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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebellar ataxia, mental retardation and dysequlibrium syndrome | | ISO | RGD:1344629 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cerebellar ataxia, mental retardation and dysequlibrium syndrome | | ISO | RGD:1344629 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | P4-ATPase ATP8A2 acts in synergy with CDC50A to enhance neurite outgrowth. | Xu Q, etal., FEBS Lett. 2012 Jun 21;586(13):1803-12. doi: 10.1016/j.febslet.2012.05.018. Epub 2012 May 26. |
Atp8a2 (Rattus norvegicus - Norway rat) |
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ATP8A2 (Homo sapiens - human) |
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Atp8a2 (Mus musculus - house mouse) |
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ATP8A2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ATP8A2 (Canis lupus familiaris - dog) |
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LOC101972040 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC100523747 (Sus scrofa - pig) |
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ATP8A2 (Chlorocebus sabaeus - green monkey) |
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Atp8a2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Atp8a2
2482 total Variants ![]() |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D15Got23 |
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D15Rat87 |
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RH144321 |
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BI277866 |
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BQ210369 |
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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 | appendage | |
High | |||||||||||||
Medium | 58 | 7 | |||||||||||
Low | 3 | 26 | 50 | 34 | 18 | 34 | 1 | 1 | 14 | 24 | 20 | 7 | 1 |
Below cutoff | 14 | 5 | 5 | 1 | 5 | 7 | 8 | 2 | 11 | 14 | 3 | 7 |
RefSeq Transcripts | XM_003751492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_003752815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006221968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006221970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006221972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006252160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006252164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006252165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008769169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008769177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008770789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008770790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039093999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039094000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039094001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039094002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039094003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039094004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039094005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC126002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JACYVU010000270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000011451 ⟹ ENSRNOP00000011451 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000099280 ⟹ ENSRNOP00000080718 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000101476 ⟹ ENSRNOP00000083020 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000115632 ⟹ ENSRNOP00000092049 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000116305 ⟹ ENSRNOP00000095034 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000117449 ⟹ ENSRNOP00000097212 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000120113 ⟹ ENSRNOP00000087237 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003751492 ⟹ XP_003751540 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039093993 ⟹ XP_038949921 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039093994 ⟹ XP_038949922 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039093995 ⟹ XP_038949923 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039093996 ⟹ XP_038949924 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039093997 ⟹ XP_038949925 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039093998 ⟹ XP_038949926 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039093999 ⟹ XP_038949927 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039094000 ⟹ XP_038949928 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039094001 ⟹ XP_038949929 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039094002 ⟹ XP_038949930 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039094003 ⟹ XP_038949931 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039094004 ⟹ XP_038949932 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039094005 ⟹ XP_038949933 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_003751540 | (Get FASTA) | NCBI Sequence Viewer |
