• Gene id: 6508

Gene Summary

• Gene Symbol: SLC4A3   Gene   UCSC   Ensembl
• Aliases: AE3, CAE3/BAE3, SLC2C
• Gene name: solute carrier family 4 member 3
• Alternate names: anion exchange protein 3, Anion exchanger 3, neuronal, anion exchanger 3 cardiac isoform, cardiac/brain band 3-like protein, neuronal band 3-like protein, solute carrier family 4 (anion exchanger), member 3,
• Gene location: 2q35 (219627569: 219641979)     Exons: 24     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]

Protein Summary

• Protein general information: P48751  
  • Name: Anion exchange protein 3 (AE 3) (Anion exchanger 3) (CAE3/BAE3) (Cardiac/brain band 3 like protein) (Neuronal band 3 like protein) (Solute carrier family 4 member 3)
  • Length: 1232  
  • Mass: 135791
  • Tissue specificity: Both BAE3 and CAE3 are expressed in failing ventricle.
• Sequence:

  MANGVIPPPGGASPLPQVRVPLEEPPLSPDVEEEDDDLGKTLAVSRFGDLISKPPAWDPEKPSRSYSERDFEFHR
  HTSHHTHHPLSARLPPPHKLRRLPPTSARHTRRKRKKEKTSAPPSEGTPPIQEEGGAGVDEEEEEEEEEEGESEA
  EPVEPPHSGTPQKAKFSIGSDEDDSPGLPGRAAVTKPLPSVGPHTDKSPQHSSSSPSPRARASRLAGEKSRPWSP
  SASYDLRERLCPGSALGNPGGPEQQVPTDEAEAQMLGSADLDDMKSHRLEDNPGVRRHLVKKPSRTQGGRGSPSG
  LAPILRRKKKKKKLDRRPHEVFVELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELR
  RTIAHGAALLDLEQTTLPGIAHLVVETMIVSDQIRPEDRASVLRTLLLKHSHPNDDKDSGFFPRNPSSSSMNSVL
  GNHHPTPSHGPDGAVPTMADDLGEPAPLWPHDPDAKEKPLHMPGGDGHRGKSLKLLEKIPEDAEATVVLVGCVPF
  LEQPAAAFVRLNEAVLLESVLEVPVPVRFLFVMLGPSHTSTDYHELGRSIATLMSDKLFHEAAYQADDRQDLLSA
  ISEFLDGSIVIPPSEVEGRDLLRSVAAFQRELLRKRREREQTKVEMTTRGGYTAPGKELSLELGGSEATPEDDPL
  LRTGSVFGGLVRDVRRRYPHYPSDLRDALHSQCVAAVLFIYFAALSPAITFGGLLGEKTEGLMGVSELIVSTAVL
  GVLFSLLGAQPLLVVGFSGPLLVFEEAFFKFCRAQDLEYLTGRVWVGLWLVVFVLALVAAEGSFLVRYISPFTQE
  IFAFLISLIFIYETFYKLYKVFTEHPLLPFYPPEGALEGSLDAGLEPNGSALPPTEGPPSPRNQPNTALLSLILM
  LGTFFIAFFLRKFRNSRFLGGKARRIIGDFGIPISILVMVLVDYSITDTYTQKLTVPTGLSVTSPDKRSWFIPPL
  GSARPFPPWMMVAAAVPALLVLILIFMETQITALIVSQKARRLLKGSGFHLDLLLIGSLGGLCGLFGLPWLTAAT
  VRSVTHVNALTVMRTAIAPGDKPQIQEVREQRVTGVLIASLVGLSIVMGAVLRRIPLAVLFGIFLYMGVTSLSGI
  QLSQRLLLILMPAKHHPEQPYVTKVKTWRMHLFTCIQLGCIALLWVVKSTAASLAFPFLLLLTVPLRHCLLPRLF
  QDRELQALDSEDAEPNFDEDGQDEYNELHMPV

• Structural information:
  • Interpro: IPR001717  IPR002979  IPR018241  IPR013769  IPR011531   IPR003020  IPR016152  
  • Prosite: PS00219 PS00220
  • STRING: ENSP00000273063
• Other Databases: GeneCards:  SLC4A3  Malacards:  SLC4A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015106	bicarbonate transmembrane transporter activity	IMP	molecular function
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0061337	cardiac conduction	IMP	biological process
GO:0009897	external side of plasma membrane	IMP	cellular component
GO:0015701	bicarbonate transport	IMP	biological process
GO:0086001	cardiac muscle cell action potential	ISS	biological process
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:0015297	antiporter activity	IEA	molecular function
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005452	inorganic anion exchanger activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0051453	regulation of intracellular pH	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq