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

Gene ID: 54602, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 31.7), skin (RPKM 21.9) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (79481155..79556077)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (78709081..78783702)
105.20220307 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. 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
  3. 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
  4. 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
  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 (39) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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