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

    Gene ID: 54602, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001161407.2NP_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_001394685.1NP_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:102335
      NDFIP2; NEDD4 family-interacting protein 2
    3. NM_019080.3NP_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)