VSTM2A (V-set and transmembrane domain containing 2A)

Gene

• Entrez ID: 222008
• Gene name: V-set and transmembrane domain containing 2A
• Gene symbol: VSTM2A
• Synonyms (NCBI Gene): VSTM2
• Chromosome: 7
• Chromosome location: 7p11.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005634	Component	Nucleus	IDA	28052263
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	28052263
GO:0010884	Process	Positive regulation of lipid storage	IMP	28052263
GO:0016020	Component	Membrane	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0070352	Process	Positive regulation of white fat cell proliferation	IEA
GO:0070352	Process	Positive regulation of white fat cell proliferation	IMP	28052263
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:0090336	Process	Positive regulation of brown fat cell differentiation	IEA
GO:0090336	Process	Positive regulation of brown fat cell differentiation	IMP	28052263

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8TAG5
• Protein name: V-set and transmembrane domain-containing protein 2A
• Protein function: Plays a role in the regulation of the early stage of white and brown preadipocyte cell differentiation. Promotes adipogenic commitment of preadipocytes by increasing gene expression of the transcription factor PPARG in a BMP4-dependent signaling
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	31 → 147	Immunoglobulin V-set domain	Domain

• Sequence:

  MMGIFLVYVGFVFFSVLYVQQGLSSQAKFTEFPRNVTATEGQNVEMSCAFQSGSASVYLE
  IQWWFLRGPEDLDPGAEGAGAQVELLPDRDPDSDGTKISTVKVQGNDISHKLQISKVRKK
  DEGLYECRVTDANYGELQEHKAQAYLKVNANSHARRMQAFEASPMWLQDMKPRKNVSAAI
  PSSIHGSANQRTHSTSSPQVVAKIPKQSPQSGARIATSHGLSVLLLVCGFVKGALL

• Sequence length: 236

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
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colon Carcinoma	Colon Carcinoma	BEFREE	31588233		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31588233		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37076536	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36377597	Associate	★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31588233		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30285995		★☆☆☆☆ Found in Text Mining only