| Tag | Content |
|---|---|
| Uniprot ID | P47242 |
| Entrez ID | 18511 |
| Genbank protein ID | CAA58824.1; CAA51518.1; AAH05794.1; |
| Genbank nucleotide ID | XM_006515581.3; NM_011041.3; XM_006515579.3; XM_006515580.3; XM_017314991.1; |
| Ensembl protein ID | ENSMUSP00000117928; ENSMUSP00000001538; |
| Ensembl nucleotide ID | ENSMUSG00000001497 |
| Gene name | Paired box protein Pax-9 |
| Gene symbol | Pax9 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLP |
| Developmental stage | E14.5 |
| Data sources | Manually collected |
| Reference | 21420399; 20123092; 9732271; 17610273; 28692808; |
| Functional description | Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. |
| Sequence | MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY 60 NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV 120 SSISRILRNK IGNLAQQGHY DSYKQHQPAP QPALPYNHIY SYPSPITAAA AKVPTPPGVP 180 AIPGSVALPR TWPSSHSVTD ILGIRSITDQ GVSDSSPYHS PKVEEWSSLG RNNFPAAAPH 240 AVNGLEKGAL EQEAKYGQAP NGLPAVSSFV SASSMAPYPT PAQVSPYMTY SAAPSGYVAG 300 HGWQHAGSTP LSPHNCDIPA SLAFKGMQAA REGSHSVTAS AL 342 |
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 | PAX9 | 540196 | F1MFP5 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | PAX9 | 102171104 | A0A452EZP5 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | PAX9 | 5083 | P55771 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Pax9 | 18511 | P47242 | CPO,CLP | E14.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | PAX9 | 737458 | Q2VL62 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | PAX9 | 100156821 | A0A480DYY0 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Pax9 | R9PXT8 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | pax9 | 30558 | Q98865 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| PAX9 | rs17104928G>A | Genotyping; TDT | 22976623 |
| PAX9 | rs730643A>G | GWAS | 31609978 |
| PAX9 | rs2415363C>A | GWAS | 31609978 |
| PAX9 | rs60708031G>T | GWAS | 31609978 |
| PAX9 | rs17176643C>A | Genotyping | 23921572 |
| PAX9 | rs12885612T>C | Sanger sequencing | 32679372 |
| PAX9 | rs12881248G>A | Sanger sequencing | 32679372 |
| PAX9 | c.640A>G ;p.S214G | Genotyping and TDT | 16247549 |
| PAX9 | rs2073242 | Genotyping | 24697712 |
| PAX9 | rs1955734*T | Genotyping | 26602496 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IMP |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA |
| GO:0003700 | DNA-binding transcription factor activity | TAS |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | TAS |
| GO:0007492 | endoderm development | IMP |
| GO:0009887 | animal organ morphogenesis | TAS |
| GO:0042476 | odontogenesis | IGI |
| GO:0042481 | regulation of odontogenesis | IGI |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0060325 | face morphogenesis | IGI |
| GO:0071363 | cellular response to growth factor stimulus | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IEA |
| GO:0005667 | transcription factor complex | TAS |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF00292 | PAX |