Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25791
Gene name Gene Name - the full gene name approved by the HGNC.	Neuronal guanine nucleotide exchange factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NGEF
Synonyms (NCBI Gene) Gene synonyms aliases	ARHGEF27, EPHEXIN
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.1

Show/Hide all(23)

miRTarBase ID	miRNA	Experiments
MIRT1184120	hsa-miR-122	CLIP-seq
MIRT1184121	hsa-miR-2110	CLIP-seq
MIRT1184122	hsa-miR-2115	CLIP-seq
MIRT1184123	hsa-miR-2467-3p	CLIP-seq
MIRT1184124	hsa-miR-3125	CLIP-seq
MIRT1184125	hsa-miR-3127-3p	CLIP-seq
MIRT1184126	hsa-miR-3202	CLIP-seq
MIRT1184127	hsa-miR-3916	CLIP-seq
MIRT1184128	hsa-miR-3927	CLIP-seq
MIRT1184129	hsa-miR-4271	CLIP-seq
MIRT1184130	hsa-miR-4451	CLIP-seq
MIRT1184131	hsa-miR-4640-3p	CLIP-seq
MIRT1184132	hsa-miR-4667-5p	CLIP-seq
MIRT1184133	hsa-miR-4700-5p	CLIP-seq
MIRT1184134	hsa-miR-4725-3p	CLIP-seq
MIRT1184135	hsa-miR-4747-5p	CLIP-seq
MIRT1184136	hsa-miR-516a-3p	CLIP-seq
MIRT1184137	hsa-miR-541	CLIP-seq
MIRT1184138	hsa-miR-574-5p	CLIP-seq
MIRT1184139	hsa-miR-648	CLIP-seq
MIRT1184140	hsa-miR-654-5p	CLIP-seq
MIRT1184141	hsa-miR-661	CLIP-seq
MIRT1184142	hsa-miR-877	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	15848799
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030426	Component	Growth cone	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0046875	Function	Ephrin receptor binding	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	ISS
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0061002	Process	Negative regulation of dendritic spine morphogenesis	IEA
GO:0061002	Process	Negative regulation of dendritic spine morphogenesis	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1905806	Process	Regulation of synapse pruning	IEA

MIM	HGNC	e!Ensembl
605991	7807	ENSG00000066248

Protein

UniProt ID

Q8N5V2

Protein name

Ephexin-1 (Eph-interacting exchange protein) (Neuronal guanine nucleotide exchange factor)

Protein 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 b

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	277 → 455	RhoGEF domain	Domain
PF00169	PH	489 → 599	PH domain	Domain
PF00018	SH3_1	619 → 665	SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala and hippocampus. Also detected in lung. {ECO:0000269|PubMed:10777665}.

Sequence

METRESEDLEKTRRKSASDQWNTDNEPAKVKPELLPEKEETSQADQDIQDKEPHCHIPIK
RNSIFNRSIRRKSKAKARDNPERNASCLADSQDNGKSVNEPLTLNIPWSRMPPCRTAMQT
DPGAQEMSESSSTPGNGATPEEWPALADSPTTLTEALRMIHPIPADSWRNLIEQIGLLYQ
EYRDKSTLQEIETRRQQDAEIEDNTNGSPASEDTPEEEEEEEEEEEPASPPERKTLPQIC
LLSNPHSRFNLWQDLPEIRSSGVLEILQPEEIKLQEAMFELVTSEASYYKSLNLLVSHFM
ENERIRKILHPSEAHILFSNVLDVLAVSERFLLELEHRMEENIVISDVCDIVYRYAADHF
SVYITYVSNQTYQERTYKQLLQEKAAFRELIAQLELDPKCRGLPFSSFLILPFQRITRLK
LLVQNILKRVEERSERECTALDAHKELEMVVKACNEGVRKMSRTEQMISIQKKMEFKIKS
VPIISHSRWLLKQGELQQMSGPKTSRTLRTKKLFHEIYLFLFNDLLVICRQIPGDKYQVF
DSAPRGLLRVEELEDQGQTLANVFILRLLENADDREATYMLKASSQSEMKRWMTSLAPNR
RTKFVSFTSRLLDCPQVQCVHPYVAQQPDELTLELADILNILDKTDDGWIFGERLHDQER
GWFPSSMTEEILNPKIRSQNLKECFRVHKMDDPQRSQNKDRRKLGSRNRQ

Sequence length

710

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		NRAGE signals death through JNK Rho GTPase cycle EPHA-mediated growth cone collapse G alpha (12/13) signalling events

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bipolar Disorder	Bipolar disorder	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Injuries	Associate	26340433
Carcinogenesis	Associate	35668076
Colorectal Neoplasms	Associate	35668076
Neoplasms Adipose Tissue	Associate	19461586, 26340433
Obesity Abdominal	Associate	26340433

NGEF (neuronal guanine nucleotide exchange factor)