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    Nherf2 NHERF family PDZ scaffold protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 65962, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nherf2provided by MGI
    Official Full Name
    NHERF family PDZ scaffold protein 2provided by MGI
    Primary source
    MGI:MGI:1890662
    See related
    Ensembl:ENSMUSG00000002504 AllianceGenome:MGI:1890662
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sip1; Octs2; Sip-1; Tka-1; E3karp; Sryip1; NHERF-2; Slc9a3r2; 0610011L07Rik; 1200011K07Rik; 2010007A20Rik
    Summary
    Enables phosphatase binding activity. Acts upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction and sensory perception of sound. Located in several cellular components, including apical plasma membrane; nucleus; and stereocilium. Is expressed in atrioventricular valve; cochlea epithelium; organ of Corti; and semilunar valve. Orthologous to human NHERF2 (NHERF family PDZ scaffold protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 219.2), ovary adult (RPKM 58.5) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Nherf2 in Genome Data Viewer
    Location:
    17 A3.3; 17 12.43 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (24858255..24869279, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (24639281..24650305, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene polycystin 1, transient receptor potential channel interacting Neighboring gene STARR-seq mESC enhancer starr_42089 Neighboring gene TSC complex subunit 2 Neighboring gene STARR-positive B cell enhancer ABC_E7498 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:24769632-24769741 Neighboring gene nth (endonuclease III)-like 1 (E.coli) Neighboring gene neuropeptide W Neighboring gene zinc finger protein 598

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (2)  1 citation
    • Targeted (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables low-density lipoprotein particle receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-membrane adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stereocilium bundle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Na(+)/H(+) exchange regulatory cofactor NHE-RF2
    Names
    NHE3 kinase A regulatory protein E3KARP
    SRY-interacting protein 1
    sodium-hydrogen exchanger regulatory factor 2
    solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
    tyrosine kinase activator protein 1

    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_001357796.1NP_001344725.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform C

      Status: VALIDATED

      Source sequence(s)
      AK075813, BC070458
      Consensus CDS
      CCDS89012.1
      UniProtKB/Swiss-Prot
      Q3TDR3, Q6P074, Q8BGL9, Q8BW05, Q9DCR6, Q9JHL1
      UniProtKB/TrEMBL
      Q6NS54
      Related
      ENSMUSP00000157103.2, ENSMUST00000234557.2
      Conserved Domains (3) summary
      smart00228
      Location:148230
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:988
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam09007
      Location:232316
      EBP50_C; EBP50, C-terminal
    2. NM_023055.2NP_075542.2  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform A

      See identical proteins and their annotated locations for NP_075542.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (A) encodes the longer isoform (A).
      Source sequence(s)
      AK084801, CJ194744
      Consensus CDS
      CCDS28488.1
      UniProtKB/Swiss-Prot
      Q3TDR3, Q6P074, Q8BGL9, Q8BW05, Q9DCR6, Q9JHL1
      UniProtKB/TrEMBL
      A0A0R4IZX2
      Related
      ENSMUSP00000002572.5, ENSMUST00000002572.6
      Conserved Domains (3) summary
      smart00228
      Location:148230
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:988
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam09007
      Location:232337
      EBP50_C; EBP50, C-terminal
    3. NM_023449.3NP_075938.2  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform B

      See identical proteins and their annotated locations for NP_075938.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (B) differs in the 5' UTR and 5' coding region, compared to variant A. The resulting isoform (B) has a shorter and distinct N-terminus, compared to isoform A.
      Source sequence(s)
      AK002557, AK039491, CJ194744
      Consensus CDS
      CCDS28489.1
      UniProtKB/TrEMBL
      A0A0R4J006, A0A3Q4EBU8
      Related
      ENSMUSP00000019684.6, ENSMUST00000019684.13
      Conserved Domains (2) summary
      cd00992
      Location:38117
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam09007
      Location:121226
      EBP50_C; EBP50, C-terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      24858255..24869279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249980.2XP_030105840.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform X1

      UniProtKB/TrEMBL
      A0A3Q4EHM9
      Related
      ENSMUSP00000157065.2, ENSMUST00000234505.2
      Conserved Domains (2) summary
      cd00992
      Location:38117
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam09007
      Location:121205
      EBP50_C; EBP50, C-terminal