NGEF (neuronal guanine nucleotide exchange factor)

Gene

• Entrez ID: 25791
• Gene name: Neuronal guanine nucleotide exchange factor
• Gene symbol: NGEF
• Synonyms (NCBI Gene): ARHGEF27, EPHEXIN
• Chromosome: 2
• Chromosome location: 2q37.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	15848799
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005829	Component	Cytosol	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	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:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0043087	Process	Regulation of GTPase activity	ISS
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	ISS
GO:0090630	Process	Activation of GTPase activity	IBA	21873635

Other IDs

• MIM: 605991
• HGNC: 7807
• e!Ensembl: 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

Pathways

KEGG:

Axon guidance

Reactome:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28540026

Unknown
Disease term	Disease name	Evidence	References	Source
Bipolar Disorder	Bipolar Disorder			GWAS

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