SLC4A4 (solute carrier family 4 member 4)

2007-02-01  

Identity

HGNC
LOCATION
4q13.3
LOCUSID
ALIAS
HNBC1,KNBC,NBC1,NBC2,NBCe1-A,SLC4A5,hhNMC,kNBC1,pNBC
FUSION GENES

Other Information

Locus ID:

NCBI: 8671
MIM: 603345
HGNC: 11030
Ensembl: ENSG00000080493

Variants:

dbSNP: 8671
ClinVar: 8671
TCGA: ENSG00000080493
COSMIC: SLC4A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080493ENST00000264485Q9Y6R1
ENSG00000080493ENST00000264485A0A024RD97
ENSG00000080493ENST00000340595Q9Y6R1
ENSG00000080493ENST00000351898Q9Y6R1
ENSG00000080493ENST00000425175Q9Y6R1
ENSG00000080493ENST00000425175A5JJ20
ENSG00000080493ENST00000512686Q9Y6R1
ENSG00000080493ENST00000638464A0A1W2PRU6
ENSG00000080493ENST00000639096A0A1W2PNW8
ENSG00000080493ENST00000649996Q9Y6R1
ENSG00000080493ENST00000649996A0A024RD97

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Bicarbonate transportersREACTOMER-HSA-425381

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
352602362022Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.1
352602362022Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.1
340133802021Sodium bicarbonate transporter NBCe1 regulates proliferation and viability of human prostate cancer cells LNCaP and PC3.1
341702912021Extracellular vesicles derived from cancer-associated fibroblast carries miR-224-5p targeting SLC4A4 to promote the proliferation, invasion and migration of colorectal cancer cells.12
346233312021Electrogenic sodium bicarbonate cotransporter NBCe1 regulates pancreatic β cell function in type 2 diabetes.9
347199492021A novel I551F variant of the Na(+)/HCO(3)(-) cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity.0
340133802021Sodium bicarbonate transporter NBCe1 regulates proliferation and viability of human prostate cancer cells LNCaP and PC3.1
341702912021Extracellular vesicles derived from cancer-associated fibroblast carries miR-224-5p targeting SLC4A4 to promote the proliferation, invasion and migration of colorectal cancer cells.12
346233312021Electrogenic sodium bicarbonate cotransporter NBCe1 regulates pancreatic β cell function in type 2 diabetes.9
347199492021A novel I551F variant of the Na(+)/HCO(3)(-) cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity.0
328784702020hsa_circRNA_001587 upregulates SLC4A4 expression to inhibit migration, invasion, and angiogenesis of pancreatic cancer cells via binding to microRNA-223.27
329491212020Prognostic Value of SLC4A4 and its Correlation with Immune Infiltration in Colon Adenocarcinoma.10
328784702020hsa_circRNA_001587 upregulates SLC4A4 expression to inhibit migration, invasion, and angiogenesis of pancreatic cancer cells via binding to microRNA-223.27
329491212020Prognostic Value of SLC4A4 and its Correlation with Immune Infiltration in Colon Adenocarcinoma.10
305263872019Expression, Localization, and Regulation of the Sodium Bicarbonate Cotransporter NBCe1 in the Thyroid.2

Citation

Dessen P

SLC4A4 (solute carrier family 4 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43621/gene-fusions/teaching-explorer/