CleftGeneDB-Search

Gene: Pitx2

Basic information

Tag	Content
Uniprot ID	Q9R0W1
Entrez ID	54284
Genbank protein ID	CAB52283.1; CAB52284.1; AAC70909.1;
Genbank nucleotide ID	XM_017591054.1; NM_001042505.1; NM_019334.2;
Ensembl protein ID	ENSRNOP00000043402; ENSRNOP00000046259;
Ensembl nucleotide ID	ENSRNOG00000010681
Gene name	Pituitary homeobox 2
Gene symbol	Pitx2
Organism	Rattus norvegicus
NCBI taxa ID	10116
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 (By similarity).
Sequence	MNCMKGPLPL EHRAAGTKLS AASSPFCHHT QALAMASVLA PGQPRSLDAS KHRLEVHTIS 60 DTSSPEVAEK DKGQQGKNED VGAEDPSKKK RQRRQRTHFT SQQLQELEAT FQRNRYPDMS 120 TREEIAVWTN LTEARVRVWF KNRRAKWRKR ERNQQAELCK NGFGPQFNGL MQPYDDMYPG 180 YSYNNWAAKG LTSASLSTKS FPFFNSMNVN PLSSQSMFSP PNSISSMSMS SSMVPSAVTG 240 VPGSSLNSLN NLNNLSSPSL NSAVPTPACP YAPPTPPYVY RDTCNSSLAS LRLKAKQHSS 300 FGYASVQNPA SNLSACQYAV DRPV 324

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.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	Pitx2	18741	P97474	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PITX2	506721	A5D7J4			Bos taurus	Prediction	More>>
1:1 ortholog	PITX2	487902	E2R5R2			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PITX2	102180740	A0A452E417			Capra hircus	Prediction	More>>
1:1 ortholog	PITX2	5308	Q99697			Homo sapiens	Prediction	More>>
1:1 ortholog	PITX2	461438	K7DFT6			Pan troglodytes	Prediction	More>>
1:1 ortholog	PITX2		A0A287AUF8			Sus scrofa	Prediction	More>>
1:1 ortholog	Pitx2	54284	Q9R0W1			Rattus norvegicus	Prediction	More>>
1:1 ortholog	pitx2	30164	Q9W5Z2			Danio rerio	Prediction	More>>

Showing 1 to 9 of 9 entries

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Gene ontology

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GO ID	GO Term
GO:0000122	negative regulation of transcription by RNA polymerase II
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001085	RNA polymerase II transcription factor binding
GO:0001102	RNA polymerase II activating transcription factor binding
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001569	branching involved in blood vessel morphogenesis
GO:0001570	vasculogenesis
GO:0001701	in utero embryonic development
GO:0001764	neuron migration
GO:0002074	extraocular skeletal muscle development
GO:0003171	atrioventricular valve development
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0003350	pulmonary myocardium development
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	DNA-binding transcription factor activity
GO:0005634	nucleus