ATP1B2 (ATPase Na+/K+ transporting subunit beta 2) - Rat Genome Database

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Gene: ATP1B2 (ATPase Na+/K+ transporting subunit beta 2) Homo sapiens
Analyze
Symbol: ATP1B2
Name: ATPase Na+/K+ transporting subunit beta 2
RGD ID: 736555
HGNC Page HGNC
Description: Enables ATPase activator activity; ATPase binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including cellular monovalent inorganic cation homeostasis; ion transmembrane transport; and positive regulation of cation transmembrane transport. Located in apical plasma membrane; astrocyte projection; and lateral plasma membrane. Part of sodium:potassium-exchanging ATPase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adhesion molecule in glia; adhesion molecule on glia; AMOG; ATPase, Na+/K+ transporting, beta 2 polypeptide; Na, K-ATPase beta-2 polypeptide; sodium pump subunit beta-2; sodium-potassium ATPase subunit beta 2 (non-catalytic); sodium/potassium-dependent ATPase beta-2 subunit; sodium/potassium-dependent ATPase subunit beta-2; sodium/potassium-transporting ATPase beta-2 chain; sodium/potassium-transporting ATPase subunit beta-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,646,627 - 7,657,770 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,646,627 - 7,657,770 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,549,945 - 7,561,088 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,494,979 - 7,501,814 (+)NCBINCBI36hg18NCBI36
Build 34177,494,978 - 7,501,814NCBI
Celera177,580,634 - 7,587,472 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,448,147 - 7,454,987 (+)NCBIHuRef
CHM1_1177,563,405 - 7,570,244 (+)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

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
aldosterone signaling pathway  (IEA)
alfentanil pharmacodynamics pathway  (EXP)
amiloride pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
bendroflumethiazide pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bile acid transport pathway  (IEA)
bisoprolol pharmacodynamics pathway  (EXP)
bumetanide pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
chlorothiazide pharmacodynamics pathway  (EXP)
chlorthalidone pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
cystinuria pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
eplerenone pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
etacrynic acid pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
furosemide pharmacodynamics pathway  (EXP)
Hartnup disease pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrochlorothiazide pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydroflumethiazide pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
iminoglycinuria pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
lactose degradation pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
lysinuric protein intolerance pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
metolazone pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
spironolactone pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
torasemide pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
trehalose degradation pathway  (EXP)
triamterene pharmacodynamics pathway  (EXP)
trichlormethiazide pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

Additional References at PubMed
PMID:1688561   PMID:1699290   PMID:2158121   PMID:2538450   PMID:7711835   PMID:8305453   PMID:8889548   PMID:8918259   PMID:9159180   PMID:9524271   PMID:10636900   PMID:10662545  
PMID:11027149   PMID:11193188   PMID:12477932   PMID:12539047   PMID:12558975   PMID:12887597   PMID:12958655   PMID:15071553   PMID:15294280   PMID:15489334   PMID:16344560   PMID:16430714  
PMID:16865689   PMID:17411440   PMID:17683073   PMID:18676680   PMID:19170196   PMID:19371356   PMID:19542013   PMID:19625176   PMID:19683723   PMID:19692168   PMID:19764716   PMID:20065300  
PMID:20656459   PMID:20937802   PMID:21196491   PMID:21873635   PMID:22157746   PMID:22675492   PMID:23887941   PMID:24815991   PMID:25129146   PMID:26186194   PMID:26344197   PMID:28514442  
PMID:29715546   PMID:30280653   PMID:31510944  


