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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RAPGEF4 Gene

protein-coding GIFtS: 61
GCID: GC02P173600

Rap guanine nucleotide exchange factor (GEF) 4

(Previous name: RAP guanine-nucleotide-exchange factor (GEF) 4 )

Explore 4 diseases affiliated with
RAPGEF4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Rap Guanine Nucleotide Exchange Factor (GEF) 4¹ ²		CAMP-Regulated Guanine Nucleotide Exchange Factor II² ³
CGEF2¹ ² ³		EPAC 2² ³
RAP Guanine-Nucleotide-Exchange Factor (GEF) 4¹ ²		CAMP-GEFII²
CAMP-GEFII²		Nbla00496²
Exchange Factor Directly Activated By CAMP 2² ³		Putative Protein Product Of Nbla00496²
Exchange Protein Directly Activated By CAMP 2² ³		Rap Guanine Nucleotide Exchange Factor 4²
EPAC2² ³

External Ids:	HGNC: 16626¹	Entrez Gene: 11069²	Ensembl: ENSG00000091428⁷	OMIM: 606058⁵	UniProtKB: Q8WZA2³

Export aliases for RAPGEF4 gene to outside databases

Previous GC identifers: GC02P173804 GC02P173426 GC02P173308 GC02P165478

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RPGF4_HUMAN, Q8WZA2

Function: Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by

binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction

with RIMS2 (By similarity)

Gene Wiki entry for RAPGEF4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RAPGEF4 gene promoter:
STAT1 STAT4 MEF-2 STAT1beta STAT5A STAT1alpha MEF-2A STAT2 STAT3 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RAPGEF4 promoter sequence

Search SABiosciences Chromatin IP Primers for RAPGEF4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPGEF4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31-q32 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31-q32

RAPGEF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF4 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P173600: view genomic region (about GC identifiers)

Start:	173,600,002 bp from pter	End:	173,917,621 bp from pter
Size:	317,620 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPGF4_HUMAN, Q8WZA2 (See protein sequence)

Recommended Name: Rap guanine nucleotide exchange factor 4

Size: 1011 amino acids; 115522 Da

Subunit: Interacts with RIMS1 and RIMS2. Probably part of a complex with RIMS2 and GTP-activated RAB3A (By similarity)

Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein (By similarity)

Secondary accessions: B2R7R3 B7Z912 O95636 Q8IXK6 Q8TAA4

Alternative promoter usage, Alternative splicing: 3 isoforms: Q8WZA2-1 Q8WZA2-2 Q8WZA2-3 (Produced by alternative splicing of isoform 1. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPGEF4: NX_Q8WZA2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WZA2

RAPGEF4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001093867.1 NP_008954.2

ENSEMBL proteins:

ENSP00000380271 ENSP00000387104 ENSP00000380276 ENSP00000380274 ENSP00000264111

ENSP00000440135 ENSP00000440250 ENSP00000437384 ENSP00000438011

Reactome Protein details: Q8WZA2
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	Uscn Proteins for RAPGEF4

Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	--	--
GO:0001917	photoreceptor inner segment	--	--
GO:0005622	intracellular	--	--
GO:0005624	membrane fraction	--	--
GO:0005829	cytosol	IEA	--

RAPGEF4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RAPGEF4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RAPGEF4 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR008937 Ras_GEF

IPR018490 cNMP-bd-like

IPR023578 Ras_GEF_dom

IPR001895 RasGRF_CDC25

IPR000159 Ras-assoc

Graphical View of Domain Structure for InterPro Entry Q8WZA2

ProtoNet protein and cluster: Q8WZA2

5 Blocks protein families:

IPB000159 RA domain

IPB000591 Pleckstrin putative G-protein interacting domain

IPB000595 Cyclic nucleotide-binding domain

IPB001895 Guanine-nucleotide dissociation stimulator CDC25

IPB002373 cAMP-dependent protein kinase signature

UniProtKB/Swiss-Prot: RPGF4_HUMAN, Q8WZA2

Domain: The N-terminal nucleotide phosphate binding region cAMP 1 has a much lower affinity for cAMP as compared to

cAMP 2

Domain: The DEP domain is involved in membrane localization independent from regulation by cAMP (By similarity)

Similarity: Contains 2 cyclic nucleotide-binding domains

Similarity: Contains 1 DEP domain

Similarity: Contains 1 N-terminal Ras-GEF domain

Similarity: Contains 1 Ras-GEF domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RPGF4_HUMAN, Q8WZA2

Function: Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by

binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction

with RIMS2 (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): RAPGEF4 Browse MicroRNA Expression Plasmids
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		hsa-miR-30c hsa-miR-106a hsa-miR-1271 hsa-miR-301a hsa-miR-30d hsa-miR-519a hsa-miR-218 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: RAPGEF4 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF4

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	9856955
GO:0005088	Ras guanyl-nucleotide exchange factor activity	ISS	--
GO:0005515	protein binding	IPI	11438518
GO:0008603	cAMP-dependent protein kinase regulator activity	IEA	--
GO:0017016	Ras GTPase binding	ISS	--

RAPGEF4 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for RAPGEF4:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Rapgef4^tm1.1Sse for RAPGEF4
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rapgef4):

endocrine/exocrine gland

homeostasis/metabolism

RAPGEF4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of Insulin Secretion

	Regulation of Insulin Secretion	1.00			Regulation of Insulin Secretion by Glucagon-like Peptide-1	0.55
	Integration of energy metabolism	0.74

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Integrin alphaIIb beta3 signaling

Integrin alphaIIb beta3 signaling

1.00

Platelet Aggregation (Plug Formation)

0.73

G-protein signaling Rap1A regulation pathway

G-protein signaling Rap1A regulation pathway

1.00

G-protein signaling_Rap1A regulation pathway

0.88

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for RAPGEF4

	G-protein signaling G-Protein alpha-s signaling cascades
	Signal transduction cAMP signaling
	G-protein signaling Rap1A regulation pathway

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAPGEF4

	cAMP Pathway
	GPCR Pathway
	Transendothelial Migration of Leukocytes

3 GeneGo (Thomson Reuters) Pathways for RAPGEF4

	G-protein signaling G-Protein alpha-s signaling cascades
	G-protein signaling Rap1A regulation pathway
	Signal transduction cAMP signaling

5/13 Reactome Pathways for RAPGEF4 (see all 13)

	Hemostasis
	Integrin cell surface interactions
	Metabolism
	Regulation of Insulin Secretion
	Adaptive Immune System

1 Kegg Pathway (Kegg details for RAPGEF4):

Leukocyte transendothelial migration

RAPGEF4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RAPGEF4

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/25 Interacting proteins for RAPGEF4 (Q8WZA2^{2, 3} ENSP00000380271⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATXN1	P54253²^,³, ENSP00000244769⁴	MINT-2869360 I2D: score=3 STRING: ENSP00000244769
RIMS2	Q9UQ26³, ENSP00000386228⁴	I2D: score=4 STRING: ENSP00000390665 STRING: ENSP00000386228
RAP1A	P62834³, ENSP00000348786⁴	I2D: score=2 STRING: ENSP00000348786
MAP1A	P78559³, ENSP00000300231⁴	I2D: score=1 STRING: ENSP00000300231
RIMS1	Q86UR5³, ENSP00000264839⁴	I2D: score=1 STRING: ENSP00000264839

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006112	energy reserve metabolic process	TAS	--
GO:0007165	signal transduction	--	--
GO:0007186	G-protein coupled receptor signaling pathway	TAS	9856955
GO:0007264	small GTPase mediated signal transduction	IEA	--
GO:0007507	heart development	--	--

RAPGEF4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RAPGEF4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for RAPGEF4

Browse Tocris compounds for RAPGEF4

4 HMDB Compounds for RAPGEF4 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

2 Novoseek chemical compound relationships for RAPGEF4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cyclic amp	50	14	16507992 (1), 18660803 (1), 19788733 (1)
calcium	1.92	4	11600673 (2), 11598134 (1)

Search CenterWatch for drugs/clinical trials and news about RAPGEF4 / RPGF4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RAPGEF4 gene (2 alternative transcripts):

NM_001100397.1 NM_007023.3

Unigene Cluster for RAPGEF4:

Rap guanine nucleotide exchange factor (GEF) 4

Hs.470646 [show with all ESTs]

Unigene Representative Sequence: AB209681

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000484331 ENST00000397081 ENST00000498533(uc002uhu.2) ENST00000409036

ENST00000464976(uc010fqn.3) ENST00000397087(uc002uhw.4) ENST00000473003

ENST00000473043 ENST00000466030 ENST00000473182 ENST00000459852 ENST00000397085

ENST00000484645 ENST00000264111(uc002uhv.4) ENST00000538974(uc010zed.1 uc010zef.1)

ENST00000540783(uc010zec.1) ENST00000539331(uc010zee.1 uc010fqo.2 uc010zeg.1)

ENST00000535187(uc010fqp.1 uc010zeh.1)

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		8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate RAPGEF4 (see all 30):
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Additional cDNA sequence:

AB027471.1 AB075513.1 AB209681.1 AK294433.1 AK294445.1 AK294914.1 AK294997.1 AK295002.1

AK296340.1 AK302732.1 AK304278.1 AK310373.1 AK311165.1 AK311500.1 AK311575.1 AK311697.1

AK313084.1 AK316014.1 AK316072.1 BC024004.2 BC040183.2 U78516.1

8 DOTS entries:

DT.107480 DT.99954873 DT.100018395 DT.120966819 DT.120966918 DT.439209 DT.99931192 DT.91644542

24/62 AceView cDNA sequences (see all 62):

Z43857 BX645270 AI205130 AL119792 F07089 AV708028 AB027471 BG547379

BF762294 Z39923 BE889718 AI680002 AL119765 BQ184791 BI548847 BM955820

CA448982 CK005169 CD242673 AI610732 BC024004 AL120018 BI668851 AI613191

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RAPGEF4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTAAAGCTT

About this image
See RAPGEF4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAPGEF4

SOURCE GeneReport for Unigene cluster: Hs.470646

UniProtKB/Swiss-Prot: RPGF4_HUMAN, Q8WZA2

Tissue specificity: Predominantly expressed in brain and adrenal gland. Isoform 2 is expressed in liver. Isoform 1 is

expressed in liver at very low levels

SABiosciences Custom PCR Arrays for RAPGEF4

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RAPGEF4 gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RAPGEF4¹	Rap guanine nucleotide exchange factor (GEF) 4	83.47(n) 92.08(a)		429022 XM_426579.3 XP_426579.3
lizard (Anolis carolinensis)	Reptilia	RAPGEF4⁶	--	88(a)	1 ↔ 1	GL343316.1(1259538-1351535)
zebrafish (Danio rerio)	Actinopterygii	rapgef4¹	Rap guanine nucleotide exchange factor (GEF) 4	71.88(n) 78.96(a)		559170 XM_682486.3 XP_687578.3
fruit fly (Drosophila melanogaster)	Insecta	Epac¹	CG34392-PC	53.5(n) 50.77(a)		35588 NM_001103732.1 NP_001097202.1
worm (Caenorhabditis elegans)	Secernentea	epac-1¹	Protein EPAC-1	46.94(n) 37.49(a)		176432 NM_066855.2 NP_499256.1

ENSEMBL Gene Tree for RAPGEF4 (if available)
TreeFam Gene Tree for RAPGEF4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RAPGEF4 gene

