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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RAPGEF6 Gene

protein-coding GIFtS: 52
GCID: GC05M130759

Rap guanine nucleotide exchange factor (GEF) 6

(Previous name: PDZ domain containing guanine nucleotide exchange factor...)
(Previous symbol: PDZGEF2)

Explore 1 disease affiliated with
RAPGEF6 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) 6¹ ²		PDZ Domain-Containing Guanine Nucleotide Exchange Factor 2² ³
PDZGEF2¹ ² ³ ⁵		RAGEF2² ⁵
PDZ-GEF2¹ ² ³		KIA001LB²
RA-GEF-2¹ ² ³		PDZ Domain-Containing Guanine Nucleotide Exchange Factor I²
PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 2¹ ²		Rap Guanine Nucleotide Exchange Factor 6²

External Ids:	HGNC: 20655¹	Entrez Gene: 51735²	Ensembl: ENSG00000158987⁷	OMIM: 610499⁵	UniProtKB: Q8TEU7³

Export aliases for RAPGEF6 gene to outside databases

Previous GC identifers: GC05M130838 GC05M130789 GC05M125950

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

UniProtKB/Swiss-Prot: RPGF6_HUMAN, Q8TEU7

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

Gene Wiki entry for RAPGEF6

(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_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RAPGEF6 gene promoter:
GR Egr-3 C/EBPbeta Evi-1 YY1 Egr-4 FOXL1 CREB deltaCREB GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RAPGEF6 promoter sequence

Search SABiosciences Chromatin IP Primers for RAPGEF6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPGEF6

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

Entrez Gene cytogenetic band: 5q31.1 Ensembl cytogenetic band: 5q31.1 HGNC cytogenetic band: 5q31.1

RAPGEF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF6 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M130759: view genomic region (about GC identifiers)

Start:	130,759,614 bp from pter	End:	130,970,929 bp from pter
Size:	211,316 bases	Orientation:	minus 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: RPGF6_HUMAN, Q8TEU7 (See protein sequence)

Recommended Name: Rap guanine nucleotide exchange factor 6

Size: 1601 amino acids; 179423 Da

Subunit: Interacts with the second PDZ domain of human PTP1e

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

2 PDB 3D structures from and Proteopedia for RAPGEF6:

2D93 (3D)

3LNY (3D)

Secondary accessions: A3KN82 A5PLL6 B7ZML2 E9PDV7 Q8NI21 Q8TEU6 Q96PC1

Alternative splicing: 6 isoforms: Q8TEU7-1 Q8TEU7-2 Q8TEU7-3 Q8TEU7-4 Q8TEU7-5 Q8TEU7-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPGEF6: NX_Q8TEU7

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8TEU7

RAPGEF6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001157858.1 NP_001157859.1 NP_001157860.1 NP_001157861.1 NP_001157862.1 NP_057424.3

ENSEMBL proteins:

ENSP00000421684 ENSP00000426081 ENSP00000296859 ENSP00000426910 ENSP00000311419

ENSP00000425772 ENSP00000425389 ENSP00000424574 ENSP00000425891 ENSP00000427102

ENSP00000309298

Human Recombinant Protein Products:

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	OriGene Purified Protein: RAPGEF6 Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for RAPGEF6
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	Novus Biologicals RAPGEF6 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RAPGEF6

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IDA	11524421

RAPGEF6 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RAPGEF6

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

RAPGEF6 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

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 Q8TEU7

ProtoNet protein and cluster: Q8TEU7

4 Blocks protein families:

IPB000159 RA domain

IPB000595 Cyclic nucleotide-binding domain

IPB001478 PDZ/DHR/GLGF domain

IPB001895 Guanine-nucleotide dissociation stimulator CDC25

UniProtKB/Swiss-Prot: RPGF6_HUMAN, Q8TEU7

Similarity: Contains 1 cyclic nucleotide-binding domain

Similarity: Contains 1 N-terminal Ras-GEF domain

Similarity: Contains 1 PDZ (DHR) domain

Similarity: Contains 1 Ras-associating 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: RPGF6_HUMAN, Q8TEU7

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

miRNA Products:		OriGene 3'-UTR Clone (see all 6): RAPGEF6 Browse MicroRNA Expression Plasmids
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		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate RAPGEF6 (see all 31):
		hsa-miR-217 hsa-miR-495 hsa-miR-4328 hsa-miR-522 hsa-miR-202 hsa-miR-4263 hsa-miR-410 hsa-miR-570

		SwitchGear 3'UTR luciferase reporter plasmid: RAPGEF6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAPGEF6 (see all 7) OriGene shRNA RFP: RAPGEF6 OriGene siRNA: RAPGEF6
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for RAPGEF6

