Gene Gene information from NCBI Gene database.
Entrez ID 91862
Gene name MARVEL domain containing 3
Gene symbol MARVELD3
Synonyms (NCBI Gene)
MARVD3MRVLDC3
Chromosome 16
Chromosome location 16q22.2
miRNA miRNA information provided by mirtarbase database.
213
miRTarBase ID miRNA Experiments Reference
MIRT1132905 hsa-miR-106a CLIP-seq
MIRT1132906 hsa-miR-106b CLIP-seq
MIRT1132907 hsa-miR-1178 CLIP-seq
MIRT1132908 hsa-miR-122 CLIP-seq
MIRT1132909 hsa-miR-125a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20164257
GO:0005923 Component Bicellular tight junction IDA 20028514, 20164257
GO:0005923 Component Bicellular tight junction IEA
GO:0006970 Process Response to osmotic stress IMP 24567356
GO:0010633 Process Negative regulation of epithelial cell migration IMP 24567356
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614094 30525 ENSG00000140832
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96A59
Protein name MARVEL domain-containing protein 3
Protein function As a component of tight junctions, plays a role in paracellular ion conductivity.
Family and domains
Sequence
MEDPSGAREPRARPRERDPGRRPHPDQGRTHDRPRDRPGDPRRKRSSDGNRRRDGDRDPE
RDQERDGNRDRNRDRERERERERDPDRGPRRDTHRDAGPRAGEHGVWEKPRQSRTRDGAR
GLTWDAAAPPGPAPWEAPEPPQPQRKGDPGRRRPESEPPSERYLPSTPRPGREEVEYYQS
EAEGLLECHKCKYLCTGRACCQMLEVLLNLLILACSSVSYSSTGGYTGITSLGGIYYYQF
GGAYSGFDGADGEKAQQLDVQFYQLKLPMVTVAMACSGALTALCCLFVAMGVLRVPWHCP
LLLVTEGLLDMLIAGGYIPALYFYFHYLSAAYGSPVCKERQALYQSKGYSGFGCSFHGAD
IGAGIFAALGIVVFALGAVLAIKGYRKVRKLKEKPAEMFEF
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Tight junction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT 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 associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24398667
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34338154 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 24398667
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 24398667 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 24398667
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 21763689
★☆☆☆☆
Found in Text Mining only
Pancreatic carcinoma Pancreatic carcinoma BEFREE 21763689
★☆☆☆☆
Found in Text Mining only