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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | RGD:732200 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | RGD:732200 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | ABCA2 is a marker of neural progenitors and neuronal subsets in the adult rodent brain. | Broccardo C, etal., J Neurochem. 2006 Apr;97(2):345-55. Epub 2006 Mar 15. |
2. | The ATP-binding cassette transporter-2 (ABCA2) regulates cholesterol homeostasis and low-density lipoprotein receptor metabolism in N2a neuroblastoma cells. | Davis W, Biochim Biophys Acta. 2011 Dec;1811(12):1152-64. doi: 10.1016/j.bbalip.2011.07.010. Epub 2011 Jul 23. |
3. | The ATP-binding cassette transporter-2 (ABCA2) regulates esterification of plasma membrane cholesterol by modulation of sphingolipid metabolism. | Davis W, Biochim Biophys Acta. 2014 Jan;1841(1):168-79. doi: 10.1016/j.bbalip.2013.10.019. Epub 2013 Nov 5. |
4. | 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. |
5. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
6. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
7. | Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-β production by altering Nicastrin maturation and intracellular localization. | Michaki V, etal., J Biol Chem. 2012 Jan 6;287(2):1100-11. doi: 10.1074/jbc.M111.288258. Epub 2011 Nov 15. |
8. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
9. | GOA pipeline | RGD automated data pipeline |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
12. | Temporal and spatial profiles of ABCA2-expressing oligodendrocytes in the developing rat brain. | Tanaka Y, etal., J Comp Neurol 2003 Jan 13;455(3):353-67. |
13. | Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. | Zhao LX, etal., Biochem J 2000 Sep 15;350 Pt 3:865-72. |
14. | Atp-binding cassette transporter ABC2/ABCA2 in the rat brain: a novel mammalian lysosome-associated membrane protein and a specific marker for oligodendrocytes but not for myelin sheaths. | Zhou C, etal., J Neurosci. 2001 Feb 1;21(3):849-57. |
15. | ATP-binding cassette transporter ABCA2 (ABC2) expression in the developing spinal cord and PNS during myelination. | Zhou CJ, etal., J Comp Neurol 2002 Sep 30;451(4):334-45. |
PMID:11178988 | PMID:11309290 | PMID:15238223 | PMID:15999530 | PMID:17060448 | PMID:19946888 | PMID:20704561 | PMID:22871113 | PMID:26510981 |
Abca2 (Rattus norvegicus - Norway rat) |
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ABCA2 (Homo sapiens - human) |
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Abca2 (Mus musculus - house mouse) |
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Abca2 (Chinchilla lanigera - long-tailed chinchilla) |
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ABCA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ABCA2 (Canis lupus familiaris - dog) |
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Abca2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ABCA2 (Sus scrofa - pig) |
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ABCA2 (Chlorocebus sabaeus - green monkey) |
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Abca2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Abca2
26 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 |
RH70531 |
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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 | 13 | 24 | 9 | 18 | 9 | 74 | 35 | 33 | 11 | ||||
Low | 3 | 30 | 33 | 32 | 1 | 32 | 8 | 11 | 8 | 8 | |||
Below cutoff |
RefSeq Transcripts | NM_024396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006233645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017592052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017592053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005501988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB037937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ214379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000020339 ⟹ ENSRNOP00000020339 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000109279 ⟹ ENSRNOP00000088059 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_024396 ⟹ NP_077372 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006233645 ⟹ XP_006233707 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017592052 ⟹ XP_017447541 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017592053 ⟹ XP_017447542 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039105895 ⟹ XP_038961823 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005501988 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_077372 | (Get FASTA) | NCBI Sequence Viewer |
XP_006233707 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017447541 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017447542 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961823 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAB16596 | (Get FASTA) | NCBI Sequence Viewer |
EDL93587 | (Get FASTA) | NCBI Sequence Viewer | |
Q9ESR9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_077372 ⟸ NM_024396 |
- UniProtKB: | Q9ESR9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006233707 ⟸ XM_006233645 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_017447541 ⟸ XM_017592052 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_017447542 ⟸ XM_017592053 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000020339 ⟸ ENSRNOT00000020339 |
RefSeq Acc Id: | XP_038961823 ⟸ XM_039105895 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | ENSRNOP00000088059 ⟸ ENSRNOT00000109279 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9ESR9-F1-model_v2 | AlphaFold | Q9ESR9 | 1-2434 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13691878 | ||||||||
Promoter ID: | EPDNEW_R2402 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Abca2_1 | ||||||||
Description: | ATP binding cassette subfamily A member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:620238 | AgrOrtholog |
BioCyc Gene | G2FUF-50453 | BioCyc |
Ensembl Genes | ENSRNOG00000014268 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000020339 | ENTREZGENE |
ENSRNOP00000020339.6 | UniProtKB/TrEMBL | |
ENSRNOP00000088059 | ENTREZGENE | |
ENSRNOP00000088059.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000020339 | ENTREZGENE |
ENSRNOT00000020339.8 | UniProtKB/TrEMBL | |
ENSRNOT00000109279 | ENTREZGENE | |
ENSRNOT00000109279.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | AAA+_ATPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ABC_transporter-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ABC_transporter_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ABCA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:79248 | UniProtKB/Swiss-Prot |
NCBI Gene | 79248 | ENTREZGENE |
PANTHER | ABC TRANSPORTER A FAMILY MEMBER 7-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR19229 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ABC2_membrane_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ABC_tran | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Abca2 | PhenoGen |
PROSITE | ABC_TRANSPORTER_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ABC_TRANSPORTER_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | AAA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I6A5D9_RAT | UniProtKB/TrEMBL |
ABCA2_RAT | UniProtKB/Swiss-Prot | |
G3V7X4_RAT | UniProtKB/TrEMBL | |
Q9ESR9 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-09 | Abca2 | ATP binding cassette subfamily A member 2 | Abca2 | ATP-binding cassette, subfamily A (ABC1), member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2010-11-16 | Abca2 | ATP-binding cassette, subfamily A (ABC1), member 2 | Abca2 | ATP-binding cassette, sub-family A (ABC1), member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Abca2 | ATP-binding cassette, sub-family A (ABC1), member 2 | Symbol and Name status set to approved | 1299863 | APPROVED | ||
2002-08-07 | Abca2 | ATP-binding cassette, sub-family A (ABC1), member 2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_product | member of the ABC1 subfamily of the ATP-binding casette (ABC) transporter superfamily | 631993 |
gene_protein | 2434 amino acids | 631993 |