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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC9A3R2 Gene

protein-coding GIFtS: 59
GCID: GC16P002075

Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 2¹ ²		NHE3 Kinase A Regulatory Protein E3KARP² ³
NHERF2² ³ ⁵		SRY-Interacting Protein 1² ³
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 2¹ ²		SIP1² ⁵
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 2¹ ²		E3KARP²
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 2¹ ²		NHE3RF2²
Solute Carrier Family 9 Isoform A3 Regulatory Factor 2² ³		OCTS2²
Tyrosine Kinase Activator Protein 1² ³		Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF2²
NHERF-2² ³		NHE3 Regulatory Factor 2²
SIP-1² ³		Sodium/Hydrogen Exchanger 3 Kinase A Regulatory Protein²
TKA-1² ³		Sodium-Hydrogen Exchanger Regulatory Factor 2³

External Ids:	HGNC: 11076¹	Entrez Gene: 9351²	Ensembl: ENSG00000065054⁷	OMIM: 606553⁵	UniProtKB: Q15599³

Export aliases for SLC9A3R2 gene to outside databases

Previous GC identifers: GC16P002094 GC16P002103 GC16P002016 GC16P002076 GC16P002001

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC9A3R2 Gene:

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)

GeneCards Summary for SLC9A3R2 Gene:

SLC9A3R2 (solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2) is a protein-coding gene. Diseases associated with SLC9A3R2 include secretory diarrhea, and cystic fibrosis, and among its related super-pathways are Regulation of CFTR activity (norm and CF) and Clathrin-dependent protein traffic. GO annotations related to this gene include beta-catenin binding and receptor binding. An important paralog of this gene is SLC9A3R1.

UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599

Function: Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family

and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for

cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus

Gene Wiki entry for SLC9A3R2 (Sodium-hydrogen exchange regulatory cofactor 2) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NT_010393.16 NC_018927.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC9A3R2 gene promoter:
Egr-3 NF-1 STAT3 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC9A3R2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC9A3R2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC9A3R2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

SLC9A3R2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A3R2 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P002075: view genomic region (about GC identifiers)

Start:	2,075,357 bp from pter	End:	2,089,027 bp from pter
Size:	13,671 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599 (See protein sequence)

Recommended Name: Na(+)/H(+) exchange regulatory cofactor NHE-RF2

Size: 337 amino acids; 37414 Da

Subunit: Homodimer, and heterodimer with SLC9A3R1. Binds PDZK1. Found in a complex with EZR, PODXL and SLC9A3R2

(By similarity). Interacts (via the PDZ domains) with PODXL (via the C-terminal PDZ-binding motif DTHL);

interaction is detected in glomerular epithelium cells (By similarity). Binds ADRB2, SLC9A3, P2RY1, P2YR2, SRY,

RDX and LPAR2. Interacts with MCC and PODXL. Interacts with SGK1 and KCNJ1/ROMK1

Subcellular location: Endomembrane system; Peripheral membrane protein. Nucleus. Apical cell membrane (By

similarity). Note=Localizes with EZR and PODXL at the apical cell membrane of glomerular epithelium cells and the

sides of the food processes (By similarity). Nuclear, in a punctate pattern

Sequence caution: Sequence=AAH14513.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAA90511.1; Type=Frameshift; Positions=309;

3 PDB 3D structures from and Proteopedia for SLC9A3R2:

2D11 (3D)

2HE4 (3D)

2OCS (3D)

Secondary accessions: D3DU84 D3DU85 H3BSV6 O00272 O00556 Q3KQY7

Alternative splicing: 3 isoforms: Q15599-1 Q15599-2 Q15599-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC9A3R2: NX_Q15599

Explore proteomics data for SLC9A3R2 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q15599

SLC9A3R2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (5 alternative transcripts):

NP_001123484.1 NP_001239002.1 NP_001239004.1 NP_001239005.1 NP_004776.3

ENSEMBL proteins:

ENSP00000454361 ENSP00000408005 ENSP00000402857 ENSP00000455909 ENSP00000457755

ENSP00000454690 ENSP00000456895

Human Recombinant Protein Products for SLC9A3R2:

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	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IDA	--
GO:0012505	endomembrane system	IEA	--
GO:0016324	apical plasma membrane	IEA	--

SLC9A3R2 for ontologies About GeneDecksing

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Assay Products for SLC9A3R2:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

