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Aliases for NEDD4L Gene

Aliases for NEDD4L Gene

  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase 2 3 5
  • NEDD4-2 3 4
  • NEDD4.2 3 4
  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like 2
  • E3 Ubiquitin-Protein Ligase NEDD4-Like 3
  • Ubiquitin-Protein Ligase Rsp5 3
  • EC 6.3.2.- 4
  • HNEDD4-2 3
  • KIAA0439 4
  • EC 6.3.2 61
  • NEDL3 4
  • RSP5 3

External Ids for NEDD4L Gene

Previous GeneCards Identifiers for NEDD4L Gene

  • GC18P055746
  • GC18P055496
  • GC18P053860
  • GC18P053862
  • GC18P052421
  • GC18P055711

Summaries for NEDD4L Gene

Entrez Gene Summary for NEDD4L 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. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for NEDD4L Gene

NEDD4L (Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with NEDD4L include Photosensitive Epilepsy and Liddle Syndrome. Among its related pathways are Signaling by GPCR and Ion channel transport. GO annotations related to this gene include ligase activity and ion channel binding. An important paralog of this gene is NEDD4.

UniProtKB/Swiss-Prot for NEDD4L Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, Nav1.2, Nav1.3, Nav1.5, Nav1.7, Nav1.8, Kv1.3, EAAT1 or CLC5. Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Gene Wiki entry for NEDD4L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEDD4L Gene

Genomics for NEDD4L Gene

Regulatory Elements for NEDD4L Gene

Enhancers for NEDD4L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around NEDD4L on UCSC Golden Path with GeneCards custom track

Promoters for NEDD4L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NEDD4L on UCSC Golden Path with GeneCards custom track

Genomic Location for NEDD4L Gene

Chromosome:
18
Start:
58,044,233 bp from pter
End:
58,401,541 bp from pter
Size:
357,309 bases
Orientation:
Plus strand

Genomic View for NEDD4L Gene

Genes around NEDD4L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEDD4L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEDD4L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEDD4L Gene

Proteins for NEDD4L Gene

  • Protein details for NEDD4L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PU5-NED4L_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase NEDD4-like
    Protein Accession:
    Q96PU5
    Secondary Accessions:
    • O43165
    • Q3LSM7
    • Q7Z5F1
    • Q7Z5F2
    • Q7Z5N3
    • Q8N5A7
    • Q8WUU9
    • Q9BW58
    • Q9H2W4
    • Q9NT88

    Protein attributes for NEDD4L Gene

    Size:
    975 amino acids
    Molecular mass:
    111932 Da
    Quaternary structure:
    • Interacts with UBE2E3 (By similarity). Interacts with NDFIP1 and NDFIP2 (By similarity); this interaction activates the E3 ubiquitin-protein ligase. Interacts via its WW domains with SCNN1A, SCNN1B, SCNN1G, SCN1A, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCN10A and CLCN5. Interacts with SMAD2, SMAD3, SMAD6 and SMAD7. The phosphorylated form interacts with 14-3-3 proteins. Interacts with Epstein-Barr virus LMP2A. Interacts with TNK2. Interacts with WNK1. Interacts with SGK1. Interacts (via C2 domain) with NPC2. Interacts with ARRDC4 (PubMed:23236378). Interacts with KCNQ1; promotes internalization of KCNQ1 (PubMed:22024150).
    SequenceCaution:
    • Sequence=BAA23711.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA23711.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NEDD4L Gene

    Alternative splice isoforms for NEDD4L Gene

neXtProt entry for NEDD4L Gene

Post-translational modifications for NEDD4L Gene

  • Auto-ubiquitinated.
  • Phosphorylated by SGK1 or PKA; which impairs interaction with SCNN. Interaction with YWHAH inhibits dephosphorylation.
  • Ubiquitination at Lys 129, Lys 471, Lys 521, and Lys 531
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NEDD4L (NEDD4L)

Domains & Families for NEDD4L Gene

Gene Families for NEDD4L Gene

Protein Domains for NEDD4L Gene

Suggested Antigen Peptide Sequences for NEDD4L Gene

Graphical View of Domain Structure for InterPro Entry

Q96PU5

UniProtKB/Swiss-Prot:

NED4L_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 4 WW domains.
genes like me logo Genes that share domains with NEDD4L: view

Function for NEDD4L Gene

Molecular function for NEDD4L Gene

GENATLAS Biochemistry:
neural precursor cell expressed gene 4-like,developmentally down-regulated 4-like
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by NDFIP1- and NDFIP2-binding.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, Nav1.2, Nav1.3, Nav1.5, Nav1.7, Nav1.8, Kv1.3, EAAT1 or CLC5. Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
UniProtKB/Swiss-Prot Induction:
By androgens in prostate, and by albumin in kidney.

Enzyme Numbers (IUBMB) for NEDD4L Gene

Gene Ontology (GO) - Molecular Function for NEDD4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 11244092
GO:0015459 potassium channel regulator activity IDA 17289006
GO:0016874 ligase activity IEA --
GO:0017080 sodium channel regulator activity IDA 11244092
genes like me logo Genes that share ontologies with NEDD4L: view
genes like me logo Genes that share phenotypes with NEDD4L: view

Animal Models for NEDD4L Gene

MGI Knock Outs for NEDD4L:

Animal Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEDD4L Gene

Localization for NEDD4L Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEDD4L Gene

Cytoplasm. Note=May be recruited to exosomes by NDFIP1.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEDD4L Gene COMPARTMENTS Subcellular localization image for NEDD4L gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
endosome 2
lysosome 2
plasma membrane 2
vacuole 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NEDD4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11244092
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NEDD4L: view

Pathways & Interactions for NEDD4L Gene

genes like me logo Genes that share pathways with NEDD4L: view

UniProtKB/Swiss-Prot Q96PU5-NED4L_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for NEDD4L Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NEDD4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0003254 regulation of membrane depolarization IDA 15217910
GO:0006513 protein monoubiquitination IEA --
GO:0006814 sodium ion transport NAS 11244092
genes like me logo Genes that share ontologies with NEDD4L: view

Drugs & Compounds for NEDD4L Gene

(7) Drugs for NEDD4L Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 500
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor 398
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for NEDD4L Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with NEDD4L: view

Transcripts for NEDD4L Gene

Unigene Clusters for NEDD4L Gene

Neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEDD4L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: -
SP8: - - - - - - - - -
SP9: - -
SP10: - - - - - - - - -
SP11:
SP12: - - - - -
SP13:
SP14: - - - - - - - - - - - - - - - - - - - - - - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - -

ExUns: 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40a · 40b ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - - - - - - -
SP11: - - - - - - - -
SP12:
SP13:
SP14: - - - - - - - - - - - - - - - - - - - - - -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 40c · 40d · 40e · 40f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for NEDD4L Gene

GeneLoc Exon Structure for
NEDD4L
ECgene alternative splicing isoforms for
NEDD4L

Expression for NEDD4L Gene

mRNA expression in normal human tissues for NEDD4L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEDD4L Gene

This gene is overexpressed in Fetal Brain (31.6) and Breast (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NEDD4L Gene



Protein tissue co-expression partners for NEDD4L Gene

NURSA nuclear receptor signaling pathways regulating expression of NEDD4L Gene:

NEDD4L

SOURCE GeneReport for Unigene cluster for NEDD4L Gene:

Hs.185677

mRNA Expression by UniProt/SwissProt for NEDD4L Gene:

Q96PU5-NED4L_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in prostate, pancreas and kidney (PubMed:14615060, PubMed:15496141, PubMed:19664597). Expressed in melanocytes (PubMed:23999003).
genes like me logo Genes that share expression patterns with NEDD4L: view

Primer Products

No data available for mRNA differential expression in normal tissues for NEDD4L Gene

Orthologs for NEDD4L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NEDD4L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NEDD4L 34
  • 90.37 (n)
  • 98.06 (a)
NEDD4L 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEDD4L 34
  • 92.12 (n)
  • 97.75 (a)
NEDD4L 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nedd4l 34
  • 89.71 (n)
  • 97.95 (a)
Nedd4l 16
Nedd4l 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NEDD4L 34
  • 99.66 (n)
  • 100 (a)
NEDD4L 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nedd4l 34
  • 89.39 (n)
  • 97.92 (a)
oppossum
(Monodelphis domestica)
Mammalia NEDD4L 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEDD4L 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEDD4L 34
  • 82.15 (n)
  • 93.54 (a)
NEDD4L 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEDD4L 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nedd4l 34
  • 78.46 (n)
  • 89.97 (a)
Str.10684 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.206 34
zebrafish
(Danio rerio)
Actinopterygii Dr.26117 34
nedd4l 34
  • 73.46 (n)
  • 82.9 (a)
nedd4l 35
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nedd4 36
  • 46 (a)
Nedd4 34
  • 64.64 (n)
  • 67.3 (a)
Nedd4 35
  • 46 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000787 34
  • 54.09 (n)
  • 54.09 (a)
worm
(Caenorhabditis elegans)
Secernentea Y92H12A.2 36
  • 47 (a)
Y92H12A.2 34
  • 57.05 (n)
  • 56.46 (a)
Y92H12A.2 35
  • 50 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL055C 34
  • 57.56 (n)
  • 52.86 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13575g 34
  • 55.91 (n)
  • 54.19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSP5 34
  • 55.5 (n)
  • 52.13 (a)
RSP5 35
  • 40 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03947 34
  • 53.42 (n)
  • 49.6 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pub1 34
  • 54 (n)
  • 49.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToMany
Species where no ortholog for NEDD4L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NEDD4L Gene

ENSEMBL:
Gene Tree for NEDD4L (if available)
TreeFam:
Gene Tree for NEDD4L (if available)

Paralogs for NEDD4L Gene

Paralogs for NEDD4L Gene

genes like me logo Genes that share paralogs with NEDD4L: view

Variants for NEDD4L Gene

Sequence variations from dbSNP and Humsavar for NEDD4L Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs767136811 - 58,333,891(+) ACCAC(C/T)GGTAA reference, missense
VAR_023416 -
rs752124 -- 58,174,682(-) TCCAG(C/T)CGCAC intron-variant
rs878396 -- 58,143,826(+) CAATA(A/G)GGTTT intron-variant
rs894798 -- 58,144,300(+) ggaag(A/C)ttcta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NEDD4L Gene

Variant ID Type Subtype PubMed ID
dgv1616n106 CNV deletion 24896259
dgv26e198 CNV loss 23635498
dgv3360n100 CNV gain 25217958
dgv3361n100 CNV loss 25217958
dgv3362n100 CNV gain 25217958
dgv3363n100 CNV loss 25217958
dgv3364n100 CNV gain 25217958
dgv5957n54 CNV loss 21841781
dgv990e212 CNV loss 25503493
dgv991e212 CNV loss 25503493
esv1432973 CNV deletion 17803354
esv1499259 CNV deletion 17803354
esv1752057 CNV insertion 17803354
esv2006464 CNV deletion 18987734
esv2138002 CNV deletion 18987734
esv2426857 CNV deletion 19546169
esv2572802 CNV deletion 19546169
esv2643904 CNV insertion 19546169
esv2657059 CNV deletion 23128226
esv2658465 CNV deletion 23128226
esv2673951 CNV deletion 23128226
esv2677246 CNV deletion 23128226
esv2717155 CNV deletion 23290073
esv2717156 CNV deletion 23290073
esv2717157 CNV deletion 23290073
esv2717158 CNV deletion 23290073
esv2717159 CNV deletion 23290073
esv2758727 CNV loss 17122850
esv2762755 CNV loss 21179565
esv29817 CNV loss 19812545
esv29895 CNV loss 19812545
esv3030 CNV loss 18987735
esv3329420 CNV duplication 20981092
esv3364192 CNV duplication 20981092
esv3383765 CNV duplication 20981092
esv3444961 CNV duplication 20981092
esv3449351 CNV duplication 20981092
esv3555461 CNV deletion 23714750
esv3555462 CNV deletion 23714750
esv3574075 CNV gain 25503493
esv3642640 CNV loss 21293372
esv3642641 CNV loss 21293372
esv3642642 CNV loss 21293372
esv3642643 CNV loss 21293372
esv3642644 CNV gain 21293372
esv3642646 CNV gain 21293372
esv7213 CNV loss 19470904
nsv1059990 CNV gain 25217958
nsv1062175 CNV loss 25217958
nsv1065667 CNV loss 25217958
nsv1071466 CNV deletion 25765185
nsv1118789 CNV deletion 24896259
nsv1118790 CNV deletion 24896259
nsv1131371 CNV deletion 24896259
nsv1151270 CNV deletion 26484159
nsv131445 CNV deletion 16902084
nsv2322 CNV insertion 18451855
nsv2323 CNV insertion 18451855
nsv442442 CNV loss 18776908
nsv510459 OTHER sequence alteration 20534489
nsv514875 CNV loss 21397061
nsv516529 CNV loss 19592680
nsv518049 CNV loss 19592680
nsv523158 CNV gain 19592680
nsv528313 CNV loss 19592680
nsv817794 CNV loss 17921354
nsv954087 CNV deletion 24416366

Variation tolerance for NEDD4L Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEDD4L Gene

Human Gene Mutation Database (HGMD)
NEDD4L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEDD4L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEDD4L Gene

Disorders for NEDD4L Gene

MalaCards: The human disease database

(3) MalaCards diseases for NEDD4L Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
photosensitive epilepsy
  • photogenic epilepsy
liddle syndrome
  • liddle's syndrome
hypertension, essential
  • hypertension, essential 3
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NEDD4L

Genetic Association Database (GAD)
NEDD4L
Human Genome Epidemiology (HuGE) Navigator
NEDD4L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEDD4L
genes like me logo Genes that share disorders with NEDD4L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEDD4L Gene

Publications for NEDD4L Gene

  1. HECT E3 ubiquitin ligase Nedd4-1 ubiquitinates ACK and regulates epidermal growth factor (EGF)-induced degradation of EGF receptor and ACK. (PMID: 20086093) Lin Q. … Yang W. (Mol. Cell. Biol. 2010) 3 4 22 65
  2. Down-regulation of active ACK1 is mediated by association with the E3 ubiquitin ligase Nedd4-2. (PMID: 19144635) Chan W. … Manser E. (J. Biol. Chem. 2009) 3 4 22 65
  3. Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L. (PMID: 19664597) Araki N. … Umemura S. (Biochem. Biophys. Res. Commun. 2009) 3 4 22 65
  4. Nedd4-2 isoforms ubiquitinate individual epithelial sodium channel subunits and reduce surface expression and function of the epithelial sodium channel. (PMID: 18322022) Raikwar N.S. … Thomas C.P. (Am. J. Physiol. Renal Physiol. 2008) 2 3 22 65
  5. Two polymorphisms in NEDD4L gene and essential hypertension in Chinese Hans - a population-based case-control study. (PMID: 18293164) Wen H. … Wang X. (Clin. Exp. Hypertens. 2008) 3 22 46 65

Products for NEDD4L Gene

Sources for NEDD4L Gene

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