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NPNT (nephronectin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
255743
Gene nameGene Name - the full gene name approved by the HGNC.
Nephronectin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NPNT
SynonymsGene synonyms aliases
EGFL6L, POEM
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MDFLLALVLVSSLYLQAAAEFDGRWPRQIVSSIGLCRYGGRIDCCWGWARQSWGQCQPVC
QPRCKHGECIGPNKCKCHPGYAGKTCNQDLNECGLKPRPCKHRCMNTYGSYKCYCLNGYM
LMPDGSCSSALTC
SMANCQYGCDVVKGQIRCQCPSPGLQLAPDGRTCVDVDECATGRASC
PRFRQCVNTFGSYICKCHKGFDLMYIGGKYQC
HDIDECSLGQYQCSSFARCYNIRGSYKC
KCKEGYQGDGLTC
VYIPKVMIEPSGPIHVPKGNGTILKGDTGNNNWIPDVGSTWWPPKTP
YIPPIITNRPTSKPTTRPTPKPTPIPTPPPPPPLPTELRTPLPPTTPERPTTGLTTIAPA
ASTPPGGITVDNRVQTDPQKPRGDVFIPRQPSNDLFEIFEIERGVSADDEAKDDPGVLVH
SCNFDHGLCGWIREKDNDLHWEPIRDPAGGQYLTVSAAKAPGGKAARLVLPLGRLMHSGD
LCLSFRHKVTGLHSGTLQVFVRKHGAHGAALWGRNGGHGWRQTQITLRGADIKSVVFKGE
KRRGHTGEIGLDDVSLKKGHCS
EER
Sequence length 565
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  ECM-receptor interaction  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30804561
Unknown
Disease name Disease term dbSNP ID References
Cardiovascular diseases Cardiovascular Diseases 30595370
Respiratory tract diseases Respiratory Tract Diseases 30595370

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