Gene Gene information from NCBI Gene database.
Entrez ID 255743
Gene name Nephronectin
Gene symbol NPNT
Synonyms (NCBI Gene)
EGFL6LPOEM
Chromosome 4
Chromosome location 4q24
miRNA miRNA information provided by mirtarbase database.
316
miRTarBase ID miRNA Experiments Reference
MIRT005422 hsa-miR-378a-3p GFP reporter assayLuciferase reporter assayWestern blot 19844573
MIRT005422 hsa-miR-378a-3p GFP reporter assayLuciferase reporter assayWestern blot 19844573
MIRT005422 hsa-miR-378a-3p GFP reporter assayLuciferase reporter assayWestern blot 19844573
MIRT026404 hsa-miR-192-5p Microarray 19074876
MIRT039335 hsa-miR-425-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0001657 Process Ureteric bud development IEA
GO:0001657 Process Ureteric bud development ISS 15754038
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis ISS 15754038
GO:0005178 Function Integrin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610306 27405 ENSG00000168743
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXI9
Protein name Nephronectin (Preosteoblast EGF-like repeat protein with MAM domain) (Protein EGFL6-like)
Protein function Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA 89 133 Calcium-binding EGF domain Domain
PF07645 EGF_CA 169 212 Calcium-binding EGF domain Domain
PF07645 EGF_CA 214 253 Calcium-binding EGF domain Domain
PF00629 MAM 422 562 MAM domain, meprin/A5/mu Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney and lung and to a lower extent in brain, pregnant uterus, placenta, thyroid gland and blood vessels. {ECO:0000269|PubMed:15754038}.
Sequence
MDFLLALVLVSSLYLQAAAEFDGRWPRQIVSSIGLCRYGGRIDCCWGWARQSWGQCQPVC
QPRCKHGECIGPNKCKCHPGYAGKTCNQDLNECGLKPRPCKHRCMNTYGSYKCYCLNGYM
LMPDGSCSSALTC
SMANCQYGCDVVKGQIRCQCPSPGLQLAPDGRTCVDVDECATGRASC
PRFRQCVNTFGSYICKCHKGFDLMYIGGKYQC
HDIDECSLGQYQCSSFARCYNIRGSYKC
KCKEGYQGDGLTC
VYIPKVMIEPSGPIHVPKGNGTILKGDTGNNNWIPDVGSTWWPPKTP
YIPPIITNRPTSKPTTRPTPKPTPIPTPPPPPPLPTELRTPLPPTTPERPTTGLTTIAPA
ASTPPGGITVDNRVQTDPQKPRGDVFIPRQPSNDLFEIFEIERGVSADDEAKDDPGVLVH
SCNFDHGLCGWIREKDNDLHWEPIRDPAGGQYLTVSAAKAPGGKAARLVLPLGRLMHSGD
LCLSFRHKVTGLHSGTLQVFVRKHGAHGAALWGRNGGHGWRQTQITLRGADIKSVVFKGE
KRRGHTGEIGLDDVSLKKGHCS
EER
Sequence length 565
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  ECM-receptor interaction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE 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
Arthritis Arthritis BEFREE 31705832
★☆☆☆☆
Found in Text Mining only
Atrioventricular Septal Defect Atrioventricular septal defect BEFREE 28513838
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28975640
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31705832
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18271919, 28842827, 29539586, 30524949, 30591862
★☆☆☆☆
Found in Text Mining only
Cakut Congenital anomalies of the kidney and urinary tract Pubtator 36292572 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 21659657
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Conn Adenoma Conn Adenoma BEFREE 28416583
★☆☆☆☆
Found in Text Mining only