Gene: IRF6

Basic information

Tag Content
Uniprot ID O14896; B4DLE2; D3DT90; F5GWX8; G0ZTL0;
Entrez ID 3664
Genbank protein ID AAH14852.1; AAB84111.1; EAW93438.1; AEL89176.1; EAW93439.1; BAG59504.1;
Genbank nucleotide ID NM_001206696.1; NM_006147.3;
Ensembl protein ID ENSP00000355988; ENSP00000440532;
Ensembl nucleotide ID ENSG00000117595
Gene name Interferon regulatory factor 6
Gene symbol IRF6
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 18278815; 16096995; 25592222; 12920575; 16132054; 18247422; 26346622; 20121942; 16160700; 15317890; 12964020; 20436469; 21039277; 20799332; 18209213; 17702008; 22887868; 25579819; 18506368; 17438386; 19734457; 20544801; 21683068; 25853057; 17549393; 15994871; 19419265; 25896061; 26714022; 12219090; 19536891; 20564431; 21834040; 23029012; 23921572; 21045959; 23169698; 20652317; 14618417; 27033726; 23940636; 15558496; 18798331; 19388848; 15013698; 14757865; 16998136; 23713753; 15472655; 25896037;
Functional description Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).
Sequence
MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 60
AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 120
GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 180
CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 240
MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 360
GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 420
LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ 467

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.

Gene expression information

Gene expression in different tissues (GTEx V7)