| Tag | Content |
|---|---|
| Uniprot ID | P55771; Q99582; Q9UQR4; |
| Entrez ID | 5083 |
| Genbank protein ID | CAB41533.1; AAH01159.1; CAA63436.1; |
| Genbank nucleotide ID | NM_006194.3 |
| Ensembl protein ID | ENSP00000384817; ENSP00000355245; |
| Ensembl nucleotide ID | ENSG00000198807 |
| Gene name | Paired box protein Pax-9 |
| Gene symbol | PAX9 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 22976623; 26602496; 24697712; 16247549; 23921572; |
| 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 DSYKQHQPTP QPALPYNHIY SYPSPITAAA AKVPTPPGVP 180 AIPGSVAMPR TWPSSHSVTD ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA 240 VNGLEKGALE QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH 300 GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L 341 |
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.