ATP8B4 (ATPase phospholipid transporting 8B4 (putative))

2014-06-01   Dessen P  

Identity

HGNC
ATP8B4
LOCATION
15q21.2
LOCUSID
79895
ALIAS
ATPIM
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
306641792019Expression profiles and potential functions of circular RNAs in extracellular vesicles isolated from radioresistant glioma cells.41
306641792019Expression profiles and potential functions of circular RNAs in extracellular vesicles isolated from radioresistant glioma cells.41
281419152017Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort.6
281419152017Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort.6
264736212016Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.17
264736212016Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
179984372008Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.226
179984372008Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.226

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-(atpase-phospholipid-transporting-8b4-(putative))