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		Search LifeMap BioReagents cell lines for RAPGEF6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF6

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	11524421
GO:0017016	Ras GTPase binding	IDA	11524421
GO:0030742	GTP-dependent protein binding	IDA	11524421

RAPGEF6 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for RAPGEF6:

Decreased G3BP1 protein expres

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-out Rapgef6^tm1.1Tkat for RAPGEF6
4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rapgef6):

cellular

hematopoietic system

immune system

no phenotypic analysis

RAPGEF6 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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RAPGEF6

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/8 Interacting proteins for RAPGEF6 (Q8TEU7^{2, 3} ENSP00000296859⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPN13	Q12923²^,³, ENSP00000394794⁴	MINT-8311478 MINT-8311520 MINT-8311503 I2D: score=1 STRING: ENSP00000394794
MRAS	O14807³, ENSP00000289104⁴	I2D: score=2 STRING: ENSP00000289104
RAP1A	P62834³, ENSP00000348786⁴	I2D: score=2 STRING: ENSP00000348786
ABCA1	O95477³, ENSP00000363868⁴	I2D: score=1 STRING: ENSP00000363868
YWHAG	P61981³, ENSP00000306330⁴	I2D: score=1 STRING: ENSP00000306330

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007264	small GTPase mediated signal transduction	--	--
GO:0007265	Ras protein signal transduction	NAS	11524421
GO:0043087	regulation of GTPase activity	NAS	11524421
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	--

RAPGEF6 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RAPGEF6

4 HMDB Compounds for RAPGEF6 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	--

Search CenterWatch for drugs/clinical trials and news about RAPGEF6 / RPGF6

(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 RAPGEF6 gene (6 alternative transcripts):

NM_001164386.1 NM_001164387.1 NM_001164388.1 NM_001164389.1 NM_001164390.1 NM_016340.5

Unigene Cluster for RAPGEF6:

Rap guanine nucleotide exchange factor (GEF) 6

Hs.483329 [show with all ESTs]

Unigene Representative Sequence: NM_001164386

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

ENST00000509018(uc003kvm.2 uc010jdi.2 uc003kvn.2 uc003kvp.2)

ENST00000512611 ENST00000507093 ENST00000296859 ENST00000512052(uc003kvq.3)

ENST00000308008(uc011cxe.2 uc003kvr.3) ENST00000515170 ENST00000510071(uc010jdk.3)

ENST00000504919 ENST00000514179 ENST00000513227 ENST00000504575 ENST00000504039

ENST00000503398 ENST00000307984(uc003kvo.2 uc010jdj.2)

miRNA Products:		OriGene 3'-UTR Clone (see all 6): RAPGEF6 Browse OriGene MicroRNA Expression Plasmids
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		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate RAPGEF6 (see all 31):
		hsa-miR-217 hsa-miR-495 hsa-miR-4328 hsa-miR-522 hsa-miR-202 hsa-miR-4263 hsa-miR-410 hsa-miR-570

		SwitchGear 3'UTR luciferase reporter plasmid: RAPGEF6 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAPGEF6

Additional cDNA sequence:

AF085846.1 AF394782.1 AF478468.1 AF478469.1 AF478567.1 AK056296.1 AK074318.1 AK302640.1

AL832899.1 BC133703.1 BC140820.1 BC142964.1 BC144627.1 BX649095.1

17 DOTS entries:

DT.95338742 DT.442313 DT.215318 DT.101967566 DT.406025 DT.95269706 DT.91640537 DT.427424

DT.437867 DT.91699017 DT.102833188 DT.120807318 DT.120807339 DT.95185759 DT.95293174 DT.100007947

DT.92020518

24/244 AceView cDNA sequences (see all 244):

AW271815 AA831294 AK056296 AA810653 AI018807 AA968724 BE018621 AA828094

AA911005 AI469571 AL597053 AA372699 BX117281 AA704160 AL596926 AW449299

AA436713 BU675061 AI160015 BI792415 AA258023 N64002 F09211 AA864906

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

RAPGEF6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RAPGEF6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Neural Tube

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RAPGEF6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAPGEF6

SOURCE GeneReport for Unigene cluster: Hs.483329

UniProtKB/Swiss-Prot: RPGF6_HUMAN, Q8TEU7

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

SABiosciences Custom PCR Arrays for RAPGEF6

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAPGEF6

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF6

(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 RAPGEF6 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RAPGEF6⁶	Uncharacterized protein	83(a)	1 ↔ 1	13(16937180-17042224)
lizard (Anolis carolinensis)	Reptilia	RAPGEF6⁶	--	80(a)	1 ↔ 1	2(128837290-128941628)
African clawed frog (Xenopus laevis)	Amphibia	Xl.28320²	Xenopus laevis transcribed sequence with weak similarity more	81.94(n)		BJ082141.1
zebrafish (Danio rerio)	Actinopterygii	rapgef6¹	Rap guanine nucleotide exchange factor (GEF) 6	65.19(n) 72.48(a)		335032 XM_002666094.2 XP_002666140.2
fruit fly (Drosophila melanogaster)	Insecta	Gef26⁶	Gef26	32(a)	1 → many	2L(6323767-6332789)
worm (Caenorhabditis elegans)	Secernentea	pxf-1⁶	PDZ eXchange Factor family member (pxf-1)	32(a)	1 → many	IV(10164309-10174319)

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

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

Paralogs for RAPGEF6 gene

RAPGEF2² RAPGEFL1² RASGEF1A² RAPGEF3² RASGEF1C² RAPGEF4² RASGEF1B² RAPGEF5²

7 SIMAP similar genes for RAPGEF6 using alignment to 7 protein entries: RPGF6_HUMAN (see all proteins):

KIA001LB FNIP1 DKFZp586O1422 RAPGEF2 PDZGEF1 RAPGEF4

RAPGEF3

RAPGEF6 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for RAPGEF6
PGOHUM00000248515

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143355144^1,2		--	130759192(+)	`TTGCGA/TAGAAA`	4	--	int¹		0	--	--	--	--
rs185974514^1,2		--	130759273(+)	`GCATCA/GTGGAG`	4	--	int¹		0	--	--	--	--
rs146763575^1,2		--	130759319(+)	`AGACTC/TTTCTA`	4	--	int¹		0	--	--	--	--
rs111995246^1,2		--	130759457(+)	`CAGATG/TTGACA`	4	--	int¹		1		CSA	2
rs144526026^1,2	C,	--	130759462(+)	`TGACA-/TTAACC`	4	--	int¹		0	--	--	--	--
rs35424969^1,2	C,	--	130759464(+)	`GACATA/TACCAA`	4	--	int¹		1		NA	2
rs199882846^1,2		--	130759464(+)	`ACATA-/TACCAA`	4	--	int¹		0	--	--	--	--
rs182971201^1,2		--	130759472(+)	`CAACAA/GCAAAT`	4	--	int¹		0	--	--	--	--
rs188441419^1,2		--	130759646(+)	`CAATGC/TATTAG`	4	--	ut3¹		0	--	--	--	--
rs145638850^1,2		--	130759683(+)	`TTTACA/GTTCTC`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RAPGEF6 (130759614 - 130970929 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RAPGEF6
1 CNV: 99298
1 Indel: 41346

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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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RAPGEF6 for disorders           About GeneDecksing

OMIM gene information: 610499    OMIM disorders: --

1 disease for RAPGEF6:    About MalaCards

schizophrenia

Human Genome Epidemiology (HuGE) Navigator: RAPGEF6 (2 documents)

Export disorders for RAPGEF6 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 RAPGEF6 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with RAPGEF6)

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Identification and characterization of RA-GEF-2, a Rap guanine nucleotide exchange factor that serves as a downstream target of M- Ras. (PubMed id 11524421)^{1, 2, 3} Gao X.... Kataoka T. (2001)
Characterisation of PDZ-GEFs, a family of guanine nucleotide exchange factors specific for Rap1 and Rap2. (PubMed id 12581858)^{1, 2} Kuiperij H.B.... Zwartkruis F.J.T. (2003)
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. (PubMed id 12095257)^{1, 3} Kozlov G.... Ekiel I. (2002)
Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. (PubMed id 19176753)^{1, 9} Severson E.A....Parkos C.A. (2009)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
BAG3 directly associates with guanine nucleotide exch ange factor of Rap1, PDZGEF2, and regulates cell adhesion. (PubMed id 20800573)¹ Iwasaki M....Takayama S. (2010)
Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. (PubMed id 18718982)¹ Luo X.J....Su B. (2008)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PubMed id 18804346)¹ Edwards T.L....Chen X. (2008)
The RapGEF PDZ-GEF2 is required for maturation of cell-cell junctions. (PubMed id 18585005)¹ DubAc N....Bos J.L. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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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: 51735	HGNC: 20655	AceView: RAPGEF6	Ensembl:ENSG00000158987	euGenes: HUgn51735
ECgene: RAPGEF6	H-InvDB: RAPGEF6

(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)
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Name	Description
PharmGKB entry for RAPGEF6	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RAPGEF6	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for RAPGEF6 gene
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Patent Information for RAPGEF6 gene:
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RAPGEF6 Gene

Rap guanine nucleotide exchange factor (GEF) 6

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RAPGEF6 Gene

Rap guanine nucleotide exchange factor (GEF) 6

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