VIT (vitrin)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (27)

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) Show/Hide all (12)

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
  PF00092	VWA	495 → 663	von Willebrand factor type A domain	Domain
  PF00092	VWA	293 → 472	von Willebrand factor type A domain	Domain
  PF03815	LCCL	38 → 133	LCCL 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 Show/Hide Unknown Diseases (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CEREBRAL ARTERY OCCLUSION	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	39966646	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	34162658	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	27082954	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	33667223	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HEATR1 2 shared diseasesHypertrophic cardiomyopathy, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Hypertrophic cardiomyopathy), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Hypertrophic cardiomyopathy, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog. STRN 2 shared diseasesHypertrophic cardiomyopathy, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Hypertrophic cardiomyopathy), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Hypertrophic cardiomyopathy, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog. ATAD5 2 shared diseasesOvarian serous carcinoma, Peripheral arterial disease 2 shared evidence sourcesGWAS catalog (Ovarian serous carcinoma), GWAS catalog (Peripheral arterial disease) Related via 2 shared diseases including Ovarian serous carcinoma, Peripheral arterial disease — evidence mostly GWAS catalog. MCTP1 2 shared diseasesHypertrophic cardiomyopathy, Peripheral arterial disease 2 shared evidence sourcesGWAS catalog (Hypertrophic cardiomyopathy), GWAS catalog (Peripheral arterial disease) Related via 2 shared diseases including Hypertrophic cardiomyopathy, Peripheral arterial disease — evidence mostly GWAS catalog. TRIM5 2 shared diseasesPeripheral arterial disease, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Peripheral arterial disease), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Peripheral arterial disease, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HEATR1	2	["Hypertrophic cardiomyopathy","Upper aerodigestive tract neoplasm"]	0	[]	2	["GWAS catalog (Hypertrophic cardiomyopathy)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
STRN	2	["Hypertrophic cardiomyopathy","Upper aerodigestive tract neoplasm"]	0	[]	2	["GWAS catalog (Hypertrophic cardiomyopathy)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
ATAD5	2	["Ovarian serous carcinoma","Peripheral arterial disease"]	0	[]	2	["GWAS catalog (Ovarian serous carcinoma)","GWAS catalog (Peripheral arterial disease)"]
MCTP1	2	["Hypertrophic cardiomyopathy","Peripheral arterial disease"]	0	[]	2	["GWAS catalog (Hypertrophic cardiomyopathy)","GWAS catalog (Peripheral arterial disease)"]
TRIM5	2	["Peripheral arterial disease","Upper aerodigestive tract neoplasm"]	0	[]	2	["GWAS catalog (Peripheral arterial disease)","GWAS catalog (Upper aerodigestive tract neoplasm)"]

Diseases Linked via Similar Genes

Breast cancer Linked via 2 of 5 related genesATAD5, MCTP1 Head and neck neoplasms Linked via 2 of 5 related genesMCTP1, TRIM5 Basal cell carcinoma Linked via 1 of 5 related genesSTRN Heart failure Linked via 1 of 5 related genesSTRN Keratinocyte carcinoma Linked via 1 of 5 related genesSTRN

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	2	["ATAD5","MCTP1"]
Head and neck neoplasms	2	["MCTP1","TRIM5"]
Basal cell carcinoma	1	["STRN"]
Heart failure	1	["STRN"]
Keratinocyte carcinoma	1	["STRN"]