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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84628
Gene name	Netrin G2
Gene symbol	NTNG2
Synonyms (NCBI Gene)	LHLL9381Lmnt2NEDBASHNTNG1NetrinG2bA479K20.1
Chromosome	9
Chromosome location	9q34.13

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1227245973	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1589440982	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1589441229	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1589441428	->T	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1589441679	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1589568476	C>G	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs1589568530	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs1589576879	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT613990	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT613989	hsa-miR-2054	HITS-CLIP	23824327
MIRT613988	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT613987	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613990	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT613989	hsa-miR-2054	HITS-CLIP	23824327
MIRT613988	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT613987	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1196196	hsa-miR-1291	CLIP-seq
MIRT1196197	hsa-miR-1908	CLIP-seq
MIRT1196198	hsa-miR-2277-5p	CLIP-seq
MIRT1196199	hsa-miR-4311	CLIP-seq
MIRT1196200	hsa-miR-4466	CLIP-seq
MIRT1196201	hsa-miR-4706	CLIP-seq
MIRT1196202	hsa-miR-4749-5p	CLIP-seq
MIRT1196203	hsa-miR-663	CLIP-seq
MIRT1196204	hsa-miR-675	CLIP-seq
MIRT1196205	hsa-miR-744	CLIP-seq
MIRT1196206	hsa-miR-939	CLIP-seq
MIRT1196200	hsa-miR-4466	CLIP-seq
MIRT1196201	hsa-miR-4706	CLIP-seq
MIRT1196202	hsa-miR-4749-5p	CLIP-seq
MIRT1196204	hsa-miR-675	CLIP-seq
MIRT1196205	hsa-miR-744	CLIP-seq
MIRT1196206	hsa-miR-939	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21946559
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	ISS
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0010975	Process	Regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0098552	Component	Side of membrane	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098698	Process	Postsynaptic specialization assembly	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099560	Process	Synaptic membrane adhesion	IEA
GO:0150011	Process	Regulation of neuron projection arborization	IEA
GO:0150011	Process	Regulation of neuron projection arborization	ISS
GO:1905606	Process	Regulation of presynapse assembly	IEA
GO:2001222	Process	Regulation of neuron migration	IEA
GO:2001222	Process	Regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
618689	14288	ENSG00000196358

Q96CW9

Protein name

Netrin-G2 (Laminet-2)

Protein function

Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites.

PDB

3TBD , 3ZYG , 3ZYI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00055	Laminin_N	39 → 285	Laminin N-terminal (Domain VI)	Family
PF00053	Laminin_EGF	287 → 344	Laminin EGF domain	Domain
PF00053	Laminin_EGF	353 → 406	Laminin EGF domain	Domain
PF00053	Laminin_EGF	409 → 456	Laminin EGF domain	Domain

Sequence

MLHLLALFLHCLPLASGDYDICKSWVTTDEGPTWEFYACQPKVMRLKDYVKVKVEPSGIT
CGDPPERFCSHENPYLCSNECDASNPDLAHPPRLMFDKEEEGLATYWQSITWSRYPSPLE
ANITLSWNKTVELTDDVVMTFEYGRPTVMVLEKSLDNGRTWQPYQFYAEDCMEAFGMSAR
RARDMSSSSAHRVLCTEEYSRWAGSKKEKHVRFEVRDRFAIFAGPDLRNMDNLYTRLESA
KGLKEFFTLTDLRMRLLRPALGGTYVQRENLYKYFYAISNIEVIGRCKCNLHANLCSMRE
GSLQCECEHNTTGPDCGKCKKNFRTRSWRAGSYLPLPHGSPNACATAGSFGNCECYGHSN
RCSYIDFLNVVTCVSCKHNTRGQHCQHCRLGYYRNGSAELDDENVCIECNCNQIGSVHDR
CNETGFCECREGAAGPKCDDCLPTHYWRQGCYPNVCDDDQLLCQNGGTCLQNQRCACPRG
YTGVRCEQPRCDPADDDGGLDCDRAPGAAPRPATLLGCLLLLGLAARLGR

Sequence length

530

Interactions

View interactions

	KEGG		Reactome
	Axon guidance Cell adhesion molecules		Post-translational modification: synthesis of GPI-anchored proteins

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs2130728045	RCV001814439
Areflexia	Pathogenic	rs1589441428	RCV000851301
Generalized hypotonia	Pathogenic	rs1589441428	RCV000851301
Global developmental delay	Pathogenic	rs1589441428	RCV000851301
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1589440982, rs1589441229, rs1227245973, rs1589568476, rs1589576879	RCV000852334 RCV000852331 RCV000852336 RCV000852333 RCV000852330
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	Pathogenic; Likely pathogenic	rs1589441428, rs1589440982, rs1589441229, rs1227245973, rs1589568476, rs1589576879	RCV000984633 RCV000984637 RCV000984635 RCV004768715 RCV000984636 RCV000984634
Stereotypical hand wringing	Pathogenic	rs1589441428	RCV000851301

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs113770003	RCV005907553
Cervical cancer	Benign	rs113770003	RCV005907554
Developmental and epileptic encephalopathy, 27	Conflicting classifications of pathogenicity	rs1840794100	RCV005860211
Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Uncertain significance	rs147689661	RCV003338104
Neurodevelopmental disorder with hypotonia, seizures, and absent language	Uncertain significance	rs1589441679, rs1589568530	RCV001254721 RCV001254722

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autistic Disorder	Associate	31668703
Bipolar Disorder	Stimulate	20079890
Body Dysmorphic Disorders	Associate	31668703
Cognition Disorders	Associate	30656857
Developmental Disabilities	Associate	31668703
Intellectual Disability	Associate	31668703
Mental Disorders	Associate	31668703
Muscle Weakness	Associate	31668703
Neoplasms	Associate	32251318

NTNG2 (netrin G2)