FXYD4 - FXYD domain containing ion transport regulator 4 Gene

Homo sapiens

Also known as CHIF

Gene ID: 53828 | Gene type: protein coding

About FXYD4

Cytogenetic location: 10q11.21 Genomic coordinates (GRCh38): 10:43,371,636-43,376,335 (from NCBI)

This gene has 4 transcripts (splice variants), 79 orthologues and 6 paralogues. Restricted expression toward kidney (RPKM 55.0).

Summary

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. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]

FXYD4 Products(2)

mRNA	Protein	Name
NM_001184963.1	NP_001171892.1	FXYD domain-containing ion transport regulator 4 precursor
NM_173160.3	NP_775183.1	FXYD domain-containing ion transport regulator 4 precursor

FXYD4 Protein Structure

ATP1G1_PLM_MAT8

0
89 a.a.

Protein Preferred Names

Protein Names

FXYD domain-containing ion transport regulator 4

channel-inducing factor

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 33

DFNB33	Autosomal Recessive Nonsyndromic Deafness 33
Autosomal Recessive Deafness 33

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-RS05168	FXYD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FXYD4	VGNC	VGNC:106051
Canis familiaris	FXYD4	VGNC	VGNC:41022
Rattus norvegicus	FXYD4	RGD	RGD:70998
Mus musculus	FXYD4	MGD	MGI:1889005
Bos taurus	FXYD4	VGNC	VGNC:106749

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