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Slc9a3r1 Gene Detail
Summary
  • Symbol
    Slc9a3r1
  • Name
    solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
  • Synonyms
    EBP-50, NHE-RF, NHERF1, sodium-hydrogen exchanger regulatory factor
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349482
    NCBI Gene: 26941
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:115163341-115181178 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 80.65 cM, cytoband E2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    167 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349482
protein coding gene Chr11:115163341-115181181 (.)
129S1/SvImJ MGP_129S1SvImJ_G0019373
protein coding gene Chr11:119163774-119183179 (+)
A/J MGP_AJ_G0019342
protein coding gene Chr11:113964014-113982110 (+)
AKR/J MGP_AKRJ_G0019312
protein coding gene Chr11:117364158-117381981 (+)
BALB/cJ MGP_BALBcJ_G0019316
protein coding gene Chr11:114381897-114399819 (+)
C3H/HeJ MGP_C3HHeJ_G0019122
protein coding gene Chr11:117715595-117734855 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019766
protein coding gene Chr11:122801792-122823454 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017389
protein coding gene Chr11:111007827-111025314 (+)
CAST/EiJ MGP_CASTEiJ_G0018677
protein coding gene Chr11:119021969-119041243 (+)
CBA/J MGP_CBAJ_G0019094
protein coding gene Chr11:127648025-127668659 (+)
DBA/2J MGP_DBA2J_G0019205
protein coding gene Chr11:113404120-113421950 (+)
FVB/NJ MGP_FVBNJ_G0019197
protein coding gene Chr11:112874989-112892908 (+)
LP/J MGP_LPJ_G0019275
protein coding gene Chr11:119543109-119562280 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019230
protein coding gene Chr11:126832645-126850483 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019804
protein coding gene Chr11:118022458-118040291 (+)
PWK/PhJ MGP_PWKPhJ_G0018441
protein coding gene Chr11:114679843-114697744 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018234
protein coding gene Chr11:117770058-117787964 (+)
WSB/EiJ MGP_WSBEiJ_G0018729
protein coding gene Chr11:117965348-117987319 (+)



Homology
more
  • Human Ortholog
    SLC9A3R1, SLC9A3 regulator 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC9A3R1, SLC9A3 regulator 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EBP50, NHERF, NHERF1, NHERF-1, NPHLOP2
  • Links
    NCBI Gene ID: 9368
    neXtProt AC: NX_O14745
    UniProt: O14745

  • Chr Location
    17q25.1; chr17:74748612-74769360 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SLC9A3R1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 26941 NCBI Gene Model | MGI Sequence Detail 17838 C57BL/6J ±  kb
    transcript NM_012030 RefSeq | MGI Sequence Detail 1922 C57BL/6  
    polypeptide P70441 UniProt | EBI | MGI Sequence Detail 355 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 119
      cDNA 117
      Primer pair 2

      Microarray probesets 5
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 11
      Gene Ontology 20
      Phenotypes 31
    • Earliest
      J:57785 Weinman EJ, et al., Molecular cloning of the cDNA and promoter sequences for the mouse sodium-hydrogen exchanger regulatory factor. Biochim Biophys Acta. 1999 Oct 6;1447(1):71-6
    • Latest
      J:263981 Benhamouche-Trouillet S, et al., Proliferation-independent role of NF2 (merlin) in limiting biliary morphogenesis. Development. 2018 Apr 30;145(9)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory