Gene: Tfap2b

Basic information

Tag Content
Uniprot ID Q61313; Q8CEP1;
Entrez ID 21419
Genbank protein ID BAB30714.2; CAA55036.1;
Genbank nucleotide ID NM_009334.3
Ensembl protein ID ENSMUSP00000027059
Ensembl nucleotide ID ENSMUSG00000025927
Gene name Transcription factor AP-2-beta
Gene symbol Tfap2b
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 29229773
Functional description Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.
Sequence
MHSPPRDQAA IMLWKLVENV KYEDIYEDRH DGVPSHSSRL SQLGSVSQGP YSSAPPLSHT 60
PSSDFQPPYF PPPYQPLPYH QSQDPYSHVN DPYSLNPLHQ PQQHPWGQRQ RQEVGSEAGS 120
LLPQPRAALP QLSGLDPRRD YHSVRRPDVL LHSAHHGLDA GMGDSLSLHG LGHPGMEDVQ 180
SVEDANNSGM NLLDQSVIKK VPVPPKSVTS LMMNKDGFLG GMSVNTGEVF CSVPGRLSLL 240
SSTSKYKVTV GEVQRRLSPP ECLNASLLGG VLRRAKSKNG GRSLRERLEK IGLNLPAGRR 300
KAANVTLLTS LVEGEAVHLA RDFGYICETE FPAKAVSEYL NRQHTDPSDL HSRKNMLLAT 360
KQLCKEFTDL LAQDRTPIGN SRPSPILEPG IQSCLTHFSL ITHGFGAPAI CAALTALQNY 420
LTEALKGMDK MFLNNTTNRH TSGEGPGSKT GDKEEKHRK 459

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 structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingISO
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISO
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIDA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0000987 cis-regulatory region sequence-specific DNA bindingISO
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIDA
GO:0003682 chromatin bindingISO
GO:0003700 DNA-binding transcription factor activityISS
GO:0003700 DNA-binding transcription factor activityISO
GO:0003713 transcription coactivator activityISO
GO:0003713 transcription coactivator activityIDA
GO:0003714 transcription corepressor activityISO
GO:0003714 transcription corepressor activityIDA
GO:0005515 protein bindingIPI
GO:0042803 protein homodimerization activityISO
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic processIMP
GO:0043565 sequence-specific DNA bindingISS
GO:0043565 sequence-specific DNA bindingISO
GO:0046982 protein heterodimerization activityISO
GO:0046983 protein dimerization activityISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISO
GO:0001822 kidney developmentIMP
GO:0003091 renal water homeostasisIMP
GO:0006006 glucose metabolic processISS
GO:0006006 glucose metabolic processISO
GO:0006355 regulation of transcription, DNA-templatedISS
GO:0006355 regulation of transcription, DNA-templatedISO
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0006366 transcription by RNA polymerase IIIDA
GO:0006915 apoptotic processIEA
GO:0007423 sensory organ developmentIEP
GO:0008284 positive regulation of cell population proliferationISO
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008285 negative regulation of cell population proliferationISS
GO:0008285 negative regulation of cell population proliferationISO
GO:0010842 retina layer formationIEA
GO:0010960 magnesium ion homeostasisIMP
GO:0030510 regulation of BMP signaling pathwayIMP
GO:0035136 forelimb morphogenesisIMP
GO:0035137 hindlimb morphogenesisIMP
GO:0035810 positive regulation of urine volumeIMP
GO:0035909 aorta morphogenesisIMP
GO:0042127 regulation of cell population proliferationIBA
GO:0042493 response to drugIEA
GO:0042593 glucose homeostasisIMP
GO:0043066 negative regulation of apoptotic processISO
GO:0043066 negative regulation of apoptotic processIMP
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic processIEA
GO:0043524 negative regulation of neuron apoptotic processIGI
GO:0043525 positive regulation of neuron apoptotic processISS
GO:0043525 positive regulation of neuron apoptotic processISO
GO:0043588 skin developmentIEP
GO:0045444 fat cell differentiationIEP
GO:0045595 regulation of cell differentiationISS
GO:0045595 regulation of cell differentiationISO
GO:0045892 negative regulation of transcription, DNA-templatedISS
GO:0045892 negative regulation of transcription, DNA-templatedISO
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048485 sympathetic nervous system developmentIGI
GO:0050796 regulation of insulin secretionISS
GO:0050796 regulation of insulin secretionISO
GO:0055062 phosphate ion homeostasisIMP
GO:0055074 calcium ion homeostasisIMP
GO:0055075 potassium ion homeostasisIMP
GO:0055078 sodium ion homeostasisIMP
GO:0072017 distal tubule developmentIMP
GO:0072044 collecting duct developmentIMP
GO:0072210 metanephric nephron developmentIEP
GO:0097070 ductus arteriosus closureIMP
GO:0097275 cellular ammonia homeostasisIMP
GO:0097276 cellular creatinine homeostasisIMP
GO:0097277 cellular urea homeostasisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005623 cellIEA
GO:0005634 nucleusISS
GO:0005634 nucleusISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-212436 Generic Transcription PathwayIEA
R-MMU-73857 RNA Polymerase II TranscriptionIEA
R-MMU-74160 Gene expression (Transcription)IEA
R-MMU-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsIEA
R-MMU-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factorsIEA
R-MMU-8866907 Activation of the TFAP2 (AP-2) family of transcription factorsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0010 Activator
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR004979 TF_AP2
IPR008122 TF_AP2_beta
IPR013854 TF_AP2_C

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF03299 TF_AP-2

Protein-miRNA interaction