RAPGEF2² RAPGEFL1² RAPGEF6² RASGEF1A² RAPGEF3² RASGEF1C² RASGEF1B² RAPGEF5²

9 SIMAP similar genes for RAPGEF4 using alignment to 7 protein entries: RPGF4_HUMAN (see all proteins):

Nbla00496 CGEF2 RAPGEF3 RAPGEFL1 RAPGEF5 FNIP1

RAPGEF6 DKFZp667A016 DKFZp781H1715

RAPGEF4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34755660^1,2	C,F,	--	165781408(+)	`CATAGC/-CTCAC`	1	--	int¹		4		NA CSA	8
rs7557133^1,2	C,F,A,H,	--	173598596(+)	`CTTCAG/ACTTCT`	2	--	us2k¹ int¹		14		NS EA NA WA CSA	751
rs7583805^1,2	C,F,A,H,	--	173598612(+)	`GAGAAG/AAGGCA`	2	--	int¹ us2k¹ trp³		10		NA WA CSA EA	373
rs187233073^1,2		--	173598921(+)	`TCAGTA/GGATGT`	2	--	int¹ us2k¹		0	--	--	--	--
rs73044846^1,2	C,	--	173599012(+)	`AGCTCC/GTTTCT`	2	--	us2k¹ int¹		2		WA	120
rs3813816^1,2	C,F,A,	--	173599233(-)	`TTATGC/GTAATA`	2	--	us2k¹ int¹		7		WA NA CSA EA	366
rs114832204^1,2	F,	--	173599342(+)	`GATCCT/CGGCTA`	2	--	int¹ us2k¹		1		WA	118
rs3813815^1,2	C,F,H,	--	173599371(-)	`CCAAAT/AATGTG`	2	--	int¹ us2k¹		16		NS EA NA WA CSA	1205
rs192255368^1,2		--	173599500(+)	`TTGGTA/GGGGGG`	2	--	int¹ us2k¹		0	--	--	--	--
rs7587443^1,2	C,F,H,	--	173599510(+)	`GAGGAG/AGCAGG`	2	--	us2k¹ int¹ trp³		3		NS NA	468

HapMap Linkage Disequilibrium report for RAPGEF4 (173600002 - 173850002 bp, first 250kb of RAPGEF4)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for RAPGEF4
1 CNV: 0028
5 Indels: 42852 78857 78859 78858 90132
Human Gene Mutation Database (HGMD): RAPGEF4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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RAPGEF4 for disorders           About GeneDecksing

OMIM gene information: 606058    OMIM disorders: --

4 diseases for RAPGEF4:    About MalaCards

osteoporosis ataxia pancreatitis neuronitis

Human Genome Epidemiology (HuGE) Navigator: RAPGEF4 (6 documents)

Export disorders for RAPGEF4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RAPGEF4 gene, integrated from 9 sources (see all 46):
(articles sorted by number of sources associating them with RAPGEF4)

Utopia: connect your pdf to the dynamic
world of online information

Mechanism of regulation of the Epac family of cAMP-dependent RapGEFs. (PubMed id 10777494)^{1, 2, 3} de Rooij J....Bos J.L. (2000)
A family of cAMP-binding proteins that directly activate rap1. (PubMed id 9856955)^{1, 2, 3} Kawasaki H.... Graybiel A.M. (1998)
Characterization of the gene EPAC2: structure, chromosomal localization, tissue expression, and identification of the liver- specific isoform. (PubMed id 11707077)^{1, 2, 9} Ueno H.... Seino S. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Critical role of cAMP-GEFII--Rim2 complex in incretin-potentiated insulin secretion. (PubMed id 11598134)^{1, 9} Kashima Y....Seino S. (2001)
Anti-inflammatory role of the cAMP effectors Epac and PKA: implications in chronic obstructive pulmonary disease. (PubMed id 22363678)¹ Oldenburger A....Schmidt M. (2012)
Mechanism of intracellular cAMP sensor Epac2 activati on: cAMP-induced conformational changes identified by amide hydrogen/deuterium exchange mass spectrometry (DXMS). (PubMed id 21454623)¹ Li S....Cheng X. (2011)
Genome-wide pleiotropy of osteoporosis-related phenot ypes: The Framingham study. (PubMed id 20200953)¹ Karasik D....Demissie S. (2010)
Exchange protein activated by cyclic AMP 2 (Epac2) pl ays a specific and time-limited role in memory retrieval. (PubMed id 19739231)¹ Ostroveanu A....Nijholt I.M. (2010)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11069	HGNC: 16626	AceView: RAPGEF4	Ensembl:ENSG00000091428	euGenes: HUgn11069
ECgene: RAPGEF4	Kegg: 11069	H-InvDB: RAPGEF4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RAPGEF4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RAPGEF4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RAPGEF4 gene:
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Rap guanine nucleotide exchange factor (GEF) 4

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Rap guanine nucleotide exchange factor (GEF) 4

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