• Gene id: 9497

Gene Summary

• Gene Symbol: SLC4A7   Gene   UCSC   Ensembl
• Aliases: NBC2, NBC3, NBCN1, SBC2, SLC4A6
• Gene name: solute carrier family 4 member 7
• Alternate names: sodium bicarbonate cotransporter 3, bicarbonate transporter, electroneutral Na/HCO(3) cotransporter, sodium bicarbonate cotransporter 2, sodium bicarbonate cotransporter 2b, solute carrier family 4, sodium bicarbonate cotransporter, member 7,
• Gene location: 3p24.1 (17600301: 17611714)     Exons: 5     NC_000006.12
• Gene summary(Entrez): This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical r
• OMIM: 603353

Protein Summary

• Protein general information: Q9Y6M7  
  • Name: Sodium bicarbonate cotransporter 3 (Electroneutral Na/HCO(3) cotransporter) (Sodium bicarbonate cotransporter 2) (Sodium bicarbonate cotransporter 2b) (Bicarbonate transporter) (Solute carrier family 4 member 7)
  • Length: 1214  
  • Mass: 136044
  • Tissue specificity: Highly expressed in testis and spleen. Also expressed in retina, colon, small intestine, ovary, thymus, prostate, muscle, heart and kidney. Isoform 1 is expressed in skeletal muscle and heart muscle. {ECO
• Sequence:

  MERFRLEKKLPGPDEEAVVDLGKTSSTVNTKFEKEELESHRAVYIGVHVPFSKESRRRHRHRGHKHHHRRRKDKE
  SDKEDGRESPSYDTPSQRVQFILGTEDDDEEHIPHDLFTEMDELCYRDGEEYEWKETARWLKFEEDVEDGGDRWS
  KPYVATLSLHSLFELRSCILNGTVMLDMRASTLDEIADMVLDNMIASGQLDESIRENVREALLKRHHHQNEKRFT
  SRIPLVRSFADIGKKHSDPHLLERNGEGLSASRHSLRTGLSASNLSLRGESPLSLLLGHLLPSSRAGTPAGSRCT
  TPVPTPQNSPPSSPSISRLTSRSSQESQRQAPELLVSPASDDIPTVVIHPPEEDLEAALKGEEQKNEENVDLTPG
  ILASPQSAPGNLDNSKSGEIKGNGSGGSRENSTVDFSKVDMNFMRKIPTGAEASNVLVGEVDFLERPIIAFVRLA
  PAVLLTGLTEVPVPTRFLFLLLGPAGKAPQYHEIGRSIATLMTDEIFHDVAYKAKDRNDLLSGIDEFLDQVTVLP
  PGEWDPSIRIEPPKSVPSQEKRKIPVFHNGSTPTLGETPKEAAHHAGPELQRTGRLFGGLILDIKRKAPFFLSDF
  KDALSLQCLASILFLYCACMSPVITFGGLLGEATEGRISAIESLFGASLTGIAYSLFAGQPLTILGSTGPVLVFE
  KILYKFCRDYQLSYLSLRTSIGLWTSFLCIVLVATDASSLVCYITRFTEEAFAALICIIFIYEALEKLFDLGETY
  AFNMHNNLDKLTSYSCVCTEPPNPSNETLAQWKKDNITAHNISWRNLTVSECKKLRGVFLGSACGHHGPYIPDVL
  FWCVILFFTTFFLSSFLKQFKTKRYFPTKVRSTISDFAVFLTIVIMVTIDYLVGVPSPKLHVPEKFEPTHPERGW
  IISPLGDNPWWTLLIAAIPALLCTILIFMDQQITAVIINRKEHKLKKGAGYHLDLLMVGVMLGVCSVMGLPWFVA
  ATVLSISHVNSLKVESECSAPGEQPKFLGIREQRVTGLMIFILMGLSVFMTSVLKFIPMPVLYGVFLYMGVSSLK
  GIQLFDRIKLFGMPAKHQPDLIYLRYVPLWKVHIFTVIQLTCLVLLWVIKVSAAAVVFPMMVLALVFVRKLMDLC
  FTKRELSWLDDLMPESKKKKEDDKKKKEKEEAERMLQDDDDTVHLPFEGGSLLQIPVKALKYSPDKPVSVKISFE
  DEPRKKYVDAETSL

• Structural information:
  • Interpro: IPR013769  IPR011531  IPR003020  IPR016152  
  • STRING: ENSP00000295736
• Other Databases: GeneCards:  SLC4A7  Malacards:  SLC4A7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0060117	auditory receptor cell development	IBA	biological process
GO:0008510	sodium:bicarbonate symporter activity	IBA	molecular function
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0015701	bicarbonate transport	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:0042995	cell projection	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0008510	sodium:bicarbonate symporter activity	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0015701	bicarbonate transport	NAS	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray