ATP8A2 (ATPase phospholipid transporting 8A2)

2003-05-01  

Identity

HGNC
ATP8A2
LOCATION
13q12.13
LOCUSID
51761
ALIAS
ATP,ATPIB,CAMRQ4,IB,ML-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51761
MIM: 605870
HGNC: 13533
Ensembl: ENSG00000132932

Variants:

dbSNP: 51761
ClinVar: 51761
TCGA: ENSG00000132932
COSMIC: ATP8A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132932ENST00000255283F8VRS1
ENSG00000132932ENST00000281620F8W9B3
ENSG00000132932ENST00000381655Q9NTI2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
376784952024On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4.3
384360852024Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.3
376784952024On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4.3
384360852024Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.3
353219802022Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.3
353219802022Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.3
335652212021Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.3
336821242021Congenital ataxia due to novel variant in ATP8A2.2
335652212021Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.3
336821242021Congenital ataxia due to novel variant in ATP8A2.2
316123212020ATP8A2-related disorders as recessive cerebellar ataxia.7
316123212020ATP8A2-related disorders as recessive cerebellar ataxia.7
313715102019Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic.11
313975192019Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.7
313715102019Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic.11

Citation

Dessen P

ATP8A2 (ATPase phospholipid transporting 8A2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/727/gene-explorer/case-report-explorer/case-report-explorer/