ATP8B4 (ATPase phospholipid transporting 8B4 (putative))

2014-06-01  

Identity

HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
ATPIM
FUSION GENES

Other Information

Locus ID:

NCBI: 79895
MIM: 609123
HGNC: 13536
Ensembl: ENSG00000104043

Variants:

dbSNP: 79895
ClinVar: 79895
TCGA: ENSG00000104043
COSMIC: ATP8B4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104043ENST00000284509Q8TF62
ENSG00000104043ENST00000557955H0YMP8
ENSG00000104043ENST00000558024H0YLC1
ENSG00000104043ENST00000558458H0YM66
ENSG00000104043ENST00000558829H0YMB5
ENSG00000104043ENST00000558906H0YLJ1
ENSG00000104043ENST00000559726H0YLJ1
ENSG00000104043ENST00000559829Q8TF62

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179984372008Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.189
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
264736212016Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.12
306641792019Expression profiles and potential functions of circular RNAs in extracellular vesicles isolated from radioresistant glioma cells.11
281419152017Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort.2

Citation

Dessen P

ATP8B4 (ATPase phospholipid transporting 8B4 (putative))

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53939/atp8b4