Gene Gene information from NCBI Gene database.
Entrez ID 6553
Gene name Solute carrier family 9 member A5
Gene symbol SLC9A5
Synonyms (NCBI Gene)
NHE5
Chromosome 16
Chromosome location 16q22.1
miRNA miRNA information provided by mirtarbase database.
93
miRTarBase ID miRNA Experiments Reference
MIRT026697 hsa-miR-192-5p Microarray 19074876
MIRT1369005 hsa-miR-1207-5p CLIP-seq
MIRT1369006 hsa-miR-1258 CLIP-seq
MIRT1369007 hsa-miR-125a-5p CLIP-seq
MIRT1369008 hsa-miR-125b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19276089, 24006492
GO:0005768 Component Endosome IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 21296876
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600477 11078 ENSG00000135740
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14940
Protein name Sodium/hydrogen exchanger 5 (Na(+)/H(+) exchanger 5) (NHE-5) (Solute carrier family 9 member 5)
Protein function Plasma membrane Na(+)/H(+) antiporter. Mediates the electroneutral exchange of intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry, thus regulating intracellular pH homeostasis, in particular in neural tissues (PubMed:10692428,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 50 455 Sodium/hydrogen exchanger family Family
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain (PubMed:7759094, PubMed:9933641). Expressed in neurons of the central and peripheral nervous system (PubMed:21551074, PubMed:9933641). Expressed also in testis, spleen, and skeletal muscle (PubMed:7759094). {E
Sequence
MLRAALSLLALPLAGAAEEPTQKPESPGEPPPGLELFRWQWHEVEAPYLVALWILVASLA
KIVFHLSRKVTSLVPESCLLILLGLVLGGIVLAVAKKAEYQLEPGTFFLFLLPPIVLDSG
YFMPSRLFFDNLGAILTYAVVGTLWNAFTTGAALWGLQQAGLVAPRVQAGLLDFLLFGSL
ISAVDPVAVLAVFEEVHVNETLFIIVFGESLLNDAVTVVLYKVCNSFVEMGSANVQATDY
LKGVASLFVVSLGGAAVGLVFAFLLALTTRFTKRVRIIEPLLVFLLAYAAYLTAEMASLS
AILAVTMCGLGCKKYVEANISHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWD
SGLVLGTLIFILFFRALGVVLQTWVLNQFRLVPLDKIDQVVMSYGGLRGAVAFALVILLD
RTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKW
LKVKRSEHHKPTLNQELHEHTFDHI
LAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRDAISFV
DQGGHVLSSTGLTLPSMPSRNSVAETSVTNLLRESGSGACLDLQVIDTVRSGRDREDAVM
HHLLCGGLYKPRRRYKASCSRHFISEDAQERQDKEVFQQNMKRRLESFKSTKHNICFTKS
KPRPRKTGRRKKDGVANAEATNGKHRGLGFQDTAAVILTVESEEEEEESDSSETEKEDDE
GIIFVARATSEVLQEGKVSGSLEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYVSSETT
KIVPVDMQTGWNQSISSLESLASPPCNQAPILTCLPPHPRGTEEPQVPLHLPSDPRSSFA
FPPSLAKAGRSRSESSADLPQQQELQPLMGHKDHTHLSPGTATSHWCIQFNRGSRL
Sequence length 896
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sodium/Proton exchangers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
KIDNEY FAILURE, CHRONIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic kidney disease stage 5 Kidney Disease BEFREE 10642288
★☆☆☆☆
Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder) Congenital secretory diarrhea BEFREE 11113072
★☆☆☆☆
Found in Text Mining only
Deep Vein Thrombosis Thrombosis BEFREE 29864786
★☆☆☆☆
Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1 Episodic Kinesigenic Dyskinesia BEFREE 12203045
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 31595389
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 24278418
★☆☆☆☆
Found in Text Mining only
Kidney Failure, Chronic Kidney Failure BEFREE 10642288
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 31595389
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 24278418
★☆☆☆☆
Found in Text Mining only
Obstructive azoospermia Obstructive azoospermia BEFREE 30956978
★☆☆☆☆
Found in Text Mining only