Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23327
Gene name Gene Name - the full gene name approved by the HGNC.
NEDD4 like E3 ubiquitin protein ligase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NEDD4L
Synonyms (NCBI Gene) Gene synonyms aliases
NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PVNH7
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs4149601 G>A Drug-response Coding sequence variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030590 hsa-miR-24-3p Microarray 19748357
MIRT038151 hsa-miR-423-5p CLASH 23622248
MIRT036071 hsa-miR-1296-5p CLASH 23622248
MIRT545531 hsa-miR-5011-5p PAR-CLIP 21572407
MIRT545530 hsa-miR-656-3p PAR-CLIP 21572407
Transcription factors
Transcription factor Regulation Reference
SUPT3H Activation 8649367
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0000209 Process Protein polyubiquitination IBA 21873635
GO:0000209 Process Protein polyubiquitination TAS
GO:0003254 Process Regulation of membrane depolarization IDA 15217910
GO:0004842 Function Ubiquitin-protein transferase activity NAS 11244092
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606384 7728 ENSG00000049759
Protein
UniProt ID Q96PU5
Protein name E3 ubiquitin-protein ligase NEDD4-like (EC 2.3.2.26) (EC 2.3.2.36) (HECT-type E3 ubiquitin transferase NED4L) (NEDD4.2) (Nedd4-2)
Protein function E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins and is thereby implicated in the regulation of various signaling pathways including autophagy, innate immunity or DNA repair (Pub
PDB 2LAJ , 2LB2 , 2LTY , 2MPT , 2NSQ , 2ONI , 3JVZ , 3JW0 , 5HPK , 6ZBT , 6ZC9 , 7LP1 , 7LP2 , 7LP3 , 7LP4 , 7LP5 , 7NMZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 20 127 C2 domain Domain
PF00397 WW 195 224 WW domain Domain
PF00397 WW 387 416 WW domain Domain
PF00397 WW 499 528 WW domain Domain
PF00397 WW 550 579 WW domain Domain
PF00632 HECT 669 974 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in prostate, pancreas, and kidney (PubMed:14615060, PubMed:15496141, PubMed:19664597). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:14615060, ECO:0000269|PubMed:15496141, E
Sequence
MATGLGEPVYGLSEDEGESRILRVKVVSGIDLAKKDIFGASDPYVKLSLYVADENRELAL
VQTKTIKKTLNPKWNEEFYFRVNPSNHRLLFEVFDENRLTRDDFLGQVDVPLSHLPTEDP
TMERPYT
FKDFLLRPRSHKSRVKGFLRLKMAYMPKNGGQDEENSDQRDDMEHGWEVVDSN
DSASQHQEELPPPPLPPGWEEKVDNLGRTYYVNHNNRTTQWHRPSLMDVSSESDNNIRQI
NQEAAHRRFRSRRHISEDLEPEPSEGGDVPEPWETISEEVNIAGDSLGLALPPPPASPGS
RTSPQELSEELSRRLQITPDSNGEQFSSLIQREPSSRLRSCSVTDAVAEQGHLPPPSAPA
GRARSSTVTGGEEPTPSVAYVHTTPGLPSGWEERKDAKGRTYYVNHNNRTTTWTRPIMQL
AEDGASGSATNSNNHLIEPQIRRPRSLSSPTVTLSAPLEGAKDSPVRRAVKDTLSNPQSP
QPSPYNSPKPQHKVTQSFLPPGWEMRIAPNGRPFFIDHNTKTTTWEDPRLKFPVHMRSKT
SLNPNDLGPLPPGWEERIHLDGRTFYIDHNSKITQWEDPRLQNPAITGPAVPYSREFKQK
YDYFRKKLKKPADIPNRFEMKLHRNNIFEESYRRIMSVKRPDVLKARLWIEFESEKGLDY
GGVAREWFFLLSKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFTFIGRVAGLA
VFHGKLLDGFFIRPFYKMMLGKQITLNDMESVDSEYYNSLKWILENDPTELDLMFCIDEE
NFGQTYQVDLKPNGSEIMVTNENKREYIDLVIQWRFVNRVQKQMNAFLEGFTELLPIDLI
KIFDENELELLMCGLGDVDVNDWRQHSIYKNGYCPNHPVIQWFWKAVLLMDAEKRIRLLQ
FVTGTSRVPMNGFAELYGSNGPQLFTIEQWGSPEKLPRAHTCFNRLDLPPYETFEDLREK
LLMAVENAQGFEGV
D
Sequence length 975
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis
Endocytosis
Tight junction
Aldosterone-regulated sodium reabsorption
  Budding and maturation of HIV virion
Downregulation of SMAD2/3:SMAD4 transcriptional activity
Stimuli-sensing channels
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Epileptic encephalopathy Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
23934111
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 11022011 ClinVar
Endometriosis Endometriosis 20864642 ClinVar
Migraine with aura Migraine with Aura 23793025 ClinVar
Periventricular Nodular Heterotopia periventricular nodular heterotopia, periventricular nodular heterotopia 7 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33628780, 35090513, 37240137
Alzheimer Disease Associate 22361880
Appendicitis Associate 34319380
Arrhythmias Cardiac Associate 33414395
Arsenic Poisoning Associate 36436256
Asthma Associate 25116239
Attention Deficit Disorder with Hyperactivity Associate 19156173
Breast Neoplasms Associate 29662198, 37005481
Carcinogenesis Associate 29998764, 39596003
Carcinoma Non Small Cell Lung Associate 31618441