| Tag | Content |
|---|---|
| Uniprot ID | P63080; P15433; Q3UHR3; |
| Entrez ID | 14402 |
| Genbank protein ID | BAE27794.1; BAC30230.1; AAB60502.1; |
| Genbank nucleotide ID | NM_008071.3 |
| Ensembl protein ID | ENSMUSP00000038051 |
| Ensembl nucleotide ID | ENSMUSG00000033676 |
| Gene name | Gamma-aminobutyric acid receptor subunit beta-3 |
| Gene symbol | Gabrb3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 8392662; 1495987; 8389469; 9108119; |
| Functional description | Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:9108119). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA- gated ion channel (PubMed:27129275). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (PubMed:27129275). The alpha1/beta3/gamma2 receptor exhibits synatogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (PubMed:27129275). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). Plays an important role in somatosensation and in the production of antinociception (PubMed:10670447). |
| Sequence | MWGFAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 60 VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 120 TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 180 SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 240 RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 300 PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSEINR 360 VDAHGNILLA PMDVHNEMNE VAGSVGDTRN SAISFDNSGI QYRKQSMPKE GHGRYMGDRS 420 IPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN 473 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | GABRB3 | A0A452FJH3 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | GABRB3 | 2562 | P28472 | CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Gabrb3 | 14402 | P63080 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | GABRB3 | 453265 | A0A2I3THQ1 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | A0A4X1UB00 | Sus scrofa | Prediction | More>> | ||||
| 1:1 ortholog | Gabrb3 | A0A0G2K0J9 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| GABRB3 | c.89T>C; p.I300T (heterozygous) | WES | 31319422 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004890 | GABA-A receptor activity | ISS |
| GO:0004890 | GABA-A receptor activity | ISO |
| GO:0004890 | GABA-A receptor activity | IMP |
| GO:0005254 | chloride channel activity | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0022851 | GABA-gated chloride ion channel activity | ISS |
| GO:0022851 | GABA-gated chloride ion channel activity | ISO |
| GO:0022851 | GABA-gated chloride ion channel activity | IMP |
| GO:0035612 | AP-2 adaptor complex binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:1904315 | transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | IDA |
| GO:1904315 | transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | IMP |
| GO:0022851 | GABA-gated chloride ion channel activity | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0007165 | signal transduction | IBA |
| GO:0007214 | gamma-aminobutyric acid signaling pathway | ISS |
| GO:0007214 | gamma-aminobutyric acid signaling pathway | ISO |
| GO:0007268 | chemical synaptic transmission | IBA |
| GO:0007605 | sensory perception of sound | IMP |
| GO:0034220 | ion transmembrane transport | IBA |
| GO:0042391 | regulation of membrane potential | IBA |
| GO:0043523 | regulation of neuron apoptotic process | IMP |
| GO:0043524 | negative regulation of neuron apoptotic process | IMP |
| GO:0048666 | neuron development | IMP |
| GO:0050877 | nervous system process | IBA |
| GO:0051932 | synaptic transmission, GABAergic | ISO |
| GO:0060021 | roof of mouth development | IMP |
| GO:0060080 | inhibitory postsynaptic potential | IMP |
| GO:0060119 | inner ear receptor cell development | IMP |
| GO:0060384 | innervation | IMP |
| GO:0071420 | cellular response to histamine | ISS |
| GO:0071420 | cellular response to histamine | ISO |
| GO:0090102 | cochlea development | IMP |
| GO:1901215 | negative regulation of neuron death | IMP |
| GO:1902476 | chloride transmembrane transport | ISS |
| GO:1902476 | chloride transmembrane transport | ISO |
| GO:1902476 | chloride transmembrane transport | IMP |
| GO:1904862 | inhibitory synapse assembly | ISO |
| GO:1904862 | inhibitory synapse assembly | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | ISS |
| GO:0005886 | plasma membrane | IDA |
| GO:0005887 | integral component of plasma membrane | ISS |
| GO:0005887 | integral component of plasma membrane | ISO |
| GO:0005887 | integral component of plasma membrane | IBA |
| GO:0030054 | cell junction | IEA |
| GO:0030659 | cytoplasmic vesicle membrane | IEA |
| GO:0034707 | chloride channel complex | IEA |
| GO:0043005 | neuron projection | IBA |
| GO:0043195 | terminal bouton | ISO |
| GO:0045202 | synapse | IBA |
| GO:0060077 | inhibitory synapse | ISO |
| GO:0098982 | GABA-ergic synapse | ISO |
| GO:0098982 | GABA-ergic synapse | IDA |
| GO:0098982 | GABA-ergic synapse | IMP |
| GO:0099055 | integral component of postsynaptic membrane | ISO |
| GO:0099060 | integral component of postsynaptic specialization membrane | ISO |
| GO:1902711 | GABA-A receptor complex | ISS |
| GO:1902711 | GABA-A receptor complex | ISO |
| GO:1902711 | GABA-A receptor complex | IMP |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-112314 | Neurotransmitter receptors and postsynaptic signal transmission | IEA |
| R-MMU-112315 | Transmission across Chemical Synapses | IEA |
| R-MMU-112316 | Neuronal System | IEA |
| R-MMU-977443 | GABA receptor activation | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0965 | Cell junction |
| KW-1003 | Cell membrane |
| KW-0868 | Chloride |
| KW-0869 | Chloride channel |
| KW-0968 | Cytoplasmic vesicle |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0407 | Ion channel |
| KW-0406 | Ion transport |
| KW-1071 | Ligand-gated ion channel |
| KW-0472 | Membrane |
| KW-0628 | Postsynaptic cell membrane |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0732 | Signal |
| KW-0770 | Synapse |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0813 | Transport |
| PROSITE ID | PROSITE Term |
|---|---|
| PS00236 | NEUROTR_ION_CHANNEL |