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    NDFIP2 Nedd4 family interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 54602, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NDFIP2provided by HGNC
    Official Full Name
    Nedd4 family interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:18537
    See related
    Ensembl:ENSG00000102471 MIM:610041; AllianceGenome:HGNC:18537
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    N4WBP5A
    Summary
    Enables WW domain binding activity. Involved in negative regulation of gene expression; negative regulation of transport; and positive regulation of protein ubiquitination. Located in several cellular components, including Golgi apparatus; mitochondrion; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 31.7), skin (RPKM 21.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDFIP2 in Genome Data Viewer
    Location:
    13q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (79481155..79556077)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (78709081..78783702)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (80055290..80130212)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7857 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:79980055-79981046 Neighboring gene RNA, 5S ribosomal pseudogene 33 Neighboring gene uncharacterized LOC105370274 Neighboring gene RBM26 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5427 Neighboring gene NDFIP2 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:80134686-80135885 Neighboring gene long intergenic non-protein coding RNA 1068 Neighboring gene VISTA enhancer hs1471 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:80310911-80311411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:80365632-80366488 Neighboring gene uncharacterized LOC124903226

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins. Mund T, et al. EMBO Rep, 2009 May. PMID 19343052, Free PMC Article
    2. Nedd4-interacting protein 2, a short half-life membrane protein degraded in lysosomes, negatively controls down-regulation of connexin43. Ohzono C, et al. Biol Pharm Bull, 2010. PMID 20522958
    3. Cloning and characterization of N4WBP5A, an inducible, cyclosporine-sensitive, Nedd4-binding protein in human T lymphocytes. Cristillo AD, et al. J Biol Chem, 2003 Sep 5. PMID 12796489
    4. Regulation of the human ether-a-go-go-related gene (hERG) potassium channel by Nedd4 family interacting proteins (Ndfips). Kang Y, et al. Biochem J, 2015 Nov 15. PMID 26363003
    5. NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology. Kaimori JY, et al. Sci Rep, 2017 Aug 10. PMID 28798345, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that membrane protein Ndfip1 recruits E3 ubiquitin (Ub) ligase Nedd4-2 to the Golgi to target ether-a-go-go-related gene (hERG) channel for degradation while membrane protein Ndfip2 also mediates Nedd4-2 interaction with hERG in the Golgi.
      Title: Regulation of the human ether-a-go-go-related gene (hERG) potassium channel by Nedd4 family interacting proteins (Ndfips).
    2. PTEN/Akt and MAP kinase signaling pathways are regulated by the ubiquitin ligase activators Ndfip1 and Ndfip2
      Title: Regulation of PTEN/Akt and MAP kinase signaling pathways by the ubiquitin ligase activators Ndfip1 and Ndfip2.
    3. Data show that the small PY-containing membrane proteins, NDFIP1 and NDFIP2 (NEDD4 family-interacting proteins), activate the catalytic activity of ITCH and of several other HECT ligases by binding to them.
      Title: Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins.
    4. role in regulating epithelial sodium channel
      Title: Regulation of the epithelial sodium channel by N4WBP5A, a novel Nedd4/Nedd4-2-interacting protein.
    5. N4WBP5A may play a regulatory role in modulating Nedd4 activity at the level of the Golgi apparatus in T lymphocytes
      Title: Cloning and characterization of N4WBP5A, an inducible, cyclosporine-sensitive, Nedd4-binding protein in human T lymphocytes.
    6. N4WBP5A acts as an adaptor to recruit Nedd4 family ubiquitin-protein ligases to the protein trafficking machinery
      Title: N4WBP5A (Ndfip2), a Nedd4-interacting protein, localizes to multivesicular bodies and the Golgi, and has a potential role in protein trafficking.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Genome-wide association study of pancreatic cancer in Japanese population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25842, KIAA1165

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables WW domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in metal ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in positive regulation of protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vacuolar transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in multivesicular body membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NEDD4 family-interacting protein 2
    Names
    MAPK-activating protein PM04 PM05 PM06 PM07
    NEDD4 WW domain-binding protein 5A
    NF-kappa-B-activating protein 413
    putative MAPK-activating protein PM04/PM05/PM06/PM07
    putative NF-kappa-B-activating protein 413

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001161407.2 → NP_001154879.1  NEDD4 family-interacting protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter isoform (2) compared to isoform 1.
      Source sequence(s)
      AL136442, AL355603
      UniProtKB/TrEMBL
      B4DGY6
      Related
      ENST00000703157.1

    2. NM_001394685.1 → NP_001381614.1  NEDD4 family-interacting protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL136442, AL355603
      Related
      ENST00000703156.1
      Conserved Domains (1) summary
      cd22306
      Location:102 → 335
      NDFIP2; NEDD4 family-interacting protein 2

    3. NM_019080.3 → NP_061953.2  NEDD4 family-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_061953.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL136442, AL355603
      Consensus CDS
      CCDS31998.1
      UniProtKB/Swiss-Prot
      Q7Z2H3, Q7Z428, Q8TAR3, Q9NV92, Q9ULQ5
      Related
      ENSP00000218652.7, ENST00000218652.12

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      79481155..79556077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      78709081..78783702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NV92.2 GenPept UniProtKB/Swiss-Prot:Q9NV92

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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