| Tag | Content |
|---|---|
| Uniprot ID | Q99697; A8K6C6; B2RA02; B3KXS0; O60578; O60579; O60580; Q3KQX9; Q9BY17; |
| Entrez ID | 5308 |
| Genbank protein ID | AAC39718.1; AAC39717.1; AAH13998.1; AAK15048.1; EAX06263.1; AAC39716.1; BAF84280.1; EAX06262.1; EAX06264.1; AAI06011.1; BAG54582.1; BAG36699.1; AAC16257.1; |
| Genbank nucleotide ID | XM_011532027.2; NM_153426.2; NM_000325.5; NM_001204399.1; NM_001204397.1; NM_001204398.1; NM_153427.2; |
| Ensembl protein ID | ENSP00000347004; ENSP00000378095; ENSP00000481951; ENSP00000347192; ENSP00000495061; ENSP00000484909; ENSP00000484763; |
| Ensembl nucleotide ID | ENSG00000164093 |
| Gene name | Pituitary homeobox 2 |
| Gene symbol | PITX2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity). |
| Sequence | METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS KFFPRQHPGA 60 NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL EATFQRNRYP DMSTREEIAV 120 WTNLTEARVR VWFKNRRAKW RKRERNQQAE LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA 180 AKGLTSASLS TKSFPFFNSM NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN 240 SLNNLNNLSS PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 300 NPASNLSACQ YAVDRPV 317 |
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.