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: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

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Abdominal Injuries	Associate	26340433	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	35668076	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	35668076	★☆☆☆☆ Found in Text Mining only
Neoplasms Adipose Tissue	Associate	19461586, 26340433	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Associate	26340433	★☆☆☆☆ Found in Text Mining only