SLC9B1 (solute carrier family 9 member B1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
150159
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 9 member B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC9B1
Synonyms (NCBI Gene) Gene synonyms aliases
NHA1, NHEDC1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript varian
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005929 Component Cilium IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0006812 Process Monoatomic cation transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611527 24244 ENSG00000164037
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q4ZJI4
Protein name Sodium/hydrogen exchanger 9B1 (Na(+)/H(+) exchanger-like domain-containing protein 1) (NHE domain-containing protein 1) (Sodium/hydrogen exchanger-like domain-containing protein 1) (Solute carrier family 9, subfamily B member 1)
Protein function Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 96 → 491 Sodium/hydrogen exchanger family Family
Tissue specificity TISSUE SPECIFICITY: Expressed only in the testis. {ECO:0000269|PubMed:16850186}.
Sequence
Sequence length 515
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Stimuli-sensing channels
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Type 1 Associate 34556755
Migraine Disorders Associate 34273149