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SLC9A3R2 SLC9A3 regulator 2 [ Homo sapiens (human) ]

Gene ID: 9351, updated on 7-Dec-2018

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

Genomic context

See SLC9A3R2 in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (2026868..2039026)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2076869..2089027)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 219, pseudogene 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 FunctionsWhat'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 BioSystems

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
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding HDA PubMed 
phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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), isoform 3 regulator 2
solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2
solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
solute carrier family 9 isoform A3 regulatory factor 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)

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
    5001..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, ENST00000424542.6
    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:232337
    EBP50_C; EBP50, C-terminal
  2. NM_001252073.1NP_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_001252075.1NP_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_001252076.1NP_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_004785.5NP_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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    2026868..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
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