Gene: ATP11B

Alternate names for this Gene: ATPIF|ATPIR

Gene Summary: P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.242189.1, SRR1803613.136294.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000323116.10/ ENSP00000321195.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 3

Location in Chromosome : 3q26.33

Description of this Gene: ATPase phospholipid transporting 11B (putative)

Type of Gene: protein-coding

rs9283650 in ATP11B gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12696498 in ATP11B gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12696498 in ATP11B gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.