• Gene id: 5349

Gene Summary

• Gene Symbol: FXYD3   Gene   UCSC   Ensembl
• Aliases: MAT8, PLML
• Gene name: FXYD domain containing ion transport regulator 3
• Alternate names: FXYD domain-containing ion transport regulator 3, chloride conductance inducer protein Mat-8, mammary tumor 8 kDa protein, phospholemman-like protein, sodium/potassium-transporting ATPase subunit FXYD3,
• Gene location: 19q13.12 (35115817: 35124323)     Exons: 10     NC_000019.10
• Gene summary(Entrez): This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene e
• OMIM: 604996

SNPs

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

Protein Summary

• Protein general information: Q14802  
  • Name: FXYD domain containing ion transport regulator 3 (Chloride conductance inducer protein Mat 8) (Mammary tumor 8 kDa protein) (Phospholemman like) (Sodium/potassium transporting ATPase subunit FXYD3)
  • Length: 87  
  • Mass: 9263
  • Tissue specificity: Isoform 1
• Sequence:

  MQKVTLGLLVFLAGFPVLDANDLEDKNSPFYYDWHSLQVGGLICAGVLCAMGIIIVMSAKCKCKFGQKSGHHPGE
  TPPLITPGSAQS

• Structural information:
  • Interpro: IPR000272  
  • Prosite: PS01310
  • STRING: ENSP00000473929
• Other Databases: GeneCards:  FXYD3  Malacards:  FXYD3

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:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006821	chloride transport	TAS	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:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
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)