3 InterPro protein domains:

IPR001478 PDZ

IPR015098 EBP50_C-term

IPR017300 NaH_exchngr_reg_CF_NHE-RF

Graphical View of Domain Structure for InterPro Entry Q15599

ProtoNet protein and cluster: Q15599

UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599

Similarity: Contains 2 PDZ (DHR) domains

SLC9A3R2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NHRF2_HUMAN, Q15599

Function: Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family

and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for

cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	IPI	16456542
GO:0005515	protein binding	IPI	11285285
GO:0008013	beta-catenin binding	IPI	17242191
GO:0008022	protein C-terminus binding	IPI	11786550
GO:0019902	phosphatase binding	IPI	16456542

SLC9A3R2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SLC9A3R2:

Decreased nuclei size in G2M

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Slc9a3r2):

homeostasis/metabolism

SLC9A3R2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC9A3R2

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genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC9A3R2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A3R2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SLC9A3R2 About (see all 8)

See pathways by source

SuperPath

Contained pathways About

wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

0.38

Regulation of CFTR activity (norm and CF)

0.38

Clathrin-dependent protein traffic

wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

0.37

Ca-dependent events

Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

0.35

Neuroscience

Neuroscience

LPA receptor mediated events

LPA receptor mediated events

Pathways by source See SuperPaths
Show all pathways

2 Cell Signaling Technology (CST) Pathways for SLC9A3R2

	Neuroscience
	Glucose / Energy Metabolism

3 GeneGo (Thomson Reuters) Pathways for SLC9A3R2

	wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
	Regulation of CFTR activity (norm and CF)
	wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

2 BioSystems Pathways for SLC9A3R2

	PDGFR-beta signaling pathway
	LPA receptor mediated events

1 PharmGKB Pathway for SLC9A3R2

Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for SLC9A3R2):

Aldosterone-regulated sodium reabsorption

SLC9A3R2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC9A3R2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/57 Interacting proteins for SLC9A3R2 (Q15599^{1, 2, 3} ENSP00000408005⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CFTR	P13569¹^,²^,³, ENSP00000003084⁴	EBI-1149760,EBI-349854 MINT-1787274 MINT-1787368 MINT-1787402 I2D: score=6 STRING: ENSP00000003084
PTEN	P60484²^,³, ENSP00000361021⁴	MINT-2832573 MINT-2832684 MINT-2832646 MINT-2832774 MINT-2832546 I2D: score=3 STRING: ENSP00000361021
SLC26A3	P40879²^,³, ENSP00000345873⁴	MINT-1787249 MINT-1787327 MINT-1787222 MINT-1792121 MINT-1787290 I2D: score=2 STRING: ENSP00000345873
SRY	Q05066²^,³, ENSP00000372547⁴	MINT-68607 MINT-68601 MINT-60076 I2D: score=2 STRING: ENSP00000372547
SIAH1	Q8IUQ4²^,³, ENSP00000349156⁴	MINT-14500 MINT-14499 I2D: score=3 STRING: ENSP00000349156

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006461	protein complex assembly	TAS	9748260
GO:0014067	negative regulation of phosphatidylinositol 3-kinase cascade	IEA	--

SLC9A3R2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC9A3R2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC9A3R2 (NHRF2)

1 HMDB Compound for SLC9A3R2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

10 Novoseek inferred chemical compound relationships for SLC9A3R2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cariporide	81.7	3	11120691 (1), 12691375 (1), 10482177 (1)
eipa	54.5	1	11122185 (1)
amiloride	45.1	2	15010500 (1), 11937337 (1)
bcecf	39.7	1	11494089 (1)
sodium	30.4	2	16775092 (1)
calcium	26.9	11	19017653 (2), 15319523 (2), 15665527 (2), 12954600 (1) (see all 6)
bicarbonate	21.3	1	12369822 (1)
nitric oxide	0	1	12780384 (1)
lipid	0	1	8889271 (1)
tyrosine	0	2	15115658 (1), 9032395 (1)

Search CenterWatch for drugs/clinical trials and news about SLC9A3R2 / NHRF2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC9A3R2 gene (5 alternative transcripts):

NM_001130012.2 NM_001252073.1 NM_001252075.1 NM_001252076.1 NM_004785.5

Unigene Cluster for SLC9A3R2:

Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2

Hs.440896 [show with all ESTs]

Unigene Representative Sequence: NM_001130012

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000567504 ENST00000424542(uc002coj.3 uc002coi.3 uc021tan.1 uc002cok.3 uc021tao.1)

ENST00000432365 ENST00000563587 ENST00000561844 ENST00000565086 ENST00000565855

ENST00000566198 ENST00000564033

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Additional mRNA sequence:

AF004900.1 AF035771.1 BC014513.1 BC069014.1 BC106001.1 U82108.1 Z50150.1

16 DOTS entries:

DT.453793 DT.97854562 DT.100766440 DT.120665846 DT.92423735 DT.75151485 DT.95277712 DT.120665851

DT.87015433 DT.97854563 DT.40303697 DT.92412961 DT.92423736 DT.95359164 DT.97776124 DT.443152

24/176 AceView cDNA sequences (see all 176):

AW954779 BM747412 BM771164 BM770703 BM771285 AF035771 BM771363 BQ687174

CD514565 CR617760 BM740110 BM770163 BM751875 BC014513 F18486 BQ672955

BM760110 BM913340 AA340577 BM770118 CR593583 BM771209 BM771384 BM770699

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3R2 (see all 10) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	·	5c	^	6	^	7a	·	7b	·	7c	^	8	^	9	^	10a	·	10b	^	11a	·	11b	·	11c	·	11d	·	11e	·	11f	·	11g
SP1:					-				-		-		-		-		-														-		-
SP2:					-				-		-		-		-		-														-		-		-
SP3:									-		-		-		-		-														-		-
SP4:																	-														-		-
SP5:																	-														-		-

ECgene alternative splicing isoforms for SLC9A3R2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC9A3R2 expression in normal human tissues (normalized intensities) SLC9A3R2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTTCCACTTA

About this image

SLC9A3R2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/21 selected tissues (see all 21) fully expand


Colon (Gastrointestinal Tract) fully expand to see all 3 entries
colon ; peripheral nerve/ganglion

Uterus (Reproductive System) fully expand to see all 3 entries
uterus, post-menopause ; glandular cells

Liver (Hepatobiliary System) fully expand to see all 2 entries
Hepatocytes Liver Lobule
liver ; bile duct cells

Stomach (Gastrointestinal Tract) fully expand to see all 2 entries
stomach, upper ; glandular cells

Testis (Reproductive System) fully expand to see all 2 entries
seminal vesicle ; glandular cells

See SLC9A3R2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC9A3R2

SOURCE GeneReport for Unigene cluster: Hs.440896

UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599

Tissue specificity: Widely expressed

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SLC9A3R2 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc9a3r2^{1 , 5}	solute carrier family 9 (sodium/hydrogen exchanger), more^{1, 5}	87.64(n)¹ 91.69(a)¹		17 (12.43 cM)⁵ 65962¹ NM_023055.2¹ NP_075542.2¹ 24639282⁵
chicken (Gallus gallus)	Aves	SLC9A3R2¹	solute carrier family 9 (sodium/hydrogen exchanger), more	72.06(n) 71.26(a)		416550 XM_414851.3 XP_414851.3
African clawed frog (Xenopus laevis)	Amphibia	MGC68451²	hypothetical protein MGC68451	75.5(n)		BC063721.1
zebrafish (Danio rerio)	Actinopterygii	LOC100535100¹	Na(+)/H(+) exchange regulatory cofactor NHE-RF2-like	63.26(n) 65.81(a)		100535100 XM_003198073.1 XP_003198121.1
fruit fly (Drosophila melanogaster)	Insecta	Sip1⁶	SRY interacting protein 1	26(a)	1 → many	2R(13282101-13292678)

ENSEMBL Gene Tree for SLC9A3R2 (if available)
TreeFam Gene Tree for SLC9A3R2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC9A3R2 gene

SLC9A3R1² PDZK1² PDZD3²

5 SIMAP similar genes for SLC9A3R2 using alignment to 6 protein entries: NHRF2_HUMAN (see all proteins):

SLC9A3R1 ARHGAP23 PDZK1P1 PDZK1P2 PDZD3

SLC9A3R2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60800997^1,2	C	--	2074956(+)	`GCTCCC/-GGCCC`	2	--	us2k¹		2		NA CSA	4
rs12386003^1,2	C,A	--	2074965(+)	`gccCCC/TCAGCC`	2	--	us2k¹		1		WA	2
rs190673612^1,2		--	2075161(+)	`GAAGCC/TACAGC`	2	--	us2k¹		0	--	--	--	--
rs145567942^1,2	C	--	2075170(+)	`GCCTGC/TCAGGT`	2	--	us2k¹		0	--	--	--	--
rs11642998^1,2	H	--	2075332(+)	`GCCAGA/TCAGGC`	2	--	us2k¹		0	--	--	--	--
rs73496086^1,2	C,F	--	2075598(+)	`GACTGC/TGCCAA`	2	--	us2k¹		2		WA	120
rs71385729^1,2	C,F	--	2075783(+)	`AGCATG/AGACTC`	2	--	us2k¹		3		NA	124
rs182849247^1,2		--	2075794(+)	`CGAATC/TTCACA`	2	--	us2k¹		0	--	--	--	--
rs187349969^1,2		--	2075795(+)	`GAATCA/TCACAT`	2	--	us2k¹		0	--	--	--	--
rs74574144^1,2	F	--	2075829(+)	`GAGGCT/CTCGTG`	2	--	us2k¹		1		EA	120

HapMap Linkage Disequilibrium report for SLC9A3R2 (2075357 - 2089027 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/27 variations for SLC9A3R2 (see all 27): About this table

Variant ID	Type	Subtype	PubMed ID
esv2750375	CNV	Deletion	23290073
esv2422427	CNV	Duplication	17116639
dgv336n27	CNV	Loss	19166990
dgv2545n71	CNV	Loss	21882294
dgv2546n71	CNV	Loss	21882294
nsv905048	CNV	Loss	21882294
nsv905101	CNV	Loss	21882294
dgv2540n71	CNV	Loss	21882294
nsv905102	CNV	Loss	21882294
nsv523037	CNV	Loss	19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 606553 OMIM disorders: --

14 diseases for SLC9A3R2: About MalaCards

secretory diarrhea cystic fibrosis myocardial stunning diarrhea

ischemia cholera essential hypertension malignant glioma

myocardial infarction hypertension colon cancer adenoma

endotheliitis neuronitis

SLC9A3R2 for disorders About GeneDecksing

9 Novoseek inferred disease relationships for SLC9A3R2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acidosis	51.3	2	9659815 (1)
cystic fibrosis	45.6	2	10893422 (1), 12387817 (1)
myocardial ischemia	28.9	1	12691374 (1)
ischemia	26	4	12691375 (1), 12942154 (1), 9659815 (1), 10482177 (1)
heart failure	11.2	1	12942154 (1)
hypertrophy	2.26	2	12942154 (1), 17339567 (1)
myocardial infarction	0	2	11120691 (1), 12691375 (1)
necrosis	0	4	12691375 (1), 10482177 (1)
inflammation	0	1	10554680 (1)

Export disorders for SLC9A3R2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SLC9A3R2 gene, integrated from 9 sources (see all 160):
(articles sorted by number of sources associating them with SLC9A3R2)

Utopia: connect your pdf to the dynamic
world of online information

A C-terminal motif found in the beta2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na+/H+ exchanger regulatory factor family of PDZ proteins. (PubMed id 9671706)^{1, 2, 3, 9} Hall R.A....Lefkowitz R.J. (1998)
The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains. (PubMed id 9054412)^{1, 2, 3} Poulat F.... Berta P. (1997)
cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger 3 (NHE3) are dependent on the presence but not the phosphorylation of NHE regulatory factor. (PubMed id 10455146)^{1, 2, 9} Zizak M.... Weinman E.J. (1999)
cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein. (PubMed id 9096337)^{1, 2, 9} Yun C.H.C.... Donowitz M. (1997)
Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1. (PubMed id 14623317)^{1, 2, 9} Palmada M....Lang F. (2003)
Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. (PubMed id 9831664)^{1, 2, 9} Imai K.... Seki S. (1998)
MCC, a new interacting protein for Scrib, is required for cell migration in epithelial cells. (PubMed id 19555689)^{1, 2} Arnaud C....Lecine P. (2009)
Structural basis for NHERF recognition by ERM proteins. (PubMed id 16615918)^{1, 2} Terawaki S.... Hakoshima T. (2006)
Gp135/podocalyxin and NHERF-2 participate in the formation of a preapical domain during polarization of MDCK cells. (PubMed id 15642748)^{1, 2} Meder D....Fullekrug J. (2005)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)^{1, 2} Martin J.... Pennacchio L.A. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9351	HGNC: 11076	AceView: SLC9A3R2	Ensembl:ENSG00000065054	euGenes: HUgn9351
ECgene: SLC9A3R2	Kegg: 9351	H-InvDB: SLC9A3R2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SLC9A3R2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC9A3R2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC9A3R2 gene:
Search GeneIP for patents involving SLC9A3R2

GeneCards and IP:
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Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton...

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SLC9A3R2 (Gene Symbol)
Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 2
NHERF2
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
Tyrosine Kinase Activator Protein 1
NHERF-2
SIP-1
TKA-1
NHE3 Kinase A Regulatory Protein E3KARP
SRY-Interacting Protein 1
SIP1
E3KARP
NHE3RF2
OCTS2
Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF2
NHE3 Regulatory Factor 2
Sodium/Hydrogen Exchanger 3 Kinase A Regulatory Protein
Sodium-Hydrogen Exchanger Regulatory Factor 2

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SLC9A3R2 Gene

Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton...

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