ATP8A2 (ATPase phospholipid transporting 8A2) - Rat Genome Database

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Gene: ATP8A2 (ATPase phospholipid transporting 8A2) Homo sapiens
Analyze
Symbol: ATP8A2
Name: ATPase phospholipid transporting 8A2
RGD ID: 1344629
HGNC Page HGNC
Description: Exhibits ATPase activity. Predicted to be involved in aminophospholipid translocation and neuron projection development. Localizes to Golgi apparatus; nucleoplasm; and plasma membrane. Implicated in cerebellar ataxia, mental retardation and dysequlibrium syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP; ATPase class I type 8A member 2; ATPase, aminophospholipid transporter, class I, type 8A, member 2; ATPase, aminophospholipid transporter-like, class I, type 8A, member 2; ATPIB; CAMRQ4; DKFZp434B1913; IB; ML-1; P4-ATPase flippase complex alpha subunit ATP8A2; phospholipid-transporting ATPase IB; probable phospholipid-transporting ATPase IB
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ATP8A2P1   ATP8A2P2   ATP8A2P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1325,371,974 - 26,025,851 (+)EnsemblGRCh38hg38GRCh38
GRCh381325,371,974 - 26,025,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371325,946,112 - 26,599,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361324,844,209 - 25,493,420 (+)NCBINCBI36hg18NCBI36
Build 341324,941,114 - 25,492,996NCBI
Celera137,010,413 - 7,663,625 (+)NCBI
Cytogenetic Map13q12.13NCBI
HuRef136,857,229 - 7,413,507 (+)NCBIHuRef
CHM1_11325,914,386 - 26,563,571 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10551800   PMID:11015572   PMID:12477932   PMID:14702039   PMID:15057823   PMID:16344560   PMID:17621610   PMID:19778899   PMID:20379614   PMID:20683487   PMID:20889312   PMID:20947505  
PMID:21454556   PMID:21873635   PMID:22892528   PMID:23568457   PMID:23579954   PMID:24077738   PMID:26240149   PMID:26344197   PMID:27679995   PMID:31371510   PMID:31397519   PMID:31586073  
PMID:31612321  


Genomics

Comparative Map Data
ATP8A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1325,371,974 - 26,025,851 (+)EnsemblGRCh38hg38GRCh38
GRCh381325,371,974 - 26,025,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371325,946,112 - 26,599,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361324,844,209 - 25,493,420 (+)NCBINCBI36hg18NCBI36
Build 341324,941,114 - 25,492,996NCBI
Celera137,010,413 - 7,663,625 (+)NCBI
Cytogenetic Map13q12.13NCBI
HuRef136,857,229 - 7,413,507 (+)NCBIHuRef
CHM1_11325,914,386 - 26,563,571 (+)NCBICHM1_1
Atp8a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391459,884,980 - 60,324,363 (-)NCBIGRCm39mm39
GRCm39 Ensembl1459,875,989 - 60,434,628 (-)Ensembl
GRCm381459,647,531 - 60,086,914 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1459,638,540 - 60,197,179 (-)EnsemblGRCm38mm10GRCm38
MGSCv371460,266,578 - 60,705,671 (-)NCBIGRCm37mm9NCBIm37
Celera1457,450,161 - 57,876,764 (-)NCBICelera
Cytogenetic Map14C3- D1NCBI
Atp8a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21533,817,309 - 34,350,193 (-)NCBI
Rnor_6.0 Ensembl1540,000,322 - 40,428,800 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01539,955,689 - 40,488,737 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01543,781,312 - 44,300,886 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41538,759,902 - 39,271,237 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1533,526,116 - 34,051,833 (-)NCBICelera
Cytogenetic Map15p12NCBI
ATP8A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11325,111,454 - 25,668,526 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1325,111,653 - 25,662,668 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0136,663,888 - 7,319,094 (+)NCBIMhudiblu_PPA_v0panPan3
ATP8A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12513,490,550 - 14,066,942 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2513,495,970 - 14,066,513 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2513,563,109 - 14,143,498 (-)NCBI
ROS_Cfam_1.02513,628,570 - 14,196,913 (-)NCBI
UMICH_Zoey_3.12513,511,708 - 14,079,496 (-)NCBI
UNSW_CanFamBas_1.02513,507,713 - 14,081,688 (-)NCBI
UU_Cfam_GSD_1.02513,555,345 - 14,129,847 (-)NCBI
LOC101972040
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945115,687,558 - 116,313,133 (-)NCBI
SpeTri2.0NW_004936688299,831 - 925,444 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100523747
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl113,278,071 - 3,793,881 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1113,277,395 - 3,793,881 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2112,576,600 - 2,969,328 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP8A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.134,747,744 - 5,378,598 (+)NCBI
ChlSab1.1 Ensembl34,747,882 - 5,323,235 (+)Ensembl
Vero_WHO_p1.0NW_02366605739,047,880 - 39,695,138 (-)NCBI
Atp8a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477612,474,442 - 13,126,237 (-)NCBI

Position Markers
D13S221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,576,866 - 26,577,100UniSTSGRCh37
GRCh371326,576,938 - 26,577,054UniSTSGRCh37
Build 361325,474,938 - 25,475,054RGDNCBI36
Celera137,645,142 - 7,645,256RGD
Celera137,645,070 - 7,645,302UniSTS
Cytogenetic Map13q12UniSTS
HuRef137,395,016 - 7,395,140UniSTS
HuRef137,394,944 - 7,395,186UniSTS
Marshfield Genetic Map1312.91RGD
Genethon Genetic Map1314.6UniSTS
TNG Radiation Hybrid Map134031.0UniSTS
deCODE Assembly Map1316.26UniSTS
Stanford-G3 RH Map13198.0UniSTS
GeneMap99-GB4 RH Map1371.46UniSTS
Whitehead-RH Map1354.5UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13186.7UniSTS
GeneMap99-G3 RH Map13194.0UniSTS
D13S1294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,476,909 - 26,477,159UniSTSGRCh37
Build 361325,374,909 - 25,375,159RGDNCBI36
Celera137,545,121 - 7,545,371RGD
Cytogenetic Map13q12UniSTS
HuRef137,294,963 - 7,295,213UniSTS
Marshfield Genetic Map1312.91UniSTS
Marshfield Genetic Map1312.91RGD
Genethon Genetic Map1314.7UniSTS
Stanford-G3 RH Map13164.0UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13182.1UniSTS
GeneMap99-G3 RH Map13160.0UniSTS
D13S1285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,365,553 - 26,365,751UniSTSGRCh37
Build 361325,263,553 - 25,263,751RGDNCBI36
Celera137,429,799 - 7,430,003RGD
Cytogenetic Map13q12UniSTS
HuRef137,179,580 - 7,179,780UniSTS
Marshfield Genetic Map1312.91RGD
Marshfield Genetic Map1312.91UniSTS
Genethon Genetic Map1314.5UniSTS
Whitehead-YAC Contig Map13 UniSTS
WI-14969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,282,578 - 26,282,727UniSTSGRCh37
Build 361325,180,578 - 25,180,727RGDNCBI36
Celera137,346,809 - 7,346,958RGD
Cytogenetic Map13q12UniSTS
HuRef137,096,197 - 7,096,346UniSTS
GeneMap99-GB4 RH Map1369.25UniSTS
Whitehead-RH Map1353.4UniSTS
NCBI RH Map1310.0UniSTS
D13S1191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371325,991,238 - 25,991,374UniSTSGRCh37
Build 361324,889,238 - 24,889,374RGDNCBI36
Celera137,055,509 - 7,055,645RGD
Cytogenetic Map13q12UniSTS
HuRef136,805,279 - 6,805,415UniSTS
Whitehead-RH Map1353.8UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map1310.0UniSTS
WI-14830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,598,452 - 26,598,552UniSTSGRCh37
Build 361325,496,452 - 25,496,552RGDNCBI36
Celera137,666,657 - 7,666,757RGD
Cytogenetic Map13q12UniSTS
HuRef137,416,539 - 7,416,639UniSTS
GeneMap99-GB4 RH Map1368.16UniSTS
Whitehead-RH Map1347.1UniSTS
NCBI RH Map1310.0UniSTS
SHGC-82790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371325,957,869 - 25,958,152UniSTSGRCh37
Build 361324,855,869 - 24,856,152RGDNCBI36
Celera137,022,074 - 7,022,357RGD
Cytogenetic Map13q12UniSTS
HuRef136,771,891 - 6,772,174UniSTS
TNG Radiation Hybrid Map133734.0UniSTS
SHGC-84149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,153,777 - 26,154,048UniSTSGRCh37
Build 361325,051,777 - 25,052,048RGDNCBI36
Celera137,217,969 - 7,218,240RGD
Cytogenetic Map13q12UniSTS
HuRef136,967,319 - 6,967,590UniSTS
TNG Radiation Hybrid Map133779.0UniSTS
RH121640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,596,002 - 26,596,350UniSTSGRCh37
Build 361325,494,002 - 25,494,350RGDNCBI36
Celera137,664,207 - 7,664,555RGD
Cytogenetic Map13q12UniSTS
HuRef137,414,089 - 7,414,437UniSTS
TNG Radiation Hybrid Map134125.0UniSTS
RH123137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,076,501 - 26,076,798UniSTSGRCh37
Build 361324,974,501 - 24,974,798RGDNCBI36
Celera137,140,829 - 7,141,126RGD
Cytogenetic Map13q12UniSTS
HuRef136,890,453 - 6,890,750UniSTS
TNG Radiation Hybrid Map133757.0UniSTS
D13S182E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,456,994 - 26,457,149UniSTSGRCh37
Build 361325,354,994 - 25,355,149RGDNCBI36
Celera137,525,188 - 7,525,349RGD
Cytogenetic Map13q12UniSTS
HuRef137,275,043 - 7,275,204UniSTS
D13S308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,457,003 - 26,457,149UniSTSGRCh37
Build 361325,355,003 - 25,355,149RGDNCBI36
Celera137,525,197 - 7,525,349RGD
Cytogenetic Map13q12UniSTS
HuRef137,275,052 - 7,275,204UniSTS
D13S1035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,564,496 - 26,564,649UniSTSGRCh37
Build 361325,462,496 - 25,462,649RGDNCBI36
Celera137,632,696 - 7,632,849RGD
Cytogenetic Map13q12UniSTS
HuRef137,382,572 - 7,382,725UniSTS
D13S1055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,308,514 - 26,308,682UniSTSGRCh37
Build 361325,206,514 - 25,206,682RGDNCBI36
Celera137,372,744 - 7,372,912RGD
Cytogenetic Map13q12UniSTS
HuRef137,122,118 - 7,122,286UniSTS
D13S1126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,379,019 - 26,379,175UniSTSGRCh37
Build 361325,277,019 - 25,277,175RGDNCBI36
Celera137,443,261 - 7,443,417RGD
Cytogenetic Map13q12UniSTS
HuRef137,193,050 - 7,193,206UniSTS
