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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NGEF Gene

protein-coding GIFtS: 59
GCID: GC02M233707

neuronal guanine nucleotide exchange factor

Explore 3 diseases affiliated with
NGEF 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
Neuronal Guanine Nucleotide Exchange Factor¹ ² ³
ARHGEF27¹ ²
Eph-Interacting Exchange Protein² ³
EPHEXIN²
Ephexin-1¹

External Ids:	HGNC: 7807¹	Entrez Gene: 25791²	Ensembl: ENSG00000066248⁷	OMIM: 605991⁵	UniProtKB: Q8N5V2³

Export aliases for NGEF gene to outside databases

Previous GC identifers: GC02M231800 GC02M232472 GC02M233945 GC02M233568 GC02M233451 GC02M225592

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

UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2

Function: Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and

CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis.

Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated

RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity)

(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 NGEF gene promoter:
AhR Brachyury POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 Arnt N-Myc MEF-2A aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NGEF promoter sequence

Search SABiosciences Chromatin IP Primers for NGEF

Epigenetics:

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

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

Entrez Gene cytogenetic band: 2q37 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M233707: view genomic region (about GC identifiers)

Start:	233,743,396 bp from pter	End:	233,877,982 bp from pter
Size:	134,587 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: NGEF_HUMAN, Q8N5V2 (See protein sequence)

Recommended Name: Ephexin-1

Size: 710 amino acids; 82496 Da

Subunit: Interacts with CDK5R1 and EPHA4; activated by EPHA4 through the CDK5 kinase (By similarity)

Subcellular location: Cytoplasm (By similarity). Membrane (By similarity). Cell projection, growth cone (By

similarity). Note=Associated with membranes. Localizes to axonal growth cones (By similarity)

Sequence caution: Sequence=AAH73962.1; Type=Erroneous initiation; Sequence=AAX93288.1; Type=Erroneous initiation;

Sequence=CAC00686.1; Type=Frameshift; Positions=156;

Secondary accessions: B4DMB8 B9A045 E9PC42 Q53QQ4 Q53ST7 Q6GMQ5 Q9NQD6

Alternative splicing: 3 isoforms: Q8N5V2-1 Q8N5V2-2 Q8N5V2-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NGEF: NX_Q8N5V2

Post-translational modifications:

Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity toward

RHOA. Phosphorylation by CDK5 upon EPHA4 activation by EFNA1 may regulate dendritic spine morphogenesis (By

similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N5V2

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

REFSEQ proteins (2 alternative transcripts):

NP_001107562.1 NP_062824.2

ENSEMBL proteins:

ENSP00000264051 ENSP00000362653 ENSP00000387591 ENSP00000401063 ENSP00000412614

ENSP00000407544 ENSP00000387033 ENSP00000405053 ENSP00000439035

Reactome Protein details: Q8N5V2
Human Recombinant Protein Products:

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	Novus Biologicals NGEF Protein Novus Biologicals NGEF Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NGEF

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IDA	--
GO:0030426	growth cone	IEA	--

NGEF for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NGEF

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

NGEF for domains About GeneDecksing

4 InterPro domains/families:

IPR000219 DH-domain

IPR001849 Pleckstrin_homology

IPR001452 SH3_domain

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q8N5V2

ProtoNet protein and cluster: Q8N5V2

3 Blocks protein families:

IPB000219 DH domain

IPB001452 SH3 domain signature

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2

Domain: The DH domain and the PH domain are both required to mediate interaction with EPHA4 (By similarity)

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 SH3 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: NGEF_HUMAN, Q8N5V2

Function: Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and

CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis.

Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated

RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NGEF Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NGEF
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate NGEF:
		hsa-miR-200c hsa-miR-429 hsa-miR-155 hsa-miR-200b hsa-miR-3145-3p hsa-miR-103a-2* hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: NGEF 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 NGEF (see all 7) OriGene shRNA RFP: NGEF OriGene siRNA: NGEF
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NGEF

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NGEF

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NGEF

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NGEF
		Search LifeMap BioReagents cell lines for NGEF

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NGEF

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005543	phospholipid binding	IEA	--

NGEF for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for NGEF:

Decreased TP53 protein express

Decreased Wnt reporter activit

Animal Models:
Mouse knock-out Ngef^tm1Meg for NGEF
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ngef):

cellular

nervous system

NGEF 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 - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell death signalling via NRAGE, NRIF and NADE

Cell death signalling via NRAGE, NRIF and NADE	1.00	G alpha (12/13) signalling events	0.39
NRAGE signals death through JNK	0.74	Rho GTPase cycle	0.25
p75 NTR receptor-mediated signalling	0.73	Signaling by Rho GTPases	0.25

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

G-protein signaling_RhoA regulation pathway

	G-protein signaling_RhoA regulation pathway	1.00			EphrinA-EphR Signaling	0.26
	G-protein signaling RhoA regulation pathway	1.00

Cell adhesion_Ephrins signaling

Cell adhesion Ephrins signaling

1.00

Cell adhesion_Ephrins signaling

1.00

Neurophysiological process Receptor-mediated axon growth repulsion

Neurophysiological process Receptor-mediated axon growth repulsion

1.00

Neurophysiological process_Receptor-mediated axon growth repulsion

0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for NGEF

	Neurophysiological process Receptor-mediated axon growth repulsion
	Cell adhesion Ephrins signaling
	G-protein signaling RhoA regulation pathway

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NGEF

	RhoA Pathway
	Guidance Cues and Growth Cone Motility
	Ephrin-Eph Signaling
	EphrinA-EphR Signaling

3 GeneGo (Thomson Reuters) Pathways for NGEF

	Neurophysiological process Receptor-mediated axon growth repulsion
	G-protein signaling RhoA regulation pathway
	Cell adhesion Ephrins signaling

4 BioSystems Pathways for NGEF

	EPHA forward signaling
	Regulation of RAC1 activity
	Regulation of CDC42 activity
	Regulation of RhoA activity

5/10 Reactome Pathways for NGEF (see all 10)

	GPCR downstream signaling
	Signaling by Rho GTPases
	G alpha (12/13) signalling events
	Cell death signalling via NRAGE, NRIF and NADE
	Signaling by GPCR

1 Kegg Pathway (Kegg details for NGEF):

Axon guidance

NGEF for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/30 Interacting proteins for NGEF (Q8N5V2^{2, 3} ENSP00000264051⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RHOA	P61586²^,³, ENSP00000400175⁴	MINT-6504242 I2D: score=1 STRING: ENSP00000400175
ATP5C1	P36542²^,³	MINT-63707 I2D: score=5
C7orf25	Q9BPX7²^,³	MINT-8250054 I2D: score=2
C8orf33	Q9H7E9²^,³	MINT-8250479 I2D: score=2
FAM118B	Q9BPY3²^,³	MINT-8255174 I2D: score=2

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0009987	cellular process	--	--
GO:0035023	regulation of Rho protein signal transduction	IEA	--
GO:0043087	regulation of GTPase activity	ISS	--

NGEF 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 NGEF

3 HMDB Compounds for NGEF About this table

Compound	Synonyms	CAS #	PubMed Ids
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 NGEF

(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 NGEF gene (2 alternative transcripts):

NM_001114090.1 NM_019850.2

Unigene Cluster for NGEF:

Neuronal guanine nucleotide exchange factor

Hs.97316 [show with all ESTs]

Unigene Representative Sequence: NM_019850

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

ENST00000264051(uc010zmm.1 uc010fyg.1 uc002vts.2) ENST00000373552

ENST00000424488 ENST00000489127 ENST00000461944 ENST00000416114 ENST00000458735

ENST00000420650 ENST00000409079(uc002vtt.2) ENST00000414326 ENST00000539537

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NGEF Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NGEF
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate NGEF:
		hsa-miR-200c hsa-miR-429 hsa-miR-155 hsa-miR-200b hsa-miR-3145-3p hsa-miR-103a-2* hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: NGEF 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 NGEF (see all 7) OriGene shRNA RFP: NGEF OriGene siRNA: NGEF
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NGEF

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NGEF (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NGEF (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NGEF

Additional cDNA sequence:

AJ238899.1 AK025225.1 AK293203.1 AK297390.1 AK298315.1 AK300953.1 BC031573.1 BC073962.1

9 DOTS entries:

DT.100025352 DT.100740682 DT.120969018 DT.405172 DT.120968982 DT.120969098 DT.75181054 DT.111601

DT.40188493

1 AceView cDNA sequence:

AK025225

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

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

About this image

NGEF expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.97316

UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2

Tissue specificity: Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala and

hippocampus. Also detected in lung

SABiosciences Expression via Pathway-Focused PCR Array including NGEF:

Huntington's Disease in human mouse rat

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

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NGEF

(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 NGEF gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NGEF¹	neuronal guanine nucleotide exchange factor	82.05(n) 91.1(a)		424744 NM_001010841.1 NP_001010841.1
lizard (Anolis carolinensis)	Reptilia	NGEF⁶	--	66(a)	1 ↔ 1	3(35708149-35753834)
zebrafish (Danio rerio)	Actinopterygii	LOC569090¹	ephexin-1-like	57.18(n) 51.81(a)		569090 XM_692454.2 XP_697546.2
fruit fly (Drosophila melanogaster)	Insecta	BcDNA:GH03693³	--	33(a)		--
worm (Caenorhabditis elegans)	Secernentea	K07D4.7a³	--	37(a) (best of 2)		II(4004982-4015768) --

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

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

Paralogs for NGEF gene

ARHGEF19² ARHGEF15² ARHGEF16² ARHGEF26² ARHGEF5²

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

ARHGEF16 ARHGEF19 LOC728377 ARHGEF5 ARHGEF15 DKFZp686N1969

ARHGEF26

NGEF 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
				--	--	--		--	--
rs187397274^1,2		--	233742928(+)	`TGGCAC/GAGATC`	2	--	ds500¹		0	--	--	--	--
rs192394818^1,2		--	233742934(+)	`AGATCA/GTGGTC`	2	--	ds500¹		0	--	--	--	--
rs185606504^1,2		--	233742954(+)	`CAGGAC/TCCCTC`	2	--	ds500¹		0	--	--	--	--
rs146834931^1,2		--	233743016(+)	`TGAAGA/GTGTGA`	2	--	ds500¹		0	--	--	--	--
rs199742075^1,2		--	233743093(+)	`TAGGG-/CCCCCC`	2	--	ds500¹		0	--	--	--	--
rs778371^1,2	C,F,A,H,	--	233743109(-)	`AAGTGT/CCCATG`	2	--	ds500¹		14		NA EA MN WA	1206
rs113110372^1,2		--	233743133(+)	`GTCTTC/TCAAAG`	2	--	ds500¹		2		CSA WA	120
rs190761573^1,2		--	233743139(+)	`CAAAGC/GTGTGT`	2	--	ds500¹		0	--	--	--	--
rs180778070^1,2		--	233743171(+)	`GGGGCA/GTCCCC`	2	--	ds500¹		0	--	--	--	--
rs140666127^1,2		--	233743195(+)	`AGCCCG/TTTCTG`	2	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NGEF (233743396 - 233877982 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for NGEF
5 CNVs: 43275 98170 90336 68243 79016
6 Indels: 26590 90337 61891 79015 26591 63070

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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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NGEF for disorders           About GeneDecksing

OMIM gene information: 605991    OMIM disorders: --

3 diseases for NGEF:    About MalaCards

neuronitis huntington's disease spasticity

Human Genome Epidemiology (HuGE) Navigator: NGEF (3 documents)

Export disorders for NGEF 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 NGEF gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with NGEF)

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Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. (PubMed id 10777665)^{1, 2, 3} Rodrigues N.R.... Davies K.E. (2000)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
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)
EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. (PubMed id 11336673)^{1, 9} Shamah S.M....Greenberg M.E. (2001)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
Identification and analysis of intermediate size nonc oding RNAs in the human fetal brain. (PubMed id 21789175)¹ Yan D....Chen R. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)¹ Takefuji M....Kaibuchi K. (2010)
Complementary quantitative proteomics reveals that tr anscription factor AP-4 mediates E-box-dependent complex formation for transcri ptional repression of HDM2. (PubMed id 19505873)¹ Ku W.C....Chen Y.J. (2009)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 25791	HGNC: 7807	AceView: NGEF.1	Ensembl:ENSG00000066248	euGenes: HUgn25791
ECgene: NGEF	Kegg: 25791	H-InvDB: NGEF

(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 NGEF	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NGEF 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 NGEF gene:
Search GeneIP for patents involving NGEF

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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neuronal guanine nucleotide exchange factor

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neuronal guanine nucleotide exchange factor

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