Genomics

Comparative Map Data
ATP1B2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,646,627 - 7,657,770 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,646,627 - 7,657,770 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,549,945 - 7,561,088 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,494,979 - 7,501,814 (+)NCBINCBI36hg18NCBI36
Build 34177,494,978 - 7,501,814NCBI
Celera177,580,634 - 7,587,472 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,448,147 - 7,454,987 (+)NCBIHuRef
CHM1_1177,563,405 - 7,570,244 (+)NCBICHM1_1
Atp1b2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,490,554 - 69,496,786 (-)NCBIGRCm39mm39
GRCm39 Ensembl1169,490,562 - 69,496,768 (-)Ensembl
GRCm381169,599,728 - 69,605,978 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,599,736 - 69,605,942 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,413,252 - 69,419,462 (-)NCBIGRCm37mm9NCBIm37
MGSCv361169,415,948 - 69,422,024 (-)NCBImm8
Celera1176,563,216 - 76,569,425 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.86NCBI
Atp1b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21054,318,698 - 54,324,933 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1054,318,701 - 54,324,933 (-)Ensembl
Rnor_6.01056,205,622 - 56,211,879 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,205,625 - 56,211,891 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01055,951,260 - 55,957,510 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,418,323 - 56,424,465 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11056,431,946 - 56,438,088 (-)NCBI
Celera1053,472,960 - 53,479,196 (-)NCBICelera
Cytogenetic Map10q24NCBI
Atp1b2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,261,775 - 9,268,743 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,261,775 - 9,268,743 (-)NCBIChiLan1.0ChiLan1.0
ATP1B2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1177,669,997 - 7,675,730 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,669,626 - 7,673,834 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0177,681,831 - 7,688,710 (+)NCBIMhudiblu_PPA_v0panPan3
ATP1B2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,548,591 - 32,553,911 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,549,167 - 32,553,504 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,687,510 - 32,694,048 (+)NCBI
ROS_Cfam_1.0532,653,348 - 32,659,884 (+)NCBI
UMICH_Zoey_3.1532,621,044 - 32,627,582 (+)NCBI
UNSW_CanFamBas_1.0532,577,297 - 32,583,829 (+)NCBI
UU_Cfam_GSD_1.0532,756,419 - 32,762,956 (+)NCBI
Atp1b2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,433,820 - 47,440,238 (+)NCBI
SpeTri2.0NW_004936595908,019 - 914,426 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP1B2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,925,693 - 52,932,637 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,925,697 - 52,932,638 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21255,241,662 - 55,248,610 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP1B2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,030,016 - 7,035,620 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl167,030,055 - 7,037,754 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605914,373,302 - 14,379,044 (-)NCBIVero_WHO_p1.0
Atp1b2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478610,254,979 - 10,261,508 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
G15933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,559,427 - 7,559,644UniSTSGRCh37
Build 36177,500,152 - 7,500,369RGDNCBI36
Celera177,585,809 - 7,586,026RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,453,322 - 7,453,540UniSTS
SGC31498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,559,235 - 7,559,444UniSTSGRCh37
Build 36177,499,960 - 7,500,169RGDNCBI36
Celera177,585,617 - 7,585,826RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,453,130 - 7,453,339UniSTS
GeneMap99-GB4 RH Map1748.53UniSTS
Whitehead-RH Map1784.3UniSTS
RH11458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,560,492 - 7,560,673UniSTSGRCh37
Build 36177,501,217 - 7,501,398RGDNCBI36
Celera177,586,875 - 7,587,056RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,454,390 - 7,454,571UniSTS
GeneMap99-GB4 RH Map1746.65UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1717
Count of miRNA genes:806
Interacting mature miRNAs:900
Transcripts:ENST00000250111, ENST00000577026, ENST00000577113
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
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 pharyngeal arch
High 1 18 1
Medium 949 328 755 19 129 20 1222 526 3596 137 836 499 4 1 480 724 1
Low 1365 2307 933 578 1057 415 3083 1646 92 226 530 966 163 721 2057 2 2
Below cutoff 117 356 36 27 690 30 49 25 27 51 91 137 6 3 7 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL120033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL532023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY946017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG708115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM664502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM703745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM925700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ718053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD671350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA122526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA199365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U45945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000250111   ⟹   ENSP00000250111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,650,926 - 7,657,770 (+)Ensembl
RefSeq Acc Id: ENST00000577026   ⟹   ENSP00000459145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,646,627 - 7,655,768 (+)Ensembl
RefSeq Acc Id: ENST00000577113   ⟹   ENSP00000460499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,654,109 - 7,655,934 (+)Ensembl
RefSeq Acc Id: NM_001303263   ⟹   NP_001290192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,646,627 - 7,657,770 (+)NCBI
CHM1_1177,559,105 - 7,570,244 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001678   ⟹   NP_001669
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,650,926 - 7,657,770 (+)NCBI
GRCh37177,554,254 - 7,561,089 (+)ENTREZGENE
Build 36177,494,979 - 7,501,814 (+)NCBI Archive
HuRef177,448,147 - 7,454,987 (+)ENTREZGENE
CHM1_1177,563,359 - 7,570,244 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001669   ⟸   NM_001678
- Peptide Label: isoform 1
- UniProtKB: P14415 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290192   ⟸   NM_001303263
- Peptide Label: isoform 2
- UniProtKB: P14415 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000460499   ⟸   ENST00000577113
RefSeq Acc Id: ENSP00000459145   ⟸   ENST00000577026
RefSeq Acc Id: ENSP00000250111   ⟸   ENST00000250111

Promoters
RGD ID:6793756
Promoter ID:HG_KWN:24904
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:NM_001678
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,494,736 - 7,495,236 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1
pathogenic
NM_001678.4(ATP1B2):c.205C>T (p.His69Tyr) single nucleotide variant Malignant melanoma [RCV000071696] Chr17:7653466 [GRCh38]
Chr17:7556784 [GRCh37]
Chr17:7497509 [NCBI36]
Chr17:17p13.1
not provided
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1
likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3 copy number gain See cases [RCV000139519] Chr17:7544902..7670581 [GRCh38]
Chr17:7448219..7573899 [GRCh37]
Chr17:7388943..7514624 [NCBI36]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626434] Chr17:7603519..7768486 [GRCh38]
Chr17:7506837..7671804 [GRCh37]
Chr17:17p13.1
drug response
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable agammaglobulinemia [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:805 AgrOrtholog
COSMIC ATP1B2 COSMIC
Ensembl Genes ENSG00000129244 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000250111 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000459145 UniProtKB/TrEMBL
  ENSP00000460499 UniProtKB/TrEMBL
Ensembl Transcript ENST00000250111 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000577026 UniProtKB/TrEMBL
  ENST00000577113 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129244 GTEx
HGNC ID HGNC:805 ENTREZGENE
Human Proteome Map ATP1B2 Human Proteome Map
InterPro Na/K_ATPase_sub_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/K_ATPase_sub_beta_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:482 UniProtKB/Swiss-Prot
NCBI Gene 482 ENTREZGENE
OMIM 182331 OMIM
PANTHER PTHR11523 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_K-ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA67 PharmGKB
PROSITE ATPASE_NA_K_BETA_1 UniProtKB/Swiss-Prot
  ATPASE_NA_K_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs Na_K_ATPase_bet UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AT1B2_HUMAN UniProtKB/Swiss-Prot
  I3L1V9_HUMAN UniProtKB/TrEMBL
  I3L3J8_HUMAN UniProtKB/TrEMBL
  P14415 ENTREZGENE
  Q58I19_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0AV17 UniProtKB/Swiss-Prot
  A8K278 UniProtKB/Swiss-Prot
  D3DTQ2 UniProtKB/Swiss-Prot
  O60444 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP1B2  ATPase Na+/K+ transporting subunit beta 2    ATPase, Na+/K+ transporting, beta 2 polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-17 ATP1B2  ATPase, Na+/K+ transporting, beta 2 polypeptide  ATP1B2  ATPase, Na+/K+ transporting, beta 2 polypeptide  Symbol and/or name change 5135510 APPROVED