Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
255743
Gene name Gene Name - the full gene name approved by the HGNC.
Nephronectin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPNT
Synonyms (NCBI Gene) Gene synonyms aliases
EGFL6L, POEM
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005422 hsa-miR-378a-3p GFP reporter assay, Luciferase reporter assay, Western blot 19844573
MIRT005422 hsa-miR-378a-3p GFP reporter assay, Luciferase reporter assay, Western blot 19844573
MIRT005422 hsa-miR-378a-3p GFP reporter assay, Luciferase reporter assay, Western blot 19844573
MIRT026404 hsa-miR-192-5p Microarray 19074876
MIRT039335 hsa-miR-425-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001657 Process Ureteric bud development ISS 15754038
GO:0001658 Process Branching involved in ureteric bud morphogenesis ISS 15754038
GO:0005178 Function Integrin binding ISS 15754038
GO:0005178 Function Integrin binding NAS 11470831
GO:0005201 Function Extracellular matrix structural constituent RCA 25037231, 28675934
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610306 27405 ENSG00000168743
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Hypertension Hypertension GWAS
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cakut Associate 36292572
COVID 19 Associate 37794074
Hereditary renal agenesis Associate 36292572
Hyperaldosteronism Associate 28416583
Kidney Diseases Cystic Associate 36292572
Lung Diseases Associate 20010835, 26635082
Lung Neoplasms Associate 36870548
Nephrotic Syndrome Associate 29891875
Osteogenesis imperfecta type 1A Associate 35299232
Pulmonary Disease Chronic Obstructive Associate 21659657, 26423011, 36128198, 37794074