XP_038949921 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949922 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949923 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949924 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949925 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949926 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949927 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949928 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949929 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949930 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949931 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949932 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038949933 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | XP_003751540 ⟸ XM_003751492 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000011451 ⟸ ENSRNOT00000011451 |
RefSeq Acc Id: | XP_038949927 ⟸ XM_039093999 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949924 ⟸ XM_039093996 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949925 ⟸ XM_039093997 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949930 ⟸ XM_039094002 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949931 ⟸ XM_039094003 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038949921 ⟸ XM_039093993 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6A3Z6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038949926 ⟸ XM_039093998 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949922 ⟸ XM_039093994 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038949928 ⟸ XM_039094000 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949923 ⟸ XM_039093995 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038949929 ⟸ XM_039094001 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038949932 ⟸ XM_039094004 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038949933 ⟸ XM_039094005 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | ENSRNOP00000097212 ⟸ ENSRNOT00000117449 |
RefSeq Acc Id: | ENSRNOP00000095034 ⟸ ENSRNOT00000116305 |
RefSeq Acc Id: | ENSRNOP00000083020 ⟸ ENSRNOT00000101476 |
RefSeq Acc Id: | ENSRNOP00000087237 ⟸ ENSRNOT00000120113 |
RefSeq Acc Id: | ENSRNOP00000080718 ⟸ ENSRNOT00000099280 |
RefSeq Acc Id: | ENSRNOP00000092049 ⟸ ENSRNOT00000115632 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D4A3X6-F1-model_v2 | AlphaFold | D4A3X6 | 1-1169 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1594597 | AgrOrtholog |
BioCyc Gene | G2FUF-13541 | BioCyc |
Ensembl Genes | ENSRNOG00000008053 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000011451 | ENTREZGENE |
ENSRNOP00000011451.7 | UniProtKB/TrEMBL | |
ENSRNOP00000080718 | ENTREZGENE | |
ENSRNOP00000080718.1 | UniProtKB/TrEMBL | |
ENSRNOP00000083020.1 | UniProtKB/TrEMBL | |
ENSRNOP00000087237 | ENTREZGENE | |
ENSRNOP00000087237.1 | UniProtKB/TrEMBL | |
ENSRNOP00000092049 | ENTREZGENE | |
ENSRNOP00000092049.1 | UniProtKB/TrEMBL | |
ENSRNOP00000095034 | ENTREZGENE | |
ENSRNOP00000095034.1 | UniProtKB/TrEMBL | |
ENSRNOP00000097212.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000011451 | ENTREZGENE |
ENSRNOT00000011451.9 | UniProtKB/TrEMBL | |
ENSRNOT00000099280 | ENTREZGENE | |
ENSRNOT00000099280.1 | UniProtKB/TrEMBL | |
ENSRNOT00000101476.1 | UniProtKB/TrEMBL | |
ENSRNOT00000115632 | ENTREZGENE | |
ENSRNOT00000115632.1 | UniProtKB/TrEMBL | |
ENSRNOT00000116305 | ENTREZGENE | |
ENSRNOT00000116305.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117449.1 | UniProtKB/TrEMBL | |
ENSRNOT00000120113 | ENTREZGENE | |
ENSRNOT00000120113.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.1110.10 | UniProtKB/TrEMBL |
3.40.50.1000 | UniProtKB/TrEMBL | |
InterPro | ATPase_P-typ_cyto_domN | UniProtKB/TrEMBL |
ATPase_P-typ_P_site | UniProtKB/TrEMBL | |
ATPase_P-typ_Plipid-transl | UniProtKB/TrEMBL | |
ATPase_P-typ_TM_dom | UniProtKB/TrEMBL | |
ATPase_P-typ_transduc_dom_A | UniProtKB/TrEMBL | |
Cation_transp_P_typ_ATPase | UniProtKB/TrEMBL | |
HAD-like_dom | UniProtKB/TrEMBL | |
HAD-like_sf | UniProtKB/TrEMBL | |
P-type_ATPase_N | UniProtKB/TrEMBL | |
P_typ_ATPase_c | UniProtKB/TrEMBL | |
P_typ_ATPase_HD_dom | UniProtKB/TrEMBL | |
NCBI Gene | 691889 | ENTREZGENE |
Pfam | PhoLip_ATPase_C | UniProtKB/TrEMBL |
PhoLip_ATPase_N | UniProtKB/TrEMBL | |
PhenoGen | Atp8a2 | PhenoGen |
PROSITE | ATPASE_E1_E2 | UniProtKB/TrEMBL |
Superfamily-SCOP | ATPase_cation_domN | UniProtKB/TrEMBL |
HAD-like_dom | UniProtKB/TrEMBL | |
SSF81653 | UniProtKB/TrEMBL | |
SSF81665 | UniProtKB/TrEMBL | |
TIGRFAMs | ATPase-Plipid | UniProtKB/TrEMBL |
ATPase_P-type | UniProtKB/TrEMBL | |
UniProt | A0A8I5ZQP3_RAT | UniProtKB/TrEMBL |
A0A8I5ZW37_RAT | UniProtKB/TrEMBL | |
A0A8I6A3Z6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6AGF0_RAT | UniProtKB/TrEMBL | |
A0A8I6GLF5_RAT | UniProtKB/TrEMBL | |
A0A8I6GMF3_RAT | UniProtKB/TrEMBL | |
D4A3X6_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-17 | Atp8a2 | ATPase phospholipid transporting 8A2 | Atp8a2 | ATPase, aminophospholipid transporter, class I, type 8A, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2014-09-17 | Atp8a2 | ATPase, aminophospholipid transporter, class I, type 8A, member 2 | LOC691889 | similar to ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-01-09 | LOC691889 | similar to ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 | LOC682925 | similar to ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2 | Data Merged | 1643240 | APPROVED |
2006-11-20 | LOC691889 | similar to ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2006-11-20 | LOC682925 | similar to ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |