2. Gene
  3. FXYD7 - FXYD domain containing ion transport regulator 7 Gene

FXYD7 - FXYD domain containing ion transport regulator 7 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 53822 | Gene type: protein coding

About FXYD7

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,143,255-35,154,302 (from NCBI)

This gene has 4 transcripts (splice variants), 39 orthologues and 6 paralogues. Biased expression in brain (RPKM 25.1) and spleen (RPKM 0.7).

Summary

This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. 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 for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that Enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]

FXYD7 Products(1)

mRNA Protein Name
NM_022006.2 NP_071289.1 FXYD domain-containing ion transport regulator 7
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FXYD7 Protein Structure

ATP1G1_PLM_MAT8

ATP1G1_PLM_MAT8: ATP1G1/PLM/MAT8 family (13 - 59)

  • 0
  • 80 a.a.
Protein Preferred Names Protein Names

FXYD domain-containing ion transport regulator 7

Related Diseases

Diseases Alias
Hypomagnesemia 2, Renal

Renal Hypomagnesemia 2

HOMG2

Magnesium Wasting, Renal

Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

Magnesium Loss, Isolated Renal

Isolated Autosomal Dominant Hypomagnesemia

Isolated Renal Magnesium Wasting

Renal Hypomagnesemia Type 2

Hypomagnesemia 2

Dominant Renal Hypomagnesemia

Hypomagnesemia With Hypocalciuria

Isolated Renal Magnesium Loss

Renal Magnesium Wasting

Hypomagnesemia-2, Renal

Renal Hypomagnesemia, Dominant

Hypomagnesemia, Type 2, Renal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05171 FXYD7 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FXYD7 RGD RGD:620830
Macaca mulatta FXYD7 VGNC VGNC:107106
Bos taurus FXYD7 VGNC VGNC:29159
Mus musculus FXYD7 MGD MGI:1889006