VIT (vitrin)

Gene

• Entrez ID: 5212
• Gene name: Vitrin
• Gene symbol: VIT
• Synonyms (NCBI Gene): VIT1
• Chromosome: 2
• Chromosome location: 2p22.2
• Summary: This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by Re

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022689	hsa-miR-124-3p	Microarray	18668037
MIRT1485080	hsa-miR-4663	CLIP-seq
MIRT1485081	hsa-miR-4738-3p	CLIP-seq
MIRT1485082	hsa-miR-4797-5p	CLIP-seq
MIRT1485083	hsa-miR-628-5p	CLIP-seq
MIRT1485084	hsa-miR-138	CLIP-seq
MIRT1485085	hsa-miR-15a	CLIP-seq
MIRT1485086	hsa-miR-15b	CLIP-seq
MIRT1485087	hsa-miR-16	CLIP-seq
MIRT1485088	hsa-miR-195	CLIP-seq
MIRT1485089	hsa-miR-3168	CLIP-seq
MIRT1485090	hsa-miR-424	CLIP-seq
MIRT1485091	hsa-miR-4422	CLIP-seq
MIRT1485080	hsa-miR-4663	CLIP-seq
MIRT1485092	hsa-miR-4729	CLIP-seq
MIRT1485081	hsa-miR-4738-3p	CLIP-seq
MIRT1485082	hsa-miR-4797-5p	CLIP-seq
MIRT1485093	hsa-miR-497	CLIP-seq
MIRT1485094	hsa-miR-570	CLIP-seq
MIRT1485083	hsa-miR-628-5p	CLIP-seq
MIRT1485095	hsa-miR-935	CLIP-seq
MIRT2145939	hsa-miR-323-3p	CLIP-seq
MIRT2145940	hsa-miR-4753-3p	CLIP-seq
MIRT1485080	hsa-miR-4663	CLIP-seq
MIRT1485081	hsa-miR-4738-3p	CLIP-seq
MIRT1485082	hsa-miR-4797-5p	CLIP-seq
MIRT1485083	hsa-miR-628-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005614	Component	Interstitial matrix	IBA
GO:0005614	Component	Interstitial matrix	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IBA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021510	Process	Spinal cord development	ISS
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IEA

Other IDs

• MIM: 617693
• HGNC: 12697
• e!Ensembl: ENSG00000205221

Protein

• UniProt ID: Q6UXI7
• Protein name: Vitrin
• Protein function: Promotes matrix assembly and cell adhesiveness. Plays a role in spinal cord formation by regulating the proliferation and differentiation of neural stem cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03815	LCCL	38 → 133	LCCL domain	Domain
  PF00092	VWA	293 → 472	von Willebrand factor type A domain	Domain
  PF00092	VWA	495 → 663	von Willebrand factor type A domain	Domain

• Sequence:

  MRTVVLTMKASVIEMFLVLLVTGVHSNKETAKKIKRPKFTVPQINCDVKAGKIIDPEFIV
  KCPAGCQDPKYHVYGTDVYASYSSVCGAAVHSGVLDNSGGKILVRKVAGQSGYKGSYSNG
  VQSLSLPRWRESFIVLESKPKKGVTYPSALTYSSSKSPAAQAGETTKAYQRPPIPGTTAQ
  PVTLMQLLAVTVAVATPTTLPRPSPSAASTTSIPRPQSVGHRSQEMDLWSTATYTSSQNR
  PRADPGIQRQDPSGAAFQKPVGADVSLGLVPKEELSTQSLEPVSLGDPNCKIDLSFLIDG
  STSIGKRRFRIQKQLLADVAQALDIGPAGPLMGVVQYGDNPATHFNLKTHTNSRDLKTAI
  EKITQRGGLSNVGRAISFVTKNFFSKANGNRSGAPNVVVVMVDGWPTDKVEEASRLARES
  GINIFFITIEGAAENEKQYVVEPNFANKAVCRTNGFYSLHVQSWFGLHKTLQPLVKRVCD
  TDRLACSKTCLNSADIGFVIDGSSSVGTGNFRTVLQFVTNLTKEFEISDTDTRIGAVQYT
  YEQRLEFGFDKYSSKPDILNAIKRVGYWSGGTSTGAAINFALEQLFKKSKPNKRKLMILI
  TDGRSYDDVRIPAMAAHLKGVITYAIGVAWAAQEELEVIATHPARDHSFFVDEFDNLHQY
  VPRIIQNICTEFNSQPRN

• Sequence length: 678

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
CEREBRAL ARTERY OCCLUSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	38029923	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30219262		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30219262		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30772494		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28699324, 28926197		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	28699324, 28926197		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19360327		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25575966	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	19360327, 30772494		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	19360327, 30772494		★☆☆☆☆ Found in Text Mining only