• Gene id: 123041

Gene Summary

• Gene Symbol: SLC24A4   Gene   UCSC   Ensembl
• Aliases: AI2A5, NCKX4, SHEP6, SLC24A2
• Gene name: solute carrier family 24 member 4
• Alternate names: sodium/potassium/calcium exchanger 4, Na(+)/K(+)/Ca(2+)-exchange protein 4, solute carrier family 24 (sodium/potassium/calcium exchanger), member 4,
• Gene location: 14q32.12 (92322580: 92501480)     Exons: 24     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
• OMIM: 609840

Protein Summary

• Protein general information: Q8NFF2  
  • Name: Sodium/potassium/calcium exchanger 4 (Na(+)/K(+)/Ca(2+) exchange protein 4) (Solute carrier family 24 member 4)
  • Length: 622  
  • Mass: 69042
  • Tissue specificity: Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.
• Sequence:

  MALRGTLRPLKVRRRREMLPQQVGFVCAVLALVCCASGLFGSLGHKTASASKRVLPDTWRNRKLMAPVNGTQTAK
  NCTDPAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSS
  TPELFASVIGVFITHGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVRLTWWAVCRDSVYYTISVIVLIVFIYDEQ
  IVWWEGLVLIILYVFYILIMKYNVKMQAFFTVKQKSIANGNPVNSELEAGNDFYDGSYDDPSVPLLGQVKEKPQY
  GKNPVVMVDEIMSSSPPKFTFPEAGLRIMITNKFGPRTRLRMASRIIINERQRLINSANGVSSKPLQNGRHENIE
  NGNVPVENPEDPQQNQEQQPPPQPPPPEPEPVEADFLSPFSVPEARGDKVKWVFTWPLIFLLCVTIPNCSKPRWE
  KFFMVTFITATLWIAVFSYIMVWLVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGLGDMAVSNTIGS
  NVFDILVGLGVPWGLQTMVVNYGSTVKINSRGLVYSVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLC
  FSIMIEFNVFTFVNLPMCREDD

• Structural information:
  • Interpro: IPR004481  IPR004837  IPR030232  
  • STRING: ENSP00000431840
• Other Databases: GeneCards:  SLC24A4  Malacards:  SLC24A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006874	cellular calcium ion homeostasis	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0008273	calcium, potassium:sodium antiporter activity	IDA	molecular function
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0044214	spanning component of plasma membrane	RCA	cellular component
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005262	calcium channel activity	IBA	molecular function
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	IBA	molecular function
GO:0007608	sensory perception of smell	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0097186	amelogenesis	ISS	biological process
GO:0007608	sensory perception of smell	ISS	biological process
GO:0016020	membrane	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0008273	calcium, potassium:sodium antiporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0007608	sensory perception of smell	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	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

KEGG pathways

Pathway id	Pathway name
hsa04740	Olfactory transduction

Diseases

Associated diseases	References
Amelogenesis imperfecta	KEGG:H00615
Amelogenesis imperfecta	KEGG:H00615
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq