform a

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Referencias Source
enables guanyl-nucleotide exchange factor activity EXP
EXP: Inferred from Experiment
15334074 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11438518 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

RAPGEF4 Protein Structure

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (63 - 151)

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (221 - 289)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (379 - 458)

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (500 - 605)

RA

RA: Ras association (RalGDS/AF-6) domain (671 - 743)

RasGEF

RasGEF: RasGEF domain (771 - 953)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1011 a.a.
Protein Preferred Names Protein Names

rap guanine nucleotide exchange factor 4

  • RAP guanine-nucleotide-exchange factor (GEF) 4

RAPGEF4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
RAPGEF4 Q8WZA2 UBE2A Homo sapiens P49459
Y2H Pooling
32814053
Intra
RAPGEF4 Q8WZA2 UBE2A Homo sapiens P49459
Validated Y2H
32814053
Intra
RAPGEF4 Q8WZA2 UBE2A Homo sapiens P49459
Y2H Array
32814053
Intra
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Y2H Array
24722188
Intra
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Y2H Pooling
32814053
Intra
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Validated Y2H
32814053
Intra
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Y2H Array
32814053
Intra
RAPGEF4 Q8WZA2 SSB Homo sapiens P05455
Y2H Pooling
32814053
Intra
RAPGEF4 Q8WZA2 SSB Homo sapiens P05455
Validated Y2H
32814053
Intra
RAPGEF4 Q8WZA2 SSB Homo sapiens P05455
Y2H Array
32814053
Intra
RAPGEF4 Q8WZA2 BMERB1 Homo sapiens Q96MC5
Y2H Array
24722188
Intra
RAPGEF4 Q8WZA2 BMERB1 Homo sapiens Q96MC5
Y2H Prey Pooling
25416956
Intra
RAPGEF4 Q8WZA2 BMERB1 Homo sapiens Q96MC5
Validated Y2H
25416956
Intra
RAPGEF4 Q8WZA2 DEF6 Homo sapiens Q9H4E7
Validated Y2H
32296183
Intra
RAPGEF4 Q8WZA2 DEF6 Homo sapiens Q9H4E7
Y2H Prey Pooling
32296183
Intra
RAPGEF4 Q8WZA2 DEF6 Homo sapiens Q9H4E7
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

RAPGEF4 Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P82578 Epac2 Antibody (YA2323) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Lesch-Nyhan Syndrome

  • Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • LNS

  • Hprt Deficiency

  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

  • X-Linked Hyperuricemia

  • Choreoathetosis Self-Mutilation Syndrome

  • Hprt1 Deficiency

  • Hprt Deficiency, Complete

  • Deficiency Of Imp Pyrophosphorylase

  • Hgprt Deficiency

  • Lesch-Nyhan Disease

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

  • Hg-Prt Deficiency

  • Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

  • Lesch - Nyhan Syndrome

  • Hprt1 Disorders

  • Lesch Nyhan Syndrome

  • Complete Hprt Deficiency Complete

  • Lesch Nyhan Disease

  • Complete Hprt Deficiency

  • Deficiency Of Guanine Phosphoribosyltransferase

  • Deficiency Of Hypoxanthine Phosphoribosyltransferase

  • Hypoxanthine Phosphoribosyltransferase Deficiency

  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

  • Juvenile Hyperuricemia Syndrome

  • Lnd

  • Primary Hyperuricemia Syndrome

  • Total Hprt Deficiency

  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

  • X-Linked Primary Hyperuricemia

  • X-Linked Uric Aciduria Enzyme Defect

  • Hprt Complete Deficiency

  • Hprt Deficiency Grade Iv

  • Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

  • Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

  • Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Queensland Tick Typhus

  • Australian Tick Typhus

  • North Queensland Tick Typhus

  • Rickettsia Australis Spotted Fever
Inhalation Anthrax

  • Pulmonary Anthrax

  • Respiratory Anthrax

  • Inhalational Anthrax

  • Wool-Sorters' Disease

  • Woolsorters' Disease

  • Inhalation Anthrax Disease

  • Respiratory Anthrax Disease
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Polycystic Liver Disease

  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS11663 RAPGEF4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21252 Rapgef4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27769 Rapgef4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RAPGEF4 VGNC VGNC:64493
Bos taurus RAPGEF4 VGNC VGNC:33725
Rattus norvegicus RAPGEF4 RGD RGD:621886
Macaca mulatta RAPGEF4 VGNC VGNC:76490
Mus musculus RAPGEF4 MGD MGI:1917723
Canis familiaris RAPGEF4 VGNC VGNC:53103
Others RAPGEF4 NCBI