• Gene id: 53828

Gene Summary

• Gene Symbol: FXYD4   Gene   UCSC   Ensembl
• Aliases: CHIF
• Gene name: FXYD domain containing ion transport regulator 4
• Alternate names: FXYD domain-containing ion transport regulator 4, channel-inducing factor,
• Gene location: 10q11.21 (43371635: 43376334)     Exons: 9     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature f
• OMIM: 616926

Protein Summary

• Protein general information: P59646  
  • Name: FXYD domain containing ion transport regulator 4
  • Length: 89  
  • Mass: 9373
• Sequence:

  MERVTLALLLLAGLTALEANDPFANKDDPFYYDWKNLQLSGLICGGLLAIAGIAAVLSGKCKCKSSQKQHSPVPE
  KAIPLITPGSATTC

• Structural information:
  • Interpro: IPR000272  
  • Prosite: PS01310
  • STRING: ENSP00000483791
• Other Databases: GeneCards:  FXYD4  Malacards:  FXYD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000649	regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0017080	sodium channel regulator activity	IBA	molecular function
GO:0043269	regulation of ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0099106	ion channel regulator activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0015672	monovalent inorganic cation transport	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0051117	ATPase binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray