NSG2 (neuronal vesicle trafficking associated 2)

Gene

• Entrez ID: 51617
• Gene name: Neuronal vesicle trafficking associated 2
• Gene symbol: NSG2
• Synonyms (NCBI Gene): CALY3, HMP19
• Chromosome: 5
• Chromosome location: 5q35.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005769	Component	Early endosome	ISS
GO:0005770	Component	Late endosome	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032051	Function	Clathrin light chain binding	IBA
GO:0032051	Function	Clathrin light chain binding	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0032585	Component	Multivesicular body membrane	ISS
GO:0032588	Component	Trans-Golgi network membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0048268	Process	Clathrin coat assembly	IBA
GO:0048268	Process	Clathrin coat assembly	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:1990674	Component	Golgi cis cisterna membrane	IEA
GO:1990674	Component	Golgi cis cisterna membrane	ISS

Other IDs

• MIM: 616752
• HGNC: 24955
• e!Ensembl: ENSG00000170091

Protein

• UniProt ID: Q9Y328
• Protein name: Neuronal vesicle trafficking-associated protein 2 (Neuron-specific protein family member 2) (Protein p19) (Hmp19)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06387	Calcyon	1 → 169	D1 dopamine receptor-interacting protein (calcyon)	Family

• Sequence:

  MVKLNSNPSEKGTKPPSVEDGFQTVPLITPLEVNHLQLPAPEKVIVKTRTEYQPEQKNKG
  KFRVPKIAEFTVTILVSLALAFLACIVFLVVYKAFTYDHSCPEGFVYKHKRCIPASLDAY
  YSSQDPNSRSRFYTVISHYSVAKQSTARAIGPWLSAAAVIHEPKPPKTQGH

• Sequence length: 171

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
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27012470		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39493764	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29112861		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29112861		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27012470		★☆☆☆☆ Found in Text Mining only