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    NHERF4 NHERF family PDZ scaffold protein 4 [ Homo sapiens (human) ]

    Gene ID: 79849, updated on 3-Dec-2024

    Summary

    Official Symbol
    NHERF4provided by HGNC
    Official Full Name
    NHERF family PDZ scaffold protein 4provided by HGNC
    Primary source
    HGNC:HGNC:19891
    See related
    Ensembl:ENSG00000172367 MIM:607146; AllianceGenome:HGNC:19891
    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
    IKEPP; PDZD3; PDZK2
    Summary
    Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in duodenum (RPKM 18.4), small intestine (RPKM 16.9) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NHERF4 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119185475..119190213)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119205845..119210583)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119056184..119060922)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119027357-119027857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119029281-119029780 Neighboring gene ATP binding cassette subfamily G member 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119039524-119040229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119040230-119040934 Neighboring gene NLR family member X1 Neighboring gene Sharpr-MPRA regulatory region 11099 Neighboring gene small nucleolar RNA, C/D box 150 Neighboring gene dynein regulatory complex subunit 12 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3976 Neighboring gene fragile site, folic acid type, rare, fra(11)(q23.3) Neighboring gene Cbl proto-oncogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5628 Neighboring gene RNA, U6 small nuclear 262, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22756

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanylate cyclase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ion channel inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 ubiquitin-specific protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Na(+)/H(+) exchange regulatory cofactor NHE-RF4
    Names
    NHERF-4
    Na(+)/H(+) exchange regulatory cofactor 4
    PDZ domain containing 2
    PDZ domain containing 3
    PDZ domain-containing protein 2
    PDZ domain-containing protein 3
    intestinal and kidney enriched PDZ protein
    na/Pi cotransporter C-terminal-associated protein 2
    naPi-Cap2
    natrium-phosphate cotransporter IIa C-terminal-associated protein 2
    sodium-hydrogen exchanger regulatory factor 4

    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_001168468.2NP_001161940.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 1

      See identical proteins and their annotated locations for NP_001161940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB094096, AY047359, DA381610
      Consensus CDS
      CCDS53719.1
      UniProtKB/TrEMBL
      B4DPH0
      Related
      ENSP00000347742.5, ENST00000355547.10
      Conserved Domains (1) summary
      cd00992
      Location:47127
      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) ...
    2. NM_024791.4NP_079067.3  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 2

      See identical proteins and their annotated locations for NP_079067.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB094096, AP002956, BC029042, DA381610
      Consensus CDS
      CCDS8417.1
      UniProtKB/TrEMBL
      B0YJ61, B4DPH0
      Related
      ENSP00000327107.4, ENST00000322712.4
      Conserved Domains (1) summary
      cd00992
      Location:47127
      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) ...

    RNA

    1. NR_033122.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB094096, AK298333, AP002956

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      119185475..119190213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543002.3XP_011541304.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X1

      See identical proteins and their annotated locations for XP_011541304.1

      UniProtKB/Swiss-Prot
      Q86UT5, Q8N6R4, Q8NAW7, Q8NEX7, Q9H5Z3
      UniProtKB/TrEMBL
      B4DPH0
      Related
      ENSP00000431164.1, ENST00000531114.5
      Conserved Domains (2) summary
      smart00228
      Location:326411
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:113193
      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) ...
    2. XM_011543001.3XP_011541303.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X1

      See identical proteins and their annotated locations for XP_011541303.1

      UniProtKB/Swiss-Prot
      Q86UT5, Q8N6R4, Q8NAW7, Q8NEX7, Q9H5Z3
      UniProtKB/TrEMBL
      B4DPH0
      Conserved Domains (2) summary
      smart00228
      Location:326411
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:113193
      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) ...
    3. XM_011543005.3XP_011541307.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X3

      UniProtKB/TrEMBL
      B4DPH0
      Related
      ENST00000527028.5
      Conserved Domains (1) summary
      cd00992
      Location:48128
      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) ...
    4. XM_017018334.2XP_016873823.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X2

      UniProtKB/TrEMBL
      B4DPH0
      Conserved Domains (2) summary
      smart00228
      Location:312397
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:113193
      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) ...
    5. XM_047427615.1XP_047283571.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X4

      UniProtKB/TrEMBL
      B4DPH0, E9PPZ1
      Related
      ENSP00000434559.1, ENST00000525131.5
    6. XM_017018335.2XP_016873824.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X5

      Conserved Domains (1) summary
      cd00992
      Location:113193
      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) ...
    7. XM_017018336.2XP_016873825.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X6

      Conserved Domains (1) summary
      cd00992
      Location:113193
      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) ...
    8. XM_017018337.2XP_016873826.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      119205845..119210583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369993.1XP_054225968.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X1

      UniProtKB/Swiss-Prot
      Q86UT5, Q8N6R4, Q8NAW7, Q8NEX7, Q9H5Z3
      UniProtKB/TrEMBL
      B4DPH0
    2. XM_054369995.1XP_054225970.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X3

      UniProtKB/TrEMBL
      B4DPH0
    3. XM_054369994.1XP_054225969.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X2

      UniProtKB/TrEMBL
      B4DPH0
    4. XM_054369996.1XP_054225971.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X4

      UniProtKB/TrEMBL
      B4DPH0, E9PPZ1
    5. XM_054369997.1XP_054225972.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X5

    6. XM_054369998.1XP_054225973.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X6

    7. XM_054369999.1XP_054225974.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X7