VWC2 (von Willebrand factor C domain containing 2)

Gene

• Entrez ID: 375567
• Gene name: Von Willebrand factor C domain containing 2
• Gene symbol: VWC2
• Synonyms (NCBI Gene): PSST739, UNQ739
• Chromosome: 7
• Chromosome location: 7p12.2
• Summary: This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1488350	hsa-miR-203	CLIP-seq
MIRT1488351	hsa-miR-2052	CLIP-seq
MIRT1488352	hsa-miR-4307	CLIP-seq
MIRT1488353	hsa-miR-578	CLIP-seq
MIRT1488354	hsa-miR-587	CLIP-seq
MIRT1488355	hsa-miR-653	CLIP-seq
MIRT1488356	hsa-miR-885-5p	CLIP-seq
MIRT2147034	hsa-miR-3647-3p	CLIP-seq
MIRT2147035	hsa-miR-4318	CLIP-seq
MIRT2147036	hsa-miR-4693-5p	CLIP-seq
MIRT2147037	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005614	Component	Interstitial matrix	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS	17400546
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS	17400546
GO:0031012	Component	Extracellular matrix	IEA
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS	17400546
GO:0098890	Component	Extrinsic component of postsynaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA

Other IDs

• MIM: 611108
• HGNC: 30200
• e!Ensembl: ENSG00000188730

Protein

• UniProt ID: Q2TAL6
• Protein name: Brorin (Brain-specific chordin-like protein) (von Willebrand factor C domain-containing protein 2)
• Protein function: BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	218 → 273	von Willebrand factor type C domain	Family

• Sequence:

  MPSSTAMAVGALSSSLLVTCCLMVALCSPSIPLEKLAQAPEQPGQEKREHASRDGPGRVN
  ELGRPARDEGGSGRDWKSKSGRGLAGREPWSKLKQAWVSQGGGAKAGDLQVRPRGDTPQA
  EALAAAAQDAIGPELAPTPEPPEEYVYPDYRGKGCVDESGFVYAIGEKFAPGPSACPCLC
  TEEGPLCAQPECPRLHPRCIHVDTSQCCPQCKERKNYCEFRGKTYQTLEEFVVSPCERCR
  CEANGEVLCTVSACPQTECVDPVYEPDQCCPICKNGPNCFAETAVIPAGREVKTDECTIC
  HCTYEEGTWRIERQAMCTRHECRQM

• Sequence length: 325

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Glioma	Glioma	Pubtator	29718398	Associate	★☆☆☆☆ Found in Text Mining only