2. Gene
  3. RAPGEF4 - Rap guanine nucleotide exchange factor 4 Gene

RAPGEF4 - Rap guanine nucleotide exchange factor 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 11069 | Gene type: protein coding

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 Reference 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
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  • 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 Reference
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

Cat. No. Product Name Application 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11663 RAPGEF4 Human Pre-designed siRNA Set A Pre-designed Sets / 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