1. Gene
  2. FXYD6 - FXYD domain containing ion transport regulator 6 Gene

FXYD6 - FXYD domain containing ion transport regulator 6 Gene

Homo sapiens
Gene ID: 53826 | Gene type: protein coding

About FXYD6

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,836,981-117,877,430 (from NCBI)

This gene has 17 transcripts (splice variants), 152 orthologues and 6 paralogues. Broad expression in brain (RPKM 186.7), ovary (RPKM 91.7) and 16 other tissues.

Summary

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]

FXYD6 Products(5)

mRNA Protein Name
NM_001164831.3 NP_001158303.1 FXYD domain-containing ion transport regulator 6 precursor
NM_001164832.3 NP_001158304.1 FXYD domain-containing ion transport regulator 6 precursor
NM_001164836.3 NP_001158308.1 FXYD domain-containing ion transport regulator 6 precursor
NM_001164837.3 NP_001158309.1 FXYD domain-containing ion transport regulator 6 precursor
NM_022003.4 NP_071286.1 FXYD domain-containing ion transport regulator 6 precursor

FXYD6 Protein Structure

ATP1G1_PLM_MAT8

ATP1G1_PLM_MAT8: ATP1G1/PLM/MAT8 family (24 - 72)

  • 0
  • 95 a.a.
Protein Preferred Names Protein Names

FXYD domain-containing ion transport regulator 6

phosphohippolin

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

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FXYD6 RGD RGD:69315
Mus musculus FXYD6 MGD MGI:1890226
Bos taurus FXYD6 VGNC VGNC:54871
Canis familiaris FXYD6 VGNC VGNC:56011