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

Gene ID: 79849, updated on 4-Dec-2022

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
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Genomic context

See NHERF4 in Genome Data Viewer
Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119185475..119190213)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119205845..119210583)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119056184..119060922)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily G member 4 Neighboring gene NLR family member X1 Neighboring gene Sharpr-MPRA regulatory region 11099 Neighboring gene small nucleolar RNA, C/D box 150 Neighboring gene coiled-coil domain containing 153

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

Homology

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 C-terminus binding IPI
Inferred from Physical Interaction
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
PubMed 
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
PubMed 
located_in brush border IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
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)

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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_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/Swiss-Prot
    Q86UT5
    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/Swiss-Prot
    Q86UT5
    UniProtKB/TrEMBL
    B0YJ61
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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, Q9H5Z3
    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, Q9H5Z3
    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

    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

    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
    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)