Tag | Content |
---|---|
Uniprot ID | Q8IXZ3; Q7Z615; Q7Z616; Q96MJ1; |
Entrez ID | 221833 |
Genbank protein ID | EAW93731.1; AAO38028.1; BAB71297.1; AAO38029.1; |
Genbank nucleotide ID | NM_198956.3; NM_182700.5; |
Ensembl protein ID | ENSP00000408792; ENSP00000354482; |
Ensembl nucleotide ID | ENSG00000164651 |
Gene name | Transcription factor Sp8 |
Gene symbol | SP8 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity). |
Sequence | MLAATCNKIG SPSPSPSSLS DSSSSFGKGF HPWKRSSSSS SASCNVVGSS LSSFGVSGAS 60 RNGGSSSAAA AAAAAAAAAA ALVSDSFSCG GSPGSSAFSL TSSSAAAAAA AAAAAASSSP 120 FANDYSVFQA PGVSGGSGGG GGGGGGGSSA HSQDGSHQPV FISKVHTSVD GLQGIYPRVG 180 MAHPYESWFK PSHPGLGAAG EVGSAGASSW WDVGAGWIDV QNPNSAAALP GSLHPAAGGL 240 QTSLHSPLGG YNSDYSGLSH SAFSSGASSH LLSPAGQHLM DGFKPVLPGS YPDSAPSPLA 300 GAGGSMLSAG PSAPLGGSPR SSARRYSGRA TCDCPNCQEA ERLGPAGASL RRKGLHSCHI 360 PGCGKVYGKT SHLKAHLRWH TGERPFVCNW LFCGKRFTRS DELQRHLRTH TGEKRFACPV 420 CNKRFMRSDH LSKHVKTHSG GGGGGGSAGS GSGGKKGSDT DSEHSAAGSP PCHSPELLQP 480 PEPGHRNGLE |
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.