G64210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,588,832 - 26,589,043UniSTSGRCh37
Build 361325,486,832 - 25,487,043RGDNCBI36
Celera137,657,037 - 7,657,248RGD
Cytogenetic Map13q12UniSTS
HuRef137,406,919 - 7,407,130UniSTS
SHGC-112580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,319,863 - 26,320,178UniSTSGRCh37
Build 361325,217,863 - 25,218,178RGDNCBI36
Celera137,384,091 - 7,384,406RGD
Cytogenetic Map13q12UniSTS
HuRef137,133,461 - 7,133,776UniSTS
TNG Radiation Hybrid Map133880.0UniSTS
SHGC-146587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,509,474 - 26,509,822UniSTSGRCh37
Build 361325,407,474 - 25,407,822RGDNCBI36
Celera137,577,669 - 7,578,017RGD
Cytogenetic Map13q12UniSTS
HuRef137,327,513 - 7,327,861UniSTS
TNG Radiation Hybrid Map134108.0UniSTS
SHGC-150884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,476,847 - 26,477,151UniSTSGRCh37
Build 361325,374,847 - 25,375,151RGDNCBI36
Celera137,545,059 - 7,545,363RGD
Cytogenetic Map13q12UniSTS
HuRef137,294,901 - 7,295,205UniSTS
TNG Radiation Hybrid Map134091.0UniSTS
SHGC-151273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,365,781 - 26,365,882UniSTSGRCh37
Build 361325,263,781 - 25,263,882RGDNCBI36
Celera137,430,033 - 7,430,134RGD
Cytogenetic Map13q12UniSTS
HuRef137,179,810 - 7,179,911UniSTS
TNG Radiation Hybrid Map133926.0UniSTS
TNG Radiation Hybrid Map1339215.0UniSTS
SHGC-153606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,476,274 - 26,476,551UniSTSGRCh37
Build 361325,374,274 - 25,374,551RGDNCBI36
Celera137,544,486 - 7,544,763RGD
Cytogenetic Map13q12UniSTS
HuRef137,294,328 - 7,294,605UniSTS
TNG Radiation Hybrid Map134098.0UniSTS
WI-12595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,599,085 - 26,599,221UniSTSGRCh37
Build 361325,497,085 - 25,497,221RGDNCBI36
Celera137,667,290 - 7,667,426RGD
Cytogenetic Map13q12UniSTS
HuRef137,417,172 - 7,417,308UniSTS
GeneMap99-GB4 RH Map1373.15UniSTS
Whitehead-RH Map1354.2UniSTS
NCBI RH Map1310.0UniSTS
STS-Z41450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,599,091 - 26,599,172UniSTSGRCh37
Build 361325,497,091 - 25,497,172RGDNCBI36
Celera137,667,296 - 7,667,377RGD
Cytogenetic Map13q12UniSTS
HuRef137,417,178 - 7,417,259UniSTS
GeneMap99-GB4 RH Map1373.07UniSTS
NCBI RH Map1310.0UniSTS
D13S809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,549,038 - 26,549,242UniSTSGRCh37
Build 361325,447,038 - 25,447,242RGDNCBI36
Celera137,617,236 - 7,617,440RGD
Cytogenetic Map13q12UniSTS
HuRef137,367,112 - 7,367,316UniSTS
Whitehead-YAC Contig Map13 UniSTS
G54675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,224,374 - 26,224,547UniSTSGRCh37
Celera137,288,616 - 7,288,789UniSTS
Cytogenetic Map13q12UniSTS
HuRef137,037,957 - 7,038,130UniSTS
SHGC-152561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371326,365,681 - 26,365,878UniSTSGRCh37
GRCh371326,365,667 - 26,365,878UniSTSGRCh37
GRCh371326,365,669 - 26,365,878UniSTSGRCh37
GRCh371326,365,691 - 26,365,878UniSTSGRCh37
Celera137,429,913 - 7,430,130UniSTS
Celera137,429,927 - 7,430,130UniSTS
Celera137,429,921 - 7,430,130UniSTS
Celera137,429,943 - 7,430,130UniSTS
Cytogenetic Map13q12UniSTS
HuRef137,179,698 - 7,179,907UniSTS
HuRef137,179,720 - 7,179,907UniSTS
HuRef137,179,706 - 7,179,907UniSTS
HuRef137,179,694 - 7,179,907UniSTS
TNG Radiation Hybrid Map1010905.0UniSTS
D13S221  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q12UniSTS
Marshfield Genetic Map1312.91UniSTS
Genethon Genetic Map1314.6UniSTS
deCODE Assembly Map1316.26UniSTS
GeneMap99-GB4 RH Map1371.46UniSTS
Whitehead-RH Map1354.5UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map1310.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3471
Count of miRNA genes:1278
Interacting mature miRNAs:1657
Transcripts:ENST00000255283, ENST00000281620, ENST00000381648, ENST00000381655, ENST00000491840
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 259 1 12 1 12 4 1277 13 131 35
Low 980 143 315 21 265 23 635 191 1977 180 512 597 6 1 25 315 4
Below cutoff 1360 2688 956 416 1251 256 3580 1954 457 201 739 897 164 1179 2363

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001313741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC206479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF236871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX823716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP396213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA326706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY026915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000255283   ⟹   ENSP00000255283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,469,021 - 26,020,287 (+)Ensembl
RefSeq Acc Id: ENST00000281620   ⟹   ENSP00000281620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,468,979 - 26,020,206 (+)Ensembl
RefSeq Acc Id: ENST00000381648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,468,977 - 25,534,225 (+)Ensembl
RefSeq Acc Id: ENST00000381655   ⟹   ENSP00000371070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,371,974 - 26,025,851 (+)Ensembl
RefSeq Acc Id: ENST00000491840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,567,133 - 25,927,283 (+)Ensembl
RefSeq Acc Id: ENST00000682472   ⟹   ENSP00000508103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,372,213 - 26,025,111 (+)Ensembl
RefSeq Acc Id: ENST00000682580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,468,813 - 25,551,451 (+)Ensembl
RefSeq Acc Id: ENST00000682942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,492,947 - 26,025,111 (+)Ensembl
RefSeq Acc Id: ENST00000682943   ⟹   ENSP00000507323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,372,057 - 25,862,785 (+)Ensembl
RefSeq Acc Id: ENST00000683303   ⟹   ENSP00000508339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,372,213 - 25,962,019 (+)Ensembl
RefSeq Acc Id: ENST00000683455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,543,254 - 25,582,890 (+)Ensembl
RefSeq Acc Id: ENST00000683461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,827,936 - 25,842,653 (+)Ensembl
RefSeq Acc Id: ENST00000683845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,492,948 - 25,963,377 (+)Ensembl
RefSeq Acc Id: ENST00000683868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1326,009,971 - 26,025,102 (+)Ensembl
RefSeq Acc Id: ENST00000683945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,489,527 - 26,025,111 (+)Ensembl
RefSeq Acc Id: ENST00000683960   ⟹   ENSP00000506846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,372,072 - 26,025,851 (+)Ensembl
RefSeq Acc Id: ENST00000684025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,468,836 - 25,709,919 (+)Ensembl
RefSeq Acc Id: ENST00000684283   ⟹   ENSP00000507994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,372,049 - 25,962,006 (+)Ensembl
RefSeq Acc Id: ENST00000684424   ⟹   ENSP00000507489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,468,838 - 26,025,111 (+)Ensembl
RefSeq Acc Id: ENST00000684551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1325,543,341 - 25,591,259 (+)Ensembl
RefSeq Acc Id: NM_001313741   ⟹   NP_001300670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,468,774 - 26,025,851 (+)NCBI
CHM1_11326,011,033 - 26,568,138 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016529   ⟹   NP_057613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,371,974 - 26,025,851 (+)NCBI
GRCh371325,946,209 - 26,599,989 (+)NCBI
Build 361324,844,209 - 25,493,420 (+)NCBI Archive
Celera137,010,413 - 7,663,625 (+)RGD
HuRef136,857,229 - 7,413,507 (+)RGD
CHM1_11325,914,326 - 26,568,138 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266419   ⟹   XP_005266476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,468,809 - 26,025,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535103   ⟹   XP_011533405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,372,011 - 26,025,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535104   ⟹   XP_011533406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,469,055 - 26,025,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535106   ⟹   XP_011533408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,372,011 - 25,927,268 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535107   ⟹   XP_011533409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,372,011 - 25,869,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535109   ⟹   XP_011533411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,487,661 - 26,025,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535113   ⟹   XP_011533415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,372,011 - 25,705,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020625   ⟹   XP_016876114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,372,011 - 25,624,354 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020626   ⟹   XP_016876115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,372,011 - 25,661,319 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449369   ⟹   XP_024305137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,534,501 - 26,025,851 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001300670 (Get FASTA)   NCBI Sequence Viewer  
  NP_057613 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266476 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533405 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533406 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533408 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533409 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533411 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533415 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876114 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876115 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305137 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF40215 (Get FASTA)   NCBI Sequence Viewer  
  BAC04396 (Get FASTA)   NCBI Sequence Viewer  
  BAC86402 (Get FASTA)   NCBI Sequence Viewer  
  BAC86905 (Get FASTA)   NCBI Sequence Viewer  
  BAH13866 (Get FASTA)   NCBI Sequence Viewer  
  CAB70658 (Get FASTA)   NCBI Sequence Viewer  
  CAB99084 (Get FASTA)   NCBI Sequence Viewer  
  CAD97848 (Get FASTA)   NCBI Sequence Viewer  
  CAE84542 (Get FASTA)   NCBI Sequence Viewer  
  EAX08372 (Get FASTA)   NCBI Sequence Viewer  
  EAX08373 (Get FASTA)   NCBI Sequence Viewer  
  EAX08374 (Get FASTA)   NCBI Sequence Viewer  
  EAX08375 (Get FASTA)   NCBI Sequence Viewer  
  EAX08376 (Get FASTA)   NCBI Sequence Viewer  
  Q9NTI2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_057613   ⟸   NM_016529
- Peptide Label: isoform 1
- UniProtKB: Q9NTI2 (UniProtKB/Swiss-Prot),   Q6ZSP3 (UniProtKB/TrEMBL),   Q6ZU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266476   ⟸   XM_005266419
- Peptide Label: isoform X2
- UniProtKB: Q9NTI2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533405   ⟸   XM_011535103
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011533408   ⟸   XM_011535106
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011533409   ⟸   XM_011535107
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011533415   ⟸   XM_011535113
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011533406   ⟸   XM_011535104
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011533411   ⟸   XM_011535109
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001300670   ⟸   NM_001313741
- Peptide Label: isoform 2
- UniProtKB: Q9NTI2 (UniProtKB/Swiss-Prot),   B7Z880 (UniProtKB/TrEMBL),   Q6ZSP3 (UniProtKB/TrEMBL),   Q6ZU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876115   ⟸   XM_017020626
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016876114   ⟸   XM_017020625
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_024305137   ⟸   XM_024449369
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000255283   ⟸   ENST00000255283
RefSeq Acc Id: ENSP00000281620   ⟸   ENST00000281620
RefSeq Acc Id: ENSP00000371070   ⟸   ENST00000381655
RefSeq Acc Id: ENSP00000506846   ⟸   ENST00000683960
RefSeq Acc Id: ENSP00000507489   ⟸   ENST00000684424
RefSeq Acc Id: ENSP00000507323   ⟸   ENST00000682943
RefSeq Acc Id: ENSP00000508339   ⟸   ENST00000683303
RefSeq Acc Id: ENSP00000507994   ⟸   ENST00000684283
RefSeq Acc Id: ENSP00000508103   ⟸   ENST00000682472
Protein Domains
PhoLip_ATPase_C   PhoLip_ATPase_N

Promoters
RGD ID:7226063
Promoter ID:EPDNEW_H18777
Type:initiation region
Name:ATP8A2_1
Description:ATPase phospholipid transporting 8A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381325,371,974 - 25,372,034EPDNEW
RGD ID:6810471
Promoter ID:HG_ACW:20199
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   Lymphoblastoid
Transcripts:ATP8A2.FAPR07,   ATP8A2.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361325,484,379 - 25,484,879 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000043652] Chr13:25553863 [GRCh38]
Chr13:26128001 [GRCh37]
Chr13:13q12.13
pathogenic
GRCh38/hg38 13q12.13(chr13:25779197-25998883)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051889]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051889]|See cases [RCV000051889] Chr13:25779197..25998883 [GRCh38]
Chr13:26248721..26573021 [GRCh37]
Chr13:25146721..25471021 [NCBI36]
Chr13:13q12.13
uncertain significance
GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3 copy number gain See cases [RCV000051985] Chr13:24635449..25592788 [GRCh38]
Chr13:25209587..26166926 [GRCh37]
Chr13:24107587..25064926 [NCBI36]
Chr13:13q12.12-12.13
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
NM_016529.4(ATP8A2):c.3334C>T (p.Arg1112Ter) single nucleotide variant Malignant melanoma [RCV000070328] Chr13:25968636 [GRCh38]
Chr13:26542774 [GRCh37]
Chr13:25440774 [NCBI36]
Chr13:13q12.13
not provided
NM_016529.4(ATP8A2):c.2679G>A (p.Glu893=) single nucleotide variant Malignant melanoma [RCV000062651] Chr13:25774959 [GRCh38]
Chr13:26349097 [GRCh37]
Chr13:25247097 [NCBI36]
Chr13:13q12.13
not provided
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000660469] Chr13:25469058 [GRCh38]
Chr13:26043196 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.76+14314C>T single nucleotide variant Lung cancer [RCV000097796] Chr13:25386602 [GRCh38]
Chr13:25960740 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.77-36336A>G single nucleotide variant Lung cancer [RCV000097797] Chr13:25432641 [GRCh38]
Chr13:26006779 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.779+11C>A single nucleotide variant Lung cancer [RCV000097798] Chr13:25542057 [GRCh38]
Chr13:26116195 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.2212-39184G>T single nucleotide variant Lung cancer [RCV000097799] Chr13:25659989 [GRCh38]
Chr13:26234127 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.2212-30904C>G single nucleotide variant Lung cancer [RCV000097800] Chr13:25668269 [GRCh38]
Chr13:26242407 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.2384+29212A>T single nucleotide variant Lung cancer [RCV000097801] Chr13:25728557 [GRCh38]
Chr13:26302695 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.4(ATP8A2):c.2956+4531G>T single nucleotide variant Lung cancer [RCV000097802] Chr13:25844155 [GRCh38]
Chr13:26418293 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) single nucleotide variant not specified [RCV000116457] Chr13:25469044 [GRCh38]
Chr13:26043182 [GRCh37]
Chr13:13q12.13
benign|likely benign
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) single nucleotide variant not specified [RCV000116458] Chr13:25574828 [GRCh38]
Chr13:26148966 [GRCh37]
Chr13:13q12.13
benign|likely benign
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) single nucleotide variant not specified [RCV000116459] Chr13:25699247 [GRCh38]
Chr13:26273385 [GRCh37]
Chr13:13q12.13
benign|likely benign
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.13(chr13:25410920-25605325)x3 copy number gain See cases [RCV000137299] Chr13:25410920..25605325 [GRCh38]
Chr13:25985058..26179463 [GRCh37]
Chr13:24883058..25077463 [NCBI36]
Chr13:13q12.13
uncertain significance
GRCh38/hg38 13q12.13(chr13:25605266-25805785)x1 copy number loss See cases [RCV000137932] Chr13:25605266..25805785 [GRCh38]
Chr13:26179404..26379923 [GRCh37]
Chr13:25077404..25277923 [NCBI36]
Chr13:13q12.13
uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) single nucleotide variant not provided [RCV000418598]|not specified [RCV000202917] Chr13:25860860 [GRCh38]
Chr13:26434998 [GRCh37]
Chr13:13q12.13
likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.13(chr13:26248721-26359860)x1 copy number loss See cases [RCV000139045] Chr13:26248721..26359860 [GRCh37]
Chr13:25146721..25257860 [NCBI36]
Chr13:13q12.13
uncertain significance
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.13(chr13:25779197-26026902)x0 copy number loss See cases [RCV000140920] Chr13:25779197..26026902 [GRCh38]
Chr13:26244330..26601040 [GRCh37]
Chr13:25142330..25499040 [NCBI36]
Chr13:13q12.13
uncertain significance
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
pathogenic
GRCh37/hg19 13q12.13(chr13:26284166-26428005)x1 copy number loss See cases [RCV000142039] Chr13:26284166..26428005 [GRCh37]
Chr13:25182166..25326005 [NCBI36]
Chr13:13q12.13
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr) single nucleotide variant not provided [RCV000484087]|not specified [RCV000202650] Chr13:25469045 [GRCh38]
Chr13:26043183 [GRCh37]
Chr13:13q12.13
likely pathogenic|uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_016529.6(ATP8A2):c.1872G>T (p.Leu624Phe) single nucleotide variant not specified [RCV000194756] Chr13:25579812 [GRCh38]
Chr13:26153950 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_016529.6(ATP8A2):c.76+10G>A single nucleotide variant not provided [RCV000514617] Chr13:25372298 [GRCh38]
Chr13:25946436 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1782+2T>C single nucleotide variant not provided [RCV000490033] Chr13:25577140 [GRCh38]
Chr13:26151278 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.857T>C (p.Val286Ala) single nucleotide variant not provided [RCV000522049] Chr13:25543368 [GRCh38]
Chr13:26117506 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000655951] Chr13:25828127 [GRCh38]
Chr13:26402265 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1883G>A (p.Cys628Tyr) single nucleotide variant Epilepsy [RCV000414852] Chr13:25579823 [GRCh38]
Chr13:26153961 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) single nucleotide variant not provided [RCV000443031] Chr13:25699239 [GRCh38]
Chr13:26273377 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.3324A>C (p.Glu1108Asp) single nucleotide variant not provided [RCV000438321] Chr13:25968626 [GRCh38]
Chr13:26542764 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_016529.6(ATP8A2):c.1286A>T (p.Lys429Met) single nucleotide variant not provided [RCV000425151] Chr13:25558995 [GRCh38]
Chr13:26133133 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1787del (p.Asn596fs) deletion not provided [RCV000480922] Chr13:25578818 [GRCh38]
Chr13:26152956 [GRCh37]
Chr13:13q12.13
pathogenic
NM_016529.6(ATP8A2):c.3104T>C (p.Met1035Thr) single nucleotide variant not provided [RCV000484260] Chr13:25862329 [GRCh38]
Chr13:26436467 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.424C>T (p.Arg142Ter) single nucleotide variant not provided [RCV000482805] Chr13:25532275 [GRCh38]
Chr13:26106413 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.321+3_321+8del deletion not provided [RCV000484789] Chr13:25530098..25530103 [GRCh38]
Chr13:26104236..26104241 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr) single nucleotide variant not provided [RCV000486844] Chr13:25699254 [GRCh38]
Chr13:26273392 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.2568+1G>A single nucleotide variant not provided [RCV000498945] Chr13:25769230 [GRCh38]
Chr13:26343368 [GRCh37]
Chr13:13q12.13
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 copy number loss See cases [RCV000511657] Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13
likely pathogenic
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) single nucleotide variant not provided [RCV000494399] Chr13:25577112 [GRCh38]
Chr13:26151250 [GRCh37]
Chr13:13q12.13
pathogenic|likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss PARP Inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2
drug response
NM_016529.6(ATP8A2):c.1398-13T>G single nucleotide variant not provided [RCV000514520] Chr13:25563943 [GRCh38]
Chr13:26138081 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000625793] Chr13:25699294 [GRCh38]
Chr13:26273432 [GRCh37]
Chr13:13q12.13
likely pathogenic|uncertain significance
NM_016529.6(ATP8A2):c.3075+19T>C single nucleotide variant not provided [RCV000514870] Chr13:25860879 [GRCh38]
Chr13:26435017 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) duplication Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000988969]|Inborn genetic diseases [RCV000624070] Chr13:25577115..25577116 [GRCh38]
Chr13:26151253..26151254 [GRCh37]
Chr13:13q12.13
pathogenic|likely pathogenic
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000662154] Chr13:26012592 [GRCh38]
Chr13:26586730 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.13(chr13:26445034-26510336)x1 copy number loss not provided [RCV000683484] Chr13:26445034..26510336 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.13(chr13:26192118-26282054)x1 copy number loss not provided [RCV000750676] Chr13:26192118..26282054 [GRCh37]
Chr13:13q12.13
benign
GRCh37/hg19 13q12.13(chr13:26246272-26267518)x1 copy number loss not provided [RCV000750677] Chr13:26246272..26267518 [GRCh37]
Chr13:13q12.13
benign
NM_016529.6(ATP8A2):c.2007+9A>G single nucleotide variant not provided [RCV000894077] Chr13:25579956 [GRCh38]
Chr13:26154094 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.1349A>G (p.Tyr450Cys) single nucleotide variant not provided [RCV000761854] Chr13:25559058 [GRCh38]
Chr13:26133196 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000984487] Chr13:25579857 [GRCh38]
Chr13:26153995 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.222-4dup duplication not provided [RCV000995048] Chr13:25529994..25529995 [GRCh38]
Chr13:26104132..26104133 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1427G>T (p.Cys476Phe) single nucleotide variant not provided [RCV000995049] Chr13:25563985 [GRCh38]
Chr13:26138123 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.2449_2451del (p.Leu817del) deletion not specified [RCV000780940] Chr13:25769109..25769111 [GRCh38]
Chr13:26343247..26343249 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1713-7C>T single nucleotide variant not provided [RCV000951306] Chr13:25577062 [GRCh38]
Chr13:26151200 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.3270A>G (p.Arg1090=) single nucleotide variant not provided [RCV000983686] Chr13:25961661 [GRCh38]
Chr13:26535799 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.1380G>A (p.Pro460=) single nucleotide variant not provided [RCV000973944] Chr13:25559748 [GRCh38]
Chr13:26133886 [GRCh37]
Chr13:13q12.13
benign
NM_016529.6(ATP8A2):c.1782+9C>T single nucleotide variant not provided [RCV000969279] Chr13:25577147 [GRCh38]
Chr13:26151285 [GRCh37]
Chr13:13q12.13
benign
GRCh37/hg19 13q12.13(chr13:26075181-26200618)x3 copy number gain not provided [RCV000845763] Chr13:26075181..26200618 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) deletion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000988970] Chr13:25774935 [GRCh38]
Chr13:26349073 [GRCh37]
Chr13:13q12.13
pathogenic
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000985123] Chr13:25828187 [GRCh38]
Chr13:26402325 [GRCh37]
Chr13:13q12.13
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13
pathogenic
NM_016529.6(ATP8A2):c.1058-2A>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001197115] Chr13:25553791 [GRCh38]
Chr13:26127929 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) deletion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001195731] Chr13:25469110 [GRCh38]
Chr13:26043248 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV000985122] Chr13:25577097 [GRCh38]
Chr13:26151235 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.3363T>C (p.Asp1121=) single nucleotide variant not provided [RCV000886873] Chr13:25968665 [GRCh38]
Chr13:26542803 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.1203T>C (p.Tyr401=) single nucleotide variant not provided [RCV000981229] Chr13:25555008 [GRCh38]
Chr13:26129146 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.1295C>T (p.Thr432Met) single nucleotide variant not specified [RCV001194043] Chr13:25559004 [GRCh38]
Chr13:26133142 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.3183+1G>A single nucleotide variant Dysequilibrium syndrome [RCV001034613] Chr13:25862409 [GRCh38]
Chr13:26436547 [GRCh37]
Chr13:13q12.13
pathogenic
NM_016529.6(ATP8A2):c.1663A>G (p.Met555Val) single nucleotide variant not provided [RCV000995050] Chr13:25574808 [GRCh38]
Chr13:26148946 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His) single nucleotide variant not provided [RCV001200359] Chr13:25564027 [GRCh38]
Chr13:26138165 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001250918] Chr13:25559021 [GRCh38]
Chr13:26133159 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001250917] Chr13:25769134 [GRCh38]
Chr13:26343272 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) deletion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001254119] Chr13:25541951..25541961 [GRCh38]
Chr13:26116089..26116099 [GRCh37]
Chr13:13q12.13
pathogenic
NM_016529.6(ATP8A2):c.1868-2A>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001250920] Chr13:25579806 [GRCh38]
Chr13:26153944 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.2840A>G (p.Tyr947Cys) single nucleotide variant Inborn genetic diseases [RCV001267346] Chr13:25837248 [GRCh38]
Chr13:26411386 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3
likely pathogenic
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001287509] Chr13:25589657 [GRCh38]
Chr13:26163795 [GRCh37]
Chr13:13q12.13
likely benign
NM_016529.6(ATP8A2):c.779+2T>A single nucleotide variant not provided [RCV001268893] Chr13:25542048 [GRCh38]
Chr13:26116186 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.77-2A>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001336352] Chr13:25468975 [GRCh38]
Chr13:26043113 [GRCh37]
Chr13:13q12.13
pathogenic
NM_016529.6(ATP8A2):c.3469+1G>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001330941] Chr13:26012623 [GRCh38]
Chr13:26586761 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001291767] Chr13:25839564 [GRCh38]
Chr13:26413702 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001330940] Chr13:25589646 [GRCh38]
Chr13:26163784 [GRCh37]
Chr13:13q12.13
likely pathogenic
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [RCV001330942] Chr13:25542010 [GRCh38]
Chr13:26116148 [GRCh37]
Chr13:13q12.13
uncertain significance
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr) single nucleotide variant not provided [RCV001310678] Chr13:25581949 [GRCh38]
Chr13:26156087 [GRCh37]
Chr13:13q12.13
uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13533 AgrOrtholog
COSMIC ATP8A2 COSMIC
Ensembl Genes ENSG00000132932 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000255283 UniProtKB/TrEMBL
  ENSP00000281620 UniProtKB/TrEMBL
  ENSP00000371070 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000506846 ENTREZGENE
  ENSP00000507489 ENTREZGENE
  ENSP00000508103 ENTREZGENE
Ensembl Transcript ENST00000255283 UniProtKB/TrEMBL
  ENST00000281620 UniProtKB/TrEMBL
  ENST00000381655 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000682472 ENTREZGENE
  ENST00000683960 ENTREZGENE
  ENST00000684424 ENTREZGENE
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132932 GTEx
HGNC ID HGNC:13533 ENTREZGENE
Human Proteome Map ATP8A2 Human Proteome Map
InterPro ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51761 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51761 ENTREZGENE
OMIM 605870 OMIM
  615268 OMIM
PANTHER PTHR24092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PhoLip_ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PhoLip_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25166 PharmGKB
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ATPase-Plipid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AT8A2_HUMAN UniProtKB/Swiss-Prot
  B7Z880 ENTREZGENE, UniProtKB/TrEMBL
  F8VRS1_HUMAN UniProtKB/TrEMBL
  F8W9B3_HUMAN UniProtKB/TrEMBL
  Q6ZSP3 ENTREZGENE
  Q6ZU25 ENTREZGENE, UniProtKB/TrEMBL
  Q9NTI2 ENTREZGENE
UniProt Secondary Q6ZSP3 UniProtKB/Swiss-Prot
  Q9H527 UniProtKB/Swiss-Prot
  Q9NPU6 UniProtKB/Swiss-Prot
  Q9NTL2 UniProtKB/Swiss-Prot
  Q9NYM3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP8A2  ATPase phospholipid transporting 8A2    ATPase, aminophospholipid transporter, class I, type 8A, member 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 ATP8A2  ATPase, aminophospholipid transporter, class I, type 8A, member 2  ATP8A2  ATPase, aminophospholipid transporter-like, class I, type 8A, member 2  Symbol and/or name change 5135510 APPROVED