| Tag | Content |
|---|---|
| Uniprot ID | P48031; Q14A66; |
| Entrez ID | 14472 |
| Genbank protein ID | CAA88737.1; AAC61877.1; AAI16966.1; AAA63314.1; AAA65185.1; AAI20493.1; |
| Genbank nucleotide ID | NM_010262.3 |
| Ensembl protein ID | ENSMUSP00000048508 |
| Ensembl nucleotide ID | ENSMUSG00000034486 |
| Gene name | Homeobox protein GBX-2 |
| Gene symbol | Gbx2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9247335 |
| Functional description | May act as a transcription factor for cell pluripotency and differentiation in the embryo. |
| Sequence | MSAAFPPSLM MMQRPLGSST AFSIDSLIGS PPQPSPGHFV YTGYPMFMPY RPVVLPPPPP 60 PPPALPQAAL QPALPPAHPH HQIPSLPTGF CSSLAQGMAL TSTLMATLPG GFSASPQHQE 120 AAAARKFAPQ PLPGGGNFDK AEALQADAED GKAFLAKEGS LLAFSAAEAV QASLVGAVRG 180 QGKDESKVED DPKGKEESFS LESDVDYSSD DNLPGQTAHK EEDPGHALEE TPQSGGAAGS 240 TTSTGKNRRR RTAFTSEQLL ELEKEFHCKK YLSLTERSQI AHALKLSEVQ VKIWFQNRRA 300 KWKRVKAGNA NSKTGEPSRN PKIVVPIPVH VSRFAIRSQH QQLEQARP 348 |
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 | GBX2 | 486174 | E2RC01 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | GBX2 | 102174804 | A0A452EY65 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | GBX2 | 2637 | P52951 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Gbx2 | 14472 | P48031 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | GBX2 | 470689 | H2QJN8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | GBX2 | 100514608 | F1SM11 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | GBX2 | 100353889 | G1T4M0 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Gbx2 | 114500 | G3V8J6 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | gbx2 | 245948 | Q8QGU1 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA |
| GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IDA |
| GO:0001085 | RNA polymerase II transcription factor binding | IDA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001569 | branching involved in blood vessel morphogenesis | IGI |
| GO:0001569 | branching involved in blood vessel morphogenesis | IMP |
| GO:0001755 | neural crest cell migration | IMP |
| GO:0007411 | axon guidance | IMP |
| GO:0021549 | cerebellum development | IMP |
| GO:0021549 | cerebellum development | IBA |
| GO:0021555 | midbrain-hindbrain boundary morphogenesis | IMP |
| GO:0021568 | rhombomere 2 development | IMP |
| GO:0021794 | thalamus development | IMP |
| GO:0021884 | forebrain neuron development | IMP |
| GO:0021930 | cerebellar granule cell precursor proliferation | IMP |
| GO:0030902 | hindbrain development | IMP |
| GO:0030902 | hindbrain development | IBA |
| GO:0030917 | midbrain-hindbrain boundary development | IMP |
| GO:0035239 | tube morphogenesis | IMP |
| GO:0042472 | inner ear morphogenesis | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048483 | autonomic nervous system development | IMP |
| GO:0051960 | regulation of nervous system development | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IBA |
| GO:0005634 | nucleus | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF00046 | Homeodomain |