Gene Gene information from NCBI Gene database.
Entrez ID 57835
Gene name Solute carrier family 4 member 5
Gene symbol SLC4A5
Synonyms (NCBI Gene)
NBC4NBCe2
Chromosome 2
Chromosome location 2p13.1
Summary This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarb
miRNA miRNA information provided by mirtarbase database.
233
miRTarBase ID miRNA Experiments Reference
MIRT1364947 hsa-miR-122 CLIP-seq
MIRT1364948 hsa-miR-1234 CLIP-seq
MIRT1364949 hsa-miR-1305 CLIP-seq
MIRT1364950 hsa-miR-1324 CLIP-seq
MIRT1364951 hsa-miR-1343 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:0002064 Process Epithelial cell development IEA
GO:0003014 Process Renal system process IBA
GO:0003014 Process Renal system process IEA
GO:0003073 Process Regulation of systemic arterial blood pressure IEA
GO:0005452 Function Solute:inorganic anion antiporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606757 18168 ENSG00000188687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BY07
Protein name Electrogenic sodium bicarbonate cotransporter 4 (NBCe2) (Solute carrier family 4 member 5)
Protein function Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07565 Band_3_cyto 141 408 Band 3 cytoplasmic domain Domain
PF00955 HCO3_cotransp 488 1023 HCO3- transporter family Family
Tissue specificity TISSUE SPECIFICITY: Highest expression observed in liver, spleen and testis; moderate expression in the choroid plexus, hippocampus, cerebrum and cerebellum of brain, and in kidney cortex and kidney medulla. Also observed in heart, pancreas, muscle, lung,
Sequence
MKVKEEKAGVGKLDHTNHRRRFPDQKECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWG
LRPDQPQQELTGPGSGASSQDSSMDLISRTRSPAAEQLQDILGEEDEAPNPTLFTEMDTL
QHDGDQMEWKESARWIKFEEKVEEGGERWSKPHVSTLSLHSLFELRTCLQTGTVLLDLDS
GSLPQIIDDVIEKQIEDGLLRPELRERVSYVLLRRHRHQTKKPIHRSLADIGKSVSTTNR
SPARSPGAGPSLHHSTEDLRMRQSANYGRLCHAQSRSMNDISLTPNTDQRKNKFMKKIPK
DSEASNVLVGEVDFLDQPFIAFVRLIQSAMLGGVTEVPVPTRFLFILLGPSGRAKSYNEI
GRAIATLMVDDLFSDVAYKARNREDLIAGIDEFLDEVIVLPPGEWDPN
IRIEPPKKVPSA
DKRKSVFSLAELGQMNGSVGGGGGAPGGGNGGGGGGGSGGGAGSGGAGGTSSGDDGEMPA
MHEIGEELIWTGRFFGGLCLDIKRKLPWFPSDFYDGFHIQSISAILFIYLGCITNAITFG
GLLGDATDNYQGVMESFLGTAMAGSLFCLFSGQPLIILSSTGPILIFEKLLFDFSKGNGL
DYMEFRLWIGLHSAVQCLILVATDASFIIKYITRFTEEGFSTLISFIFIYDAIKKMIGAF
KYYPINMDFKPNFITTYKCECVAPDTVNTTVFNASAPLAPDTNASLYNLLNLTALDWSLL
SKKECLSYGGRLLGNSCKFIPDLALMSFILFFGTYSMTLTLKKFKFSRYFPTKVRALVAD
FSIVFSILMFCGIDACFGLETPKLHVPSVIKPTRPDRGWFVAPFGKNPWWVYPASILPAL
LVTILIFMDQQITAVIVNRKENKLKKAAGYHLDLFWVGILMALCSFMGLPWYVAATVISI
AHIDSLKMETETSAPGEQPQFLGVREQRVTGIIVFILTGISVFLAPILKCIPLPVLYGVF
LYMGVASLNGIQMGTGGSEFKIQKKLTPFWERCKLFLMPAKHQPDHAFLRHVPLRRIHLF
TLV
QILCLAVLWILKSTVAAIIFPVMILGLIIVRRLLDFIFSQHDLAWIDNILPEKEKKE
TDKKRKRKKGAHEDCDEEPQFPPPSVIKIPMESVQSDPQNGIHCIARKRSSSWSYSL
Sequence length 1137
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Bile secretion   Bicarbonate transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
POST-TRAUMATIC STRESS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC4A5-related disorder Likely benign; Benign ClinVar
★★☆☆☆
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
Alstrom Syndrome Alstrom Syndrome BEFREE 10978526
★☆☆☆☆
Found in Text Mining only
Alstrom Syndrome Alstrom syndrome Pubtator 11087115 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30541599 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 38636399 Associate
★☆☆☆☆
Found in Text Mining only
Conotruncal cardiac defects Conotruncal cardiac defect Pubtator 19493349 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 19237446, 19487301, 21859746, 22987918, 29642240 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 14732741, 22987918, 29642240
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 35150959 Stimulate
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 31048755 Associate
★☆☆☆☆
Found in Text Mining only