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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | GABRA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | GABRA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Atomic force microscopy reveals the stoichiometry and subunit arrangement of the alpha4beta3delta GABA(A) receptor. | Barrera NP, etal., Mol Pharmacol. 2008 Mar;73(3):960-7. doi: 10.1124/mol.107.042481. Epub 2007 Dec 13. |
2. | Neonatal development of the rat visual cortex: synaptic function of GABAA receptor alpha subunits. | Bosman LW, etal., J Physiol 2002 Nov 15;545(Pt 1):169-81. |
3. | GABAA Receptors and the Diversity in their Structure and Pharmacology. | Chua HC and Chebib M, Adv Pharmacol. 2017;79:1-34. doi: 10.1016/bs.apha.2017.03.003. Epub 2017 May 2. |
4. | Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. | Collins AL, etal., Neurogenetics. 2006 Jul;7(3):167-74. Epub 2006 Jun 13. |
5. | mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism. | Fatemi SH, etal., J Autism Dev Disord. 2010 Jun;40(6):743-50. |
6. | 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. |
7. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
8. | Sex differences in anxiety, sensorimotor gating and expression of the alpha4 subunit of the GABAA receptor in the amygdala after progesterone withdrawal. | Gulinello M, etal., Eur J Neurosci 2003 Feb;17(3):641-8. |
9. | Chronic intermittent ethanol-induced switch of ethanol actions from extrasynaptic to synaptic hippocampal GABAA receptors. | Liang J, etal., J Neurosci. 2006 Feb 8;26(6):1749-58. doi: 10.1523/JNEUROSCI.4702-05.2006. |
10. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
11. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
12. | GOA pipeline | RGD automated data pipeline |
13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
15. | Cloning, pharmacological characteristics and expression pattern of the rat GABAA receptor alpha 4 subunit. | Wisden W, etal., FEBS Lett 1991 Sep 9;289(2):227-30. |
PMID:1312131 | PMID:1312132 | PMID:1379501 | PMID:1966765 | PMID:15708482 | PMID:15834956 | PMID:16091474 | PMID:17005728 | PMID:17403139 | PMID:18003843 | PMID:18056985 | PMID:18562204 |
PMID:19144854 | PMID:21155805 | PMID:21439793 | PMID:21924329 | PMID:22213233 | PMID:23079628 | PMID:24011224 | PMID:25223733 | PMID:27382064 | PMID:28218471 |
Gabra4 (Rattus norvegicus - Norway rat) |
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GABRA4 (Homo sapiens - human) |
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Gabra4 (Mus musculus - house mouse) |
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Gabra4 (Chinchilla lanigera - long-tailed chinchilla) |
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GABRA4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GABRA4 (Canis lupus familiaris - dog) |
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Gabra4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GABRA4 (Sus scrofa - pig) |
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GABRA4 (Chlorocebus sabaeus - green monkey) |
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Gabra4 (Heterocephalus glaber - naked mole-rat) |
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Variants in Gabra4
661 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 |
D5Buc33 |
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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 | 45 | |||||||||||
Low | 12 | 29 | 29 | 19 | 2 | |||||||
Below cutoff | 31 | 22 | 12 | 12 | 12 | 7 | 8 | 6 | 21 | 6 | 7 |
RefSeq Transcripts | NM_080587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008770135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JACYVU010000252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L08493 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S55933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000003191 ⟹ ENSRNOP00000003191 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_080587 ⟹ NP_542154 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039091568 ⟹ XP_038947496 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039091569 ⟹ XP_038947497 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039091570 ⟹ XP_038947498 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_542154 | (Get FASTA) | NCBI Sequence Viewer |
XP_038947496 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947497 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947498 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB19902 | (Get FASTA) | NCBI Sequence Viewer |
AAC42032 | (Get FASTA) | NCBI Sequence Viewer | |
EDL90005 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000003191 | ||
GenBank Protein | P28471 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_542154 ⟸ NM_080587 |
- Peptide Label: | precursor |
- UniProtKB: | P28471 (UniProtKB/Swiss-Prot), A6JD83 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000003191 ⟸ ENSRNOT00000003191 |
RefSeq Acc Id: | XP_038947496 ⟸ XM_039091568 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038947498 ⟸ XM_039091570 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038947497 ⟸ XM_039091569 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P28471-F1-model_v2 | AlphaFold | P28471 | 1-552 | 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:621670 | AgrOrtholog |
BioCyc Gene | G2FUF-15837 | BioCyc |
Ensembl Genes | ENSRNOG00000002336 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENSRNOT00000003191 | ENTREZGENE, UniProtKB/Swiss-Prot |
Gene3D-CATH | 1.20.58.390 | UniProtKB/Swiss-Prot |
2.70.170.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neurotransmitter-gated ion-channel transmembrane domain | UniProtKB/TrEMBL | |
InterPro | GABAA/Glycine_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GABAAa_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GABBAa4_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Gabra-1-6_TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neur_chan_lig-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neur_chan_lig-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neur_channel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neuro-gated_channel_TM_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neuro_actylchol_rec | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neurotrans-gated_channel_TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neurotransmitter_ion_chnl_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:140675 | UniProtKB/Swiss-Prot |
NCBI Gene | 140675 | ENTREZGENE |
PANTHER | GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT ALPHA-4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NEUROTRANSMITTER GATED ION CHANNEL | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
Pfam | Neur_chan_LBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Neur_chan_memb | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Gabra4 | PhenoGen |
PRINTS | GABAARALPHA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GABAARALPHA4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GABAARECEPTR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NRIONCHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | NEUROTR_ION_CHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000002336 | RatGTEx |
Superfamily-SCOP | Neurotransmitter-gated ion-channel transmembrane pore | UniProtKB/TrEMBL |
Nicotinic receptor ligand binding domain-like | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
SSF90112 | UniProtKB/Swiss-Prot | |
UniProt | A6JD83 | ENTREZGENE, UniProtKB/TrEMBL |
GBRA4_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-12-06 | Gabra4 | gamma-aminobutyric acid type A receptor subunit alpha 4 | Gabra4 | gamma-aminobutyric acid type A receptor alpha4 subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-02-11 | Gabra4 | gamma-aminobutyric acid type A receptor alpha4 subunit | Gabra4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-11-04 | Gabra4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | Gabra4 | gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-02-26 | Gabra4 | gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 4 | Symbol and Name status set to approved | 625702 | APPROVED | ||
2002-08-07 | Gabra4 | gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 4 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_regulation | expression was up-regulated in females during progesterone withdrawal | 1299322 |