Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9351
Gene name Gene Name - the full gene name approved by the HGNC.
NHERF family PDZ scaffold protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NHERF2
Synonyms (NCBI Gene) Gene synonyms aliases
E3KARP, NHE3RF2, NHERF-2, OCTS2, SIP-1, SIP1, SLC9A3R2, TKA-1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005146 hsa-miR-30a-5p pSILAC 18668040
MIRT005146 hsa-miR-30a-5p pSILAC 18668040
MIRT020575 hsa-miR-155-5p Proteomics 18668040
MIRT005146 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT045974 hsa-miR-125b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IBA 21873635
GO:0005102 Function Signaling receptor binding IPI 16456542
GO:0005515 Function Protein binding IPI 11285285, 12369822, 12444019, 15523054, 16203867, 16456542, 16615918, 17110338, 17242191, 19027007, 19555689, 20618342, 22587461, 25519916, 27018634, 32296183
GO:0005634 Component Nucleus IEA
GO:0005886 Component Plasma membrane IDA 11786550
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606553 11076 ENSG00000065054
Protein
UniProt ID Q15599
Protein name Na(+)/H(+) exchange regulatory cofactor NHE-RF2 (NHERF-2) (NHE3 kinase A regulatory protein E3KARP) (SRY-interacting protein 1) (SIP-1) (Sodium-hydrogen exchanger regulatory factor 2) (Solute carrier family 9 isoform A3 regulatory factor 2) (Tyrosine kina
Protein 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 phosphorylatio
PDB 2D11 , 2HE4 , 2OCS , 4P0C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 12 88 PDZ domain Domain
PF00595 PDZ 151 228 PDZ domain Domain
PF09007 EBP50_C 232 278 EBP50, C-terminal Domain
PF09007 EBP50_C 261 337 EBP50, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9054412, ECO:0000269|PubMed:9096337}.
Sequence
MAAPEPLRPRLCRLVRGEQGYGFHLHGEKGRRGQFIRRVEPGSPAEAAALRAGDRLVEVN
GVNVEGETHHQVVQRIKAVEGQTRLLVV
DQETDEELRRRQLTCTEEMAQRGLPPAHDPWE
PKPDWAHTGSHSSEAGKKDVSGPLRELRPRLCHLRKGPQGYGFNLHSDKSRPGQYIRSVD
PGSPAARSGLRAQDRLIEVNGQNVEGLRHAEVVASIKAREDEARLLVV
DPETDEHFKRLR
VTPTEEHVEGPLPSPVTNGT
SPAQLNGGSACSSRSDLPGSDKDTEDGSAWKQDPFQESGL
HLSPTAAEAKEKARAMRVNKRAPQMDWNRKREIFSNF
Sequence length 337
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Aldosterone-regulated sodium reabsorption  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208 20098615
Hypertension Hypertensive disease rs13306026 22228705
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS