SLC4A4 (solute carrier family 4 member 4)

2007-02-01  

Identity

HGNC
SLC4A4
LOCATION
4q13.3
LOCUSID
8671
ALIAS
HNBC1,KNBC,NBC1,NBC2,NBCe1-A,SLC4A5,hhNMC,kNBC1,pNBC
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
219765112011NBCe1 mediates the acute stimulation of astrocytic glycolysis by extracellular K+.48
159300882005Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.41
213175372011IRBIT governs epithelial secretion in mice by antagonizing the WNK/SPAK kinase pathway.41
167075542006The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.40
145676932003Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter.38
166874072006Effect of human carbonic anhydrase II on the activity of the human electrogenic Na/HCO3 cotransporter NBCe1-A in Xenopus oocytes.34
152180652004Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells.33
184413262008Entry to "formula tunnel" revealed by SLC4A4 human mutation and structural model.33
220123312012Relief of autoinhibition of the electrogenic Na-HCO(3) [corrected] cotransporter NBCe1-B: role of IRBIT vs.amino-terminal truncation.30

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/slc4a4