SLC9A3R2 (SLC9A3 regulator 2)

2007-02-01  

Identity

HGNC
SLC9A3R2
LOCATION
16p13.3
LOCUSID
9351
ALIAS
E3KARP,NHE3RF2,NHERF-2,NHERF2,OCTS2,SIP-1,SIP1,TKA-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9351
MIM: 606553
HGNC: 11076
Ensembl: ENSG00000065054

Variants:

dbSNP: 9351
ClinVar: 9351
TCGA: ENSG00000065054
COSMIC: SLC9A3R2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065054ENST00000424542Q15599
ENSG00000065054ENST00000432365Q15599
ENSG00000065054ENST00000561844H3BUQ9
ENSG00000065054ENST00000563587H3BQS0
ENSG00000065054ENST00000565855H3BN50
ENSG00000065054ENST00000566198Q15599
ENSG00000065054ENST00000567504H3BMF5

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27745ELF2GenePathwayassociated

References

Pubmed IDYearTitleCitations
120753542002Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling.82
157287082005LPA2 receptor mediates mitogenic signals in human colon cancer cells.47
166159182006Structural basis for NHERF recognition by ERM proteins.43
172298872007NHERF links the N-cadherin/catenin complex to the platelet-derived growth factor receptor to modulate the actin cytoskeleton and regulate cell motility.39
120800472002The adenosine 2b receptor is recruited to the plasma membrane and associates with E3KARP and Ezrin upon agonist stimulation.36
123698222002The down regulated in adenoma (dra) gene product binds to the second PDZ domain of the NHE3 kinase A regulatory protein (E3KARP), potentially linking intestinal Cl-/HCO3- exchange to Na+/H+ exchange.31
117865502002Plasma membrane Ca2+ ATPase isoform 2b interacts preferentially with Na+/H+ exchanger regulatory factor 2 in apical plasma membranes.28
118930832002Distinct cell type-specific expression of scaffolding proteins EBP50 and E3KARP: EBP50 is generally expressed with ezrin in specific epithelia, whereas E3KARP is not.28
211911062011NHERF1 and NHERF2 are necessary for multiple but usually separate aspects of basal and acute regulation of NHE3 activity.28
211343772011MAGI-3 competes with NHERF-2 to negatively regulate LPA2 receptor signaling in colon cancer cells.27

Citation

Dessen P

SLC9A3R2 (SLC9A3 regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43686/slc9a3r2