This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integ... See more...

Aliases for SLC9A3R1 Gene

Aliases for SLC9A3R1 Gene

  • SLC9A3 Regulator 1 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 1 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 1 2 3
  • Solute Carrier Family 9 Isoform A3 Regulatory Factor 1 3 4
  • Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF1 3 4
  • Regulatory Cofactor Of Na(+)/H(+) Exchanger 3 4
  • NHERF-1 3 4
  • NHERF1 3 4
  • EBP50 3 4
  • NHERF 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 1 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 1 2
  • Ezrin-Radixin-Moesin Binding Phosphoprotein-50 3
  • Ezrin-Radixin-Moesin-Binding Phosphoprotein 50 4
  • Sodium-Hydrogen Exchanger Regulatory Factor 1 4
  • Na+/H+ Exchange Regulatory Co-Factor 3
  • NPHLOP2 3

External Ids for SLC9A3R1 Gene

Previous GeneCards Identifiers for SLC9A3R1 Gene

  • GC17P072760
  • GC17P075802
  • GC17P073208
  • GC17P073341
  • GC17P070256
  • GC17P068155
  • GC17P072744

Summaries for SLC9A3R1 Gene

Entrez Gene Summary for SLC9A3R1 Gene

  • This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]

GeneCards Summary for SLC9A3R1 Gene

SLC9A3R1 (SLC9A3 Regulator 1) is a Protein Coding gene. Diseases associated with SLC9A3R1 include Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 and Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis. Among its related pathways are Tight junction and Thromboxane A2 receptor signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is SLC9A3R2.

UniProtKB/Swiss-Prot Summary for SLC9A3R1 Gene

  • 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 recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.

Gene Wiki entry for SLC9A3R1 Gene

Additional gene information for SLC9A3R1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A3R1 Gene

Genomics for SLC9A3R1 Gene

GeneHancer (GH) Regulatory Elements for SLC9A3R1 Gene

Promoters and enhancers for SLC9A3R1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A3R1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC9A3R1 gene promoter:
  • CBF-A
  • CBF-B
  • E47
  • GATA-3
  • HNF-4alpha1
  • NF-kappaB1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for SLC9A3R1 Gene

Genomic Locations for SLC9A3R1 Gene
chr17:74,748,612-74,769,360
(GRCh38/hg38)
Size:
20,749 bases
Orientation:
Plus strand
chr17:72,744,763-72,765,499
(GRCh37/hg19)
Size:
20,737 bases
Orientation:
Plus strand

Genomic View for SLC9A3R1 Gene

Genes around SLC9A3R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A3R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A3R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A3R1 Gene

Proteins for SLC9A3R1 Gene

  • Protein details for SLC9A3R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14745-NHRF1_HUMAN
    Recommended name:
    Na(+)/H(+) exchange regulatory cofactor NHE-RF1
    Protein Accession:
    O14745
    Secondary Accessions:
    • B3KY21
    • O43552
    • Q86WQ5

    Protein attributes for SLC9A3R1 Gene

    Size:
    358 amino acids
    Molecular mass:
    38868 Da
    Quaternary structure:
    • Homodimer, and heterodimer with SLC9A3R2. Binds the N-termini of EZR, RDX and MSN. Binds the C-termini of PDGFRA, PDGFRB, ADRB2, NOS2 and CFTR. Binds ARHGAP17, EPI64, RACK1, OPRK1, GNAQ, CTNNB1 and PLCB3. Binds PDZK1 (By similarity). Interacts with CLCN3. Binds the C-terminus of PAG1. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation. Forms a complex with CFTR and SLC4A7. Forms a complex with SLC4A7 and ATP6V1B1. Interacts with TRPC4 (via the PDZ-binding domain). Directly interacts with HTR4 (By similarity). Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); interaction is not detected in glomerular epithelium cells. Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); the interaction take place early in the secretory pathway and is necessary for its apical membrane sorting (By similarity). Interacts with SLC26A3 (By similarity). Interacts with MCC. Interacts with SLC34A1. Interacts (via the PDZ domains) with SLC26A6 isoform 4 and isoform 5.
    SequenceCaution:
    • Sequence=AAH49220.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SLC9A3R1 Gene

