FXYD6

FXYD6
Identifiers
Aliases	FXYD6, FXYD domain containing ion transport regulator 6
External IDs	OMIM: 606683; MGI: 1890226; GeneCards: FXYD6
Gene location (Human)
Chr.	Chromosome 11 (human)
End	117,877,486 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	45,307,457 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; ganglionic eminence; ; ventricular zone; ; right frontal lobe; ; right hemisphere of cerebellum; ; body of uterus; ; anterior cingulate cortex; ; dorsolateral prefrontal cortex; ; Brodmann area 9; ; orbitofrontal cortex;
	Top expressed in
	extraocular muscle; ; lip; ; vestibular membrane of cochlear duct; ; dentate gyrus of hippocampal formation granule cell; ; sciatic nerve; ; ankle; ; adrenal gland; ; ankle joint; ; utricle; ; digastric muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	ion channel activity; protein binding; sodium channel regulator activity; molecular function; ion channel regulator activity;
Cellular component	integral component of membrane; plasma membrane; membrane; integral component of plasma membrane; glutamatergic synapse; integral component of postsynaptic membrane; integral component of presynaptic membrane;
Biological process	ion transport; regulation of sodium ion transmembrane transporter activity; biological process; ion transmembrane transport; regulation of ion transport; regulation of cardiac conduction;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	53826
	59095
	ENSG00000137726
	ENSMUSG00000066705
	Q9H0Q3
	Q9D164
	NM_022003; NM_001164831; NM_001164832; NM_001164836; NM_001164837
	NM_022004
	NP_001158303; NP_001158304; NP_001158308; NP_001158309; NP_071286
	NP_071287
	Wikidata
View/Edit Human	View/Edit Mouse

FXYD6 (pronounced fix-id six), or FXYD domain-containing ion transport regulator 6, is a gene which is located at the 11q23.3 (chromosome 11 locus 23.3). The FXYD6 protein contains 95 amino acids, and can be found in all human tissues except blood.

This gene belongs to the FXYD family of ion transport regulators

Pathology

According to recent research, mutations in the FXYD6 gene, or in sequences close by this gene, can predispose to the schizophrenia which is known to be strongly heritable.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000137726 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066705 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ ATP1G1/PLM/MAT8 family in PFAM^{[permanent dead link]}
↑ Getting Crowded on Chromosome 11q22—Make Way for Phosphohippolin Archived April 30, 2007, at the Wayback Machine
↑ Choudhury K, McQuillin A, Puri V, et al. (2007). "A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia". Am. J. Hum. Genet. 80 (4): 664–72. doi:10.1086/513475. PMC 1852702. PMID 17357072.

External links

GeneCards page about the gene

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000137726 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066705 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] ATP1G1/PLM/MAT8 family in PFAM^{[permanent dead link]}

[6] Getting Crowded on Chromosome 11q22—Make Way for Phosphohippolin Archived April 30, 2007, at the Wayback Machine

[7] Choudhury K, McQuillin A, Puri V, et al. (2007). "A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia". Am. J. Hum. Genet. 80 (4): 664–72. doi:10.1086/513475. PMC 1852702. PMID 17357072.