• Gene id: 9498

Gene Summary

• Gene Symbol: SLC4A8   Gene   UCSC   Ensembl
• Aliases: NBC3, NDCBE
• Gene name: solute carrier family 4 member 8
• Alternate names: electroneutral sodium bicarbonate exchanger 1, electroneutral Na(+)-driven Cl-HCO3 exchanger, k-NBC3, solute carrier family 4, sodium bicarbonate cotransporter, member 8,
• Gene location: 12q13.13 (51391316: 51515762)     Exons: 33     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-D
• OMIM: 182450

Protein Summary

• Protein general information: Q2Y0W8  
  • Name: Electroneutral sodium bicarbonate exchanger 1 (Electroneutral Na(+) driven Cl HCO3 exchanger) (Solute carrier family 4 member 8) (k NBC3)
  • Length: 1093  
  • Mass: 122938
  • Tissue specificity: Expressed in the pyramidal cells of the hippocampus (at protein level). Highly expressed in all major regions of the brain, spinal column and in testis, and moderate levels in trachea, thyroid and medulla region of kidney. Low expressi
• Sequence:

  MPAAGSNEPDGVLSYQRPDEEAVVDQGGTSTILNIHYEKEELEGHRTLYVGVRMPLGRQSHRHHRTHGQKHRRRG
  RGKGASQGEEGLEALAHDTPSQRVQFILGTEEDEEHVPHELFTELDEICMKEGEDAEWKETARWLKFEEDVEDGG
  ERWSKPYVATLSLHSLFELRSCLINGTVLLDMHANSIEEISDLILDQQELSSDLNDSMRVKVREALLKKHHHQNE
  KKRNNLIPIVRSFAEVGKKQSDPHLMDKHGQTVSPQSVPTTNLEVKNGVNCEHSPVDLSKVDLHFMKKIPTGAEA
  SNVLVGEVDILDRPIVAFVRLSPAVLLSGLTEVPIPTRFLFILLGPVGKGQQYHEIGRSMATIMTDEIFHDVAYK
  AKERDDLLAGIDEFLDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKMPGVPNGNVCHIEQEPHGGHSGPELQRTGR
  LFGGLVLDIKRKAPWYWSDYRDALSLQCLASFLFLYCACMSPVITFGGLLGEATEGRISAIESLFGASMTGIAYS
  LFAGQALTILGSTGPVLVFEKILFKFCKDYALSYLSLRACIGLWTAFLCIVLVATDASSLVCYITRFTEEAFASL
  ICIIFIYEAIEKLIHLAETYPIHMHSQLDHLSLYYCRCTLPENPNNHTLQYWKDHNIVTAEVHWANLTVSECQEM
  HGEFMGSACGHHGPYTPDVLFWSCILFFTTFILSSTLKTFKTSRYFPTRVRSMVSDFAVFLTIFTMVIIDFLIGV
  PSPKLQVPSVFKPTRDDRGWIINPIGPNPWWTVIAAIIPALLCTILIFMDQQITAVIINRKEHKLKKGCGYHLDL
  LMVAIMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGEQPKFLGIREQRVTGLMIFVLMGCSVFMTAILK
  FIPMPVLYGVFLYMGVSSLQGIQFFDRLKLFGMPAKHQPDFIYLRHVPLRKVHLFTLIQLTCLVLLWVIKASPAA
  IVFPMMVLALVFVRKVMDLCFSKRELSWLDDLMPESKKKKLDDAKKKAKEEEEAEKMLEIGGDKFPLESRKLLSS
  PGKNISCRCDPSEINISDEMPKTTVWKALSMNSGNAKEKSLFN

• Structural information:
  • Interpro: IPR013769  IPR011531  IPR003020  IPR003024  IPR016152  
  • PDB: 5JHO
  • PDBsum: 5JHO
  • STRING: ENSP00000405812
• Other Databases: GeneCards:  SLC4A8  Malacards:  SLC4A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902476	chloride transmembrane transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0008510	sodium:bicarbonate symporter activity	IDA	molecular function
GO:0015081	sodium ion transmembrane transporter activity	IDA	molecular function
GO:0015106	bicarbonate transmembrane transporter activity	IDA	molecular function
GO:0015108	chloride transmembrane transporter activity	IDA	molecular function
GO:0030425	dendrite	IDA	cellular component
GO:0015701	bicarbonate transport	IDA	biological process
GO:0051453	regulation of intracellular pH	IDA	biological process
GO:0051453	regulation of intracellular pH	IDA	biological process
GO:2000302	positive regulation of synaptic vesicle exocytosis	ISS	biological process
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0032279	asymmetric synapse	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0097386	glial cell projection	ISS	cellular component
GO:0097457	hippocampal mossy fiber	ISS	cellular component
GO:0098978	glutamatergic synapse	ISS	cellular component
GO:0098978	glutamatergic synapse	ISS	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0043195	terminal bouton	ISS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0098793	presynapse	ISS	cellular component
GO:0098793	presynapse	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0032809	neuronal cell body membrane	ISS	cellular component
GO:0032280	symmetric synapse	ISS	cellular component
GO:0051453	regulation of intracellular pH	ISS	biological process
GO:0050804	modulation of chemical synaptic transmission	ISS	biological process
GO:0008510	sodium:bicarbonate symporter activity	IBA	molecular function
GO:0015701	bicarbonate transport	IBA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0005452	inorganic anion exchanger activity	IEA	molecular function
GO:0006820	anion transport	IEA	biological process
GO:0008509	anion transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0015297	antiporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:2000302	positive regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0051453	regulation of intracellular pH	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray