Gene Gene information from NCBI Gene database.
Entrez ID 54602
Gene name Nedd4 family interacting protein 2
Gene symbol NDFIP2
Synonyms (NCBI Gene)
N4WBP5A
Chromosome 13
Chromosome location 13q31.1
miRNA miRNA information provided by mirtarbase database.
224
miRTarBase ID miRNA Experiments Reference
MIRT025956 hsa-miR-7-5p Microarray 19073608
MIRT026926 hsa-miR-192-5p Microarray 19074876
MIRT049872 hsa-miR-31-5p CLASH 23622248
MIRT043881 hsa-miR-378a-3p CLASH 23622248
MIRT036778 hsa-miR-760 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 18776082, 26363003, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 12796489
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 12796489
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610041 18537 ENSG00000102471
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NV92
Protein name NEDD4 family-interacting protein 2 (NEDD4 WW domain-binding protein 5A) (Putative MAPK-activating protein PM04/PM05/PM06/PM07) (Putative NF-kappa-B-activating protein 413)
Protein function Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, heart, skeletal muscle, kidney, liver and placenta. {ECO:0000269|PubMed:12796489}.
Sequence
MARRRSQRVCASGPSMLNSARGAPELLRGTATNAEVSAAAAGATGSEELPPGDRGCRNGG
GRGPAATTSSTGVAVGAEHGEDSLSRKPDPEPGRMDHHQPGTGRYQVLLNEEDNSESSAI
EQPPTSNPAPQIVQAASSAPALETDSSPPPYSSITVEVPTTSDTEVYGEFYPVPPPYSVA
TSLPTYDEAEKAKAAAMAAAAAETSQRIQEEECPPRDDFSDADQLRVGNDGIFMLAFFMA
FIFNWLGFCLSFCITNTIAGRYGAICGFGLSLIKWILIVRFSDYFTGYFNGQYWLWWIFL
VLGLLLFFRGFVNYLKVRNMSESMAAAHRTRYFFLL
Sequence length 336
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
MAJOR DEPRESSIVE DISORDER 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
Crohn Disease Crohn disease Pubtator 26937622 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 20090362
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia Pubtator 33159203 Associate
★☆☆☆☆
Found in Text Mining only