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Protein

Transcription factor AP-2-beta

Gene

TFAP2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000008196-MONOMER.
ReactomeiR-HSA-3232118. SUMOylation of transcription factors.
R-HSA-8866904. Negative regulation of activity of TFAP2 (AP-2) family transcription factors.
R-HSA-8866907. Activation of the TFAP2 (AP-2) family of transcription factors.
R-HSA-8866910. TFAP2 (AP-2) family regulates transcription of growth factors and their receptors.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor AP-2-beta
Short name:
AP2-beta
Alternative name(s):
Activating enhancer-binding protein 2-beta
Gene namesi
Name:TFAP2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:11743. TFAP2B.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Char syndrome (CHAR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
See also OMIM:169100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01697773P → R in CHAR. 1 PublicationCorresponds to variant rs80338910dbSNPEnsembl.1
Natural variantiVAR_016978236R → C in CHAR. 1 PublicationCorresponds to variant rs80338912dbSNPEnsembl.1
Natural variantiVAR_016979236R → S in CHAR. 1 PublicationCorresponds to variant rs80338912dbSNPEnsembl.1
Natural variantiVAR_011318275A → D in CHAR. 1 PublicationCorresponds to variant rs80338914dbSNPEnsembl.1
Natural variantiVAR_016980285R → Q in CHAR. 1 PublicationCorresponds to variant rs80338915dbSNPEnsembl.1
Natural variantiVAR_011319300R → C in CHAR. 1 PublicationCorresponds to variant rs80338917dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7021.
MalaCardsiTFAP2B.
MIMi169100. phenotype.
OpenTargetsiENSG00000008196.
Orphaneti46627. Char syndrome.
PharmGKBiPA36460.

Polymorphism and mutation databases

BioMutaiTFAP2B.
DMDMi152031557.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001848011 – 460Transcription factor AP-2-betaAdd BLAST460

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki21Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated
Modified residuei258Phosphoserine; by PKABy similarity1

Post-translational modificationi

Sumoylated on Lys-21; which inhibits transcriptional activity.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ92481.
PaxDbiQ92481.
PeptideAtlasiQ92481.
PRIDEiQ92481.

PTM databases

iPTMnetiQ92481.
PhosphoSitePlusiQ92481.

Expressioni

Gene expression databases

BgeeiENSG00000008196.
CleanExiHS_TFAP2B.
ExpressionAtlasiQ92481. baseline and differential.
GenevisibleiQ92481. HS.

Organism-specific databases

HPAiCAB010426.
HPA034683.

Interactioni

Subunit structurei

Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity.5 Publications

GO - Molecular functioni

  • protein dimerization activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi112879. 11 interactors.
IntActiQ92481. 4 interactors.
MINTiMINT-1424146.
STRINGi9606.ENSP00000377265.

Structurei

3D structure databases

ProteinModelPortaliQ92481.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi41 – 131Gln/Pro-rich (transactivation domain)Add BLAST91

Sequence similaritiesi

Belongs to the AP-2 family.Curated

Phylogenomic databases

eggNOGiKOG3811. Eukaryota.
ENOG410XR9E. LUCA.
GeneTreeiENSGT00550000074577.
HOVERGENiHBG002455.
InParanoidiQ92481.
KOiK09176.
OMAiIGHPGME.
OrthoDBiEOG091G0PR6.
PhylomeDBiQ92481.
TreeFamiTF313718.

Family and domain databases

InterProiIPR004979. TF_AP2.
IPR008122. TF_AP2_beta.
IPR013854. TF_AP2_C.
[Graphical view]
PANTHERiPTHR10812. PTHR10812. 1 hit.
PfamiPF03299. TF_AP-2. 1 hit.
[Graphical view]
PRINTSiPR01750. AP2BTNSCPFCT.
PR01748. AP2TNSCPFCT.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92481-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHSPPRDQAA IMLWKLVENV KYEDIYEDRH DGVPSHSSRL SQLGSVSQGP
60 70 80 90 100
YSSAPPLSHT PSSDFQPPYF PPPYQPLPYH QSQDPYSHVN DPYSLNPLHQ
110 120 130 140 150
PQQHPWGQRQ RQEVGSEAGS LLPQPRAALP QLSGLDPRRD YHSVRRPDVL
160 170 180 190 200
LHSAHHGLDA GMGDSLSLHG LGHPGMEDVQ SVEDANNSGM NLLDQSVIKK
210 220 230 240 250
VPVPPKSVTS LMMNKDGFLG GMSVNTGEVF CSVPGRLSLL SSTSKYKVTV
260 270 280 290 300
GEVQRRLSPP ECLNASLLGG VLRRAKSKNG GRSLRERLEK IGLNLPAGRR
310 320 330 340 350
KAANVTLLTS LVEGEAVHLA RDFGYICETE FPAKAVSEYL NRQHTDPSDL
360 370 380 390 400
HSRKNMLLAT KQLCKEFTDL LAQDRTPIGN SRPSPILEPG IQSCLTHFSL
410 420 430 440 450
ITHGFGAPAI CAALTALQNY LTEALKGMDK MFLNNTTTNR HTSGEGPGSK
460
TGDKEEKHRK
Length:460
Mass (Da):50,474
Last modified:July 10, 2007 - v2
Checksum:iA6420EA0C265DDA2
GO
Isoform 2 (identifier: Q92481-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-27: E → EMLVHTYSSM

Note: No experimental confirmation available.
Show »
Length:469
Mass (Da):51,524
Checksum:iC4E0DCC428DBF0F8
GO

Sequence cautioni

The sequence CAA64990 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA71047 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB41305 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC01130 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti258S → A in CAA71047 (PubMed:9271117).Curated1
Sequence conflicti362 – 460QLCKE…EKHRK → GNFVKNLRIYWRRTGHR in CAA71047 (PubMed:9271117).CuratedAdd BLAST99

