Format

Send to:

Choose Destination
    • Showing Current items.

    SLC9A3R2 SLC9A3 regulator 2 [ Homo sapiens (human) ]

    Gene ID: 9351, updated on 5-Sep-2021

    Summary

    Official Symbol
    SLC9A3R2provided by HGNC
    Official Full Name
    SLC9A3 regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:11076
    See related
    Ensembl:ENSG00000065054 MIM:606553
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIP1; OCTS2; SIP-1; TKA-1; E3KARP; NHERF2; NHE3RF2; NHERF-2
    Summary
    This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Broad expression in fat (RPKM 26.8), lung (RPKM 19.5) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC9A3R2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2026902..2039026)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2076903..2089027)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr16.496 Neighboring gene neuropeptide W Neighboring gene nth like DNA glycosylase 1 Neighboring gene TSC complex subunit 2 Neighboring gene microRNA 1225 Neighboring gene polycystin 1, transient receptor potential channel interacting

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 (SLC9A3R2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC104639

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    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 signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type 2 metabotropic glutamate receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables type 3 metabotropic glutamate receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane 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
    NHE3 regulatory factor 2
    SRY-interacting protein 1
    sodium/hydrogen exchanger 3 kinase A regulatory protein
    solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
    solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), 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.

    Genomic

    1. NG_047104.1 RefSeqGene

      Range
      5035..17159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130012.3NP_001123484.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform a

      See identical proteins and their annotated locations for NP_001123484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC093513, BC014513
      Consensus CDS
      CCDS45382.1
      UniProtKB/Swiss-Prot
      Q15599
      Related
      ENSP00000408005.2, ENST00000424542.7
      Conserved Domains (2) summary
      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
    2. NM_001252073.2NP_001239002.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC093513, BX377861, CB961565
      Consensus CDS
      CCDS58407.1
      UniProtKB/Swiss-Prot
      Q15599
      Related
      ENSP00000456895.1, ENST00000566198.1
      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
    3. NM_001252075.2NP_001239004.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC093513, CB961565
      Related
      ENSP00000454690.1, ENST00000565855.5
      Conserved Domains (2) summary
      cd00992
      Location:36115
      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:119224
      EBP50_C; EBP50, C-terminal
    4. NM_001252076.2NP_001239005.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate splice site in the 3' coding region, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC093513, BQ687174, CB961565
      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:121215
      EBP50_C; EBP50, C-terminal
    5. NM_004785.6NP_004776.3  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform b

      See identical proteins and their annotated locations for NP_004776.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC093513, U82108
      Consensus CDS
      CCDS45383.1
      UniProtKB/Swiss-Prot
      Q15599
      Related
      ENSP00000402857.2, ENST00000432365.6
      Conserved Domains (2) summary
      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:232326
      EBP50_C; EBP50, C-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      2026902..2039026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023895.2XP_016879384.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform X3

      Related
      ENSP00000455909.1, ENST00000563587.5
    2. XM_005255702.4XP_005255759.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform X2

      Conserved Domains (2) summary
      cd00992
      Location:197276
      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:280338
      EBP50_C; EBP50, C-terminal
    3. XM_017023894.1XP_016879383.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform X1

    4. XM_006720981.1XP_006721044.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform X4

      See identical proteins and their annotated locations for XP_006721044.1

      Conserved Domains (2) summary
      cd00992
      Location:1493
      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:97202
      EBP50_C; EBP50, C-terminal
    5. XM_024450492.1XP_024306260.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF2 isoform X5

      Conserved Domains (2) summary
      cd00992
      Location:1493
      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:97191
      EBP50_C; EBP50, C-terminal
    Support Center