    Alternative splice isoforms for SLC9A3R1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9A3R1 Gene

Post-translational modifications for SLC9A3R1 Gene

Other Protein References for SLC9A3R1 Gene

Antibody Products

No data available for DME Specific Peptides for SLC9A3R1 Gene

Domains & Families for SLC9A3R1 Gene

Gene Families for SLC9A3R1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SLC9A3R1 Gene

Suggested Antigen Peptide Sequences for SLC9A3R1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ46618 fis, clone TLIVE2007736, highly similar to Ezrin-radixin-moesin-binding phosphoprotein 50 (B3KY21_HUMAN)
  • Solute carrier family 9 isoform A3 regulatory factor 1 (NHRF1_HUMAN)
genes like me logo Genes that share domains with SLC9A3R1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SLC9A3R1 Gene

Function for SLC9A3R1 Gene

Molecular function for SLC9A3R1 Gene

UniProtKB/Swiss-Prot 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 recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.
UniProtKB/Swiss-Prot Induction:
By estrogen.
GENATLAS Biochemistry:
solute carrier family 9 (sodium/hydrogen exchanger) isoform 3,regulatory factor 1,ezrin-radixin-myosin (ERM) binding phosphoprotein,widely expressed,principally in polarized epithelia,colocolizing with actin ezrin in apical microvilli of epithelial cells and of placental syncytiotrophoblast

Phenotypes From GWAS Catalog for SLC9A3R1 Gene

Gene Ontology (GO) - Molecular Function for SLC9A3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 16456542
GO:0005515 protein binding IPI 9430655
GO:0008013 beta-catenin binding IPI 17242191
GO:0017081 chloride channel regulator activity IDA 12881487
GO:0019902 phosphatase binding IPI 16456542
genes like me logo Genes that share ontologies with SLC9A3R1: view
genes like me logo Genes that share phenotypes with SLC9A3R1: view

Human Phenotype Ontology for SLC9A3R1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC9A3R1 Gene

MGI Knock Outs for SLC9A3R1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A3R1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC9A3R1 Gene

Localization for SLC9A3R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A3R1 Gene

Cytoplasm. Apical cell membrane. Endomembrane system; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus. Note=Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC9A3R1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 3
nucleus 2
extracellular 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9A3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005634 NOT nucleus IDA 17895247
GO:0005737 cytoplasm IDA,IEA 17895247
GO:0005886 plasma membrane IEA --
GO:0005902 microvillus IEA,IDA 17242191
genes like me logo Genes that share ontologies with SLC9A3R1: view

Pathways & Interactions for SLC9A3R1 Gene

genes like me logo Genes that share pathways with SLC9A3R1: view

SIGNOR curated interactions for SLC9A3R1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SLC9A3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003096 renal sodium ion transport IEA --
GO:0007097 nuclear migration IMP 24862762
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway IEA --
GO:0007605 sensory perception of sound IEA --
GO:0008285 negative regulation of cell proliferation IMP 20736378
genes like me logo Genes that share ontologies with SLC9A3R1: view

Drugs & Compounds for SLC9A3R1 Gene

(14) Drugs for SLC9A3R1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(4) Additional Compounds for SLC9A3R1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC9A3R1: view

Transcripts for SLC9A3R1 Gene

mRNA/cDNA for SLC9A3R1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A3R1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3R1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2:
SP3: -

Relevant External Links for SLC9A3R1 Gene

GeneLoc Exon Structure for
SLC9A3R1
ECgene alternative splicing isoforms for
SLC9A3R1

Expression for SLC9A3R1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC9A3R1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC9A3R1 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.6), Whole Blood (x5.1), Liver (x4.5), and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for SLC9A3R1 Gene

This gene is overexpressed in Nasal epithelium (8.0) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC9A3R1 Gene



Protein tissue co-expression partners for SLC9A3R1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC9A3R1 Gene:

SLC9A3R1

SOURCE GeneReport for Unigene cluster for SLC9A3R1 Gene:

Hs.724482

mRNA Expression by UniProt/SwissProt for SLC9A3R1 Gene:

O14745-NHRF1_HUMAN
Tissue specificity: Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast.

Evidence on tissue expression from TISSUES for SLC9A3R1 Gene

  • Nervous system(5)
  • Blood(4.7)
  • Pancreas(4.7)
  • Liver(4.6)
  • Intestine(4.4)
  • Kidney(4.2)
  • Eye(3.7)
  • Lung(3.7)
  • Skin(2.6)
  • Bone(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A3R1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC9A3R1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC9A3R1 Gene

Orthologs for SLC9A3R1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A3R1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A3R1 33 32
  • 99.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC9A3R1 33 32
  • 89.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A3R1 33 32
  • 89.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a3r1 17 33 32
  • 86.59 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a3r1 32
  • 85.92 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC9A3R1 33
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A3R1 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC9A3R1 33 32
  • 72.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC9A3R1 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a3r1 32
  • 61.04 (n)
Str.1984 32
zebrafish
(Danio rerio)
Actinopterygii LOC100329719 32
  • 63.04 (n)
SLC9A3R1 (2 of 2) 33
  • 52 (a)
OneToMany
slc9a3r1 33
  • 48 (a)
OneToMany
Dr.17541 32
fruit fly
(Drosophila melanogaster)
Insecta Sip1 33
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8280 33
  • 44 (a)
OneToMany
Species where no ortholog for SLC9A3R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC9A3R1 Gene

ENSEMBL:
Gene Tree for SLC9A3R1 (if available)
TreeFam:
Gene Tree for SLC9A3R1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A3R1: view image

Paralogs for SLC9A3R1 Gene

Paralogs for SLC9A3R1 Gene

(6) SIMAP similar genes for SLC9A3R1 Gene using alignment to 4 proteins:

  • NHRF1_HUMAN
  • B3KY21_HUMAN
  • J3QRA3_HUMAN
  • J3QRP6_HUMAN
genes like me logo Genes that share paralogs with SLC9A3R1: view

Variants for SLC9A3R1 Gene

Sequence variations from dbSNP and Humsavar for SLC9A3R1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs119486097 pathogenic, likely-benign, likely-pathogenic, Nephrolithiasis/osteoporosis, hypophosphatemic, 2, not specified, Hypophosphatemia, Nephrolithiasis, Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] 74,763,436(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs139622189 uncertain-significance, not provided, Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] 74,749,049(+) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147104235 uncertain-significance, Nephrolithiasis/osteoporosis, hypophosphatemic, 2 74,763,420(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs35910969 conflicting-interpretations-of-pathogenicity, Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] 74,749,174(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs41282065 uncertain-significance, Nephrolithiasis/osteoporosis, hypophosphatemic, 2, not provided, Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] 74,762,028(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC9A3R1 Gene

Variant ID Type Subtype PubMed ID
nsv523611 CNV loss 19592680
nsv952367 CNV deletion 24416366

Variation tolerance for SLC9A3R1 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A3R1 Gene

Human Gene Mutation Database (HGMD)
SLC9A3R1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A3R1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A3R1 Gene

Disorders for SLC9A3R1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC9A3R1 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NHRF1_HUMAN
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269 PubMed:18784102, ECO:0000269 PubMed:22506049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC9A3R1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC9A3R1: view

No data available for Genatlas for SLC9A3R1 Gene

Publications for SLC9A3R1 Gene

  1. NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PMID: 9430655) Murthy A … Ramesh V (The Journal of biological chemistry 1998) 2 3 4 23 56
  2. Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. (PMID: 9314537) Reczek D … Bretscher A (The Journal of cell biology 1997) 2 3 4 23 56
  3. NHERF1 mutations and responsiveness of renal parathyroid hormone. (PMID: 18784102) Karim Z … Prié D (The New England journal of medicine 2008) 3 4 23 56
  4. Structural basis for NHERF recognition by ERM proteins. (PMID: 16615918) Terawaki S … Hakoshima T (Structure (London, England : 1993) 2006) 3 4 23 56
  5. EBP50, a beta-catenin-associating protein, enhances Wnt signaling and is over-expressed in hepatocellular carcinoma. (PMID: 12830000) Shibata T … Hirohashi S (Hepatology (Baltimore, Md.) 2003) 3 4 23 56

Products for SLC9A3R1 Gene

Sources for SLC9A3R1 Gene