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01697773P → R in CHAR. 1 PublicationCorresponds to variant rs80338910dbSNPEnsembl.1
Natural variantiVAR_016978236R → C in CHAR. 1 PublicationCorresponds to variant rs80338912dbSNPEnsembl.1
Natural variantiVAR_016979236R → S in CHAR. 1 PublicationCorresponds to variant rs80338912dbSNPEnsembl.1
Natural variantiVAR_011318275A → D in CHAR. 1 PublicationCorresponds to variant rs80338914dbSNPEnsembl.1
Natural variantiVAR_016980285R → Q in CHAR. 1 PublicationCorresponds to variant rs80338915dbSNPEnsembl.1
Natural variantiVAR_011319300R → C in CHAR. 1 PublicationCorresponds to variant rs80338917dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00640827E → EMLVHTYSSM in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09912 Genomic DNA. Translation: CAA71047.1. Different initiation.
AL031224 Genomic DNA. Translation: CAB41305.1. Different initiation.
AL031224, AL049693 Genomic DNA. Translation: CAI20235.2.
AL049693 Genomic DNA. Translation: CAB89563.3.
BC037225 mRNA. Translation: AAH37225.2.
AJ278356 Genomic DNA. Translation: CAC01130.1. Different initiation.
X95694 mRNA. Translation: CAA64990.1. Different initiation.
CCDSiCCDS4934.2. [Q92481-1]
RefSeqiNP_003212.2. NM_003221.3. [Q92481-1]
XP_011513139.1. XM_011514837.2. [Q92481-2]
UniGeneiHs.33102.

Genome annotation databases

EnsembliENST00000393655; ENSP00000377265; ENSG00000008196. [Q92481-1]
GeneIDi7021.
KEGGihsa:7021.
UCSCiuc003pag.4. human. [Q92481-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Wikipedia

Activating protein 2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09912 Genomic DNA. Translation: CAA71047.1. Different initiation.
AL031224 Genomic DNA. Translation: CAB41305.1. Different initiation.
AL031224, AL049693 Genomic DNA. Translation: CAI20235.2.
AL049693 Genomic DNA. Translation: CAB89563.3.
BC037225 mRNA. Translation: AAH37225.2.
AJ278356 Genomic DNA. Translation: CAC01130.1. Different initiation.
X95694 mRNA. Translation: CAA64990.1. Different initiation.
CCDSiCCDS4934.2. [Q92481-1]
RefSeqiNP_003212.2. NM_003221.3. [Q92481-1]
XP_011513139.1. XM_011514837.2. [Q92481-2]
UniGeneiHs.33102.

3D structure databases

ProteinModelPortaliQ92481.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112879. 11 interactors.
IntActiQ92481. 4 interactors.
MINTiMINT-1424146.
STRINGi9606.ENSP00000377265.

PTM databases

iPTMnetiQ92481.
PhosphoSitePlusiQ92481.

Polymorphism and mutation databases

BioMutaiTFAP2B.
DMDMi152031557.

Proteomic databases

MaxQBiQ92481.
PaxDbiQ92481.
PeptideAtlasiQ92481.
PRIDEiQ92481.

Protocols and materials databases

DNASUi7021.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393655; ENSP00000377265; ENSG00000008196. [Q92481-1]
GeneIDi7021.
KEGGihsa:7021.
UCSCiuc003pag.4. human. [Q92481-1]

Organism-specific databases

CTDi7021.
DisGeNETi7021.
GeneCardsiTFAP2B.
GeneReviewsiTFAP2B.
HGNCiHGNC:11743. TFAP2B.
HPAiCAB010426.
HPA034683.
MalaCardsiTFAP2B.
MIMi169100. phenotype.
601601. gene.
neXtProtiNX_Q92481.
OpenTargetsiENSG00000008196.
Orphaneti46627. Char syndrome.
PharmGKBiPA36460.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3811. Eukaryota.
ENOG410XR9E. LUCA.
GeneTreeiENSGT00550000074577.
HOVERGENiHBG002455.
InParanoidiQ92481.
KOiK09176.
OMAiIGHPGME.
OrthoDBiEOG091G0PR6.
PhylomeDBiQ92481.
TreeFamiTF313718.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000008196-MONOMER.
ReactomeiR-HSA-3232118. SUMOylation of transcription factors.
R-HSA-8866904. Negative regulation of activity of TFAP2 (AP-2) family transcription factors.
R-HSA-8866907. Activation of the TFAP2 (AP-2) family of transcription factors.
R-HSA-8866910. TFAP2 (AP-2) family regulates transcription of growth factors and their receptors.

Miscellaneous databases

GeneWikiiTFAP2B.
GenomeRNAii7021.
PROiQ92481.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000008196.
CleanExiHS_TFAP2B.
ExpressionAtlasiQ92481. baseline and differential.
GenevisibleiQ92481. HS.

Family and domain databases

InterProiIPR004979. TF_AP2.
IPR008122. TF_AP2_beta.
IPR013854. TF_AP2_C.
[Graphical view]
PANTHERiPTHR10812. PTHR10812. 1 hit.
PfamiPF03299. TF_AP-2. 1 hit.
[Graphical view]
PRINTSiPR01750. AP2BTNSCPFCT.
PR01748. AP2TNSCPFCT.
ProtoNetiSearch...

Entry informationi

Entry nameiAP2B_HUMAN
AccessioniPrimary (citable) accession number: Q92481
Secondary accession number(s): Q5JYX6
, Q9NQ63, Q9NU99, Q9UJI7, Q9Y214, Q9Y3K3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: July 10, 2007
Last modified: November 2, 2016
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.