Q92481 · AP2B_HUMAN
- ProteinTranscription factor AP-2-beta
- GeneTFAP2B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids460 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor AP-2-beta
- Short namesAP2-beta
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ92481
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: In the brain, localizes to the arcuate hypothalamic nucleus, the ventromedial hypothalamic nucleus and the accumbens nucleus of the ventral striatum.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Char syndrome (CHAR)
- Note
- DescriptionAn autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
- See alsoMIM:169100
Natural variants in CHAR
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_016977 | 73 | P>R | in CHAR; dbSNP:rs80338910 | |
VAR_016978 | 236 | R>C | in CHAR; dbSNP:rs80338912 | |
VAR_016979 | 236 | R>S | in CHAR; dbSNP:rs80338912 | |
VAR_011318 | 275 | A>D | in CHAR; dbSNP:rs80338914 | |
VAR_016980 | 285 | R>Q | in CHAR; dbSNP:rs80338915 | |
VAR_011319 | 300 | R>C | in CHAR; dbSNP:rs80338917 |
Patent ductus arteriosus 2 (PDA2)
- Note
- DescriptionA congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth.
- See alsoMIM:617035
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_016977 | 73 | in CHAR; dbSNP:rs80338910 | |||
Sequence: P → R | ||||||
Natural variant | VAR_016978 | 236 | in CHAR; dbSNP:rs80338912 | |||
Sequence: R → C | ||||||
Natural variant | VAR_016979 | 236 | in CHAR; dbSNP:rs80338912 | |||
Sequence: R → S | ||||||
Natural variant | VAR_011318 | 275 | in CHAR; dbSNP:rs80338914 | |||
Sequence: A → D | ||||||
Natural variant | VAR_016980 | 285 | in CHAR; dbSNP:rs80338915 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_011319 | 300 | in CHAR; dbSNP:rs80338917 | |||
Sequence: R → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 513 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, cross-link, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000184801 | 1-460 | UniProt | Transcription factor AP-2-beta | |||
Sequence: MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK | |||||||
Cross-link | 21 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 241 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 242 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 244 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 258 | UniProt | Phosphoserine; by PKA | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 258 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Sumoylated on Lys-21; which inhibits transcriptional activity.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
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.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q92481 | KAT5 Q92993 | 3 | EBI-725275, EBI-399080 | |
BINARY | Q92481 | LMO3 Q8TAP4-4 | 3 | EBI-725275, EBI-11742507 | |
BINARY | Q92481 | SETDB1 Q15047-2 | 3 | EBI-725275, EBI-9090795 | |
BINARY | Q92481 | YWHAG P61981 | 3 | EBI-725275, EBI-359832 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 30-139 | Disordered | ||||
Sequence: HDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRR | ||||||
Compositional bias | 36-60 | Polar residues | ||||
Sequence: HSSRLSQLGSVSQGPYSSAPPLSHT | ||||||
Compositional bias | 61-79 | Pro residues | ||||
Sequence: PSSDFQPPYFPPPYQPLPY | ||||||
Compositional bias | 80-117 | Polar residues | ||||
Sequence: HQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSE | ||||||
Region | 435-460 | Disordered | ||||
Sequence: NTTTNRHTSGEGPGSKTGDKEEKHRK |
Sequence similarities
Belongs to the AP-2 family.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q92481-1
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.
- Name1
- Length460
- Mass (Da)50,474
- Last updated2007-07-10 v2
- ChecksumA6420EA0C265DDA2
Q92481-2
- Name2
- Differences from canonical
- 27-27: E → EMLVHTYSSM
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
X6R4Y8 | X6R4Y8_HUMAN | TFAP2B | 198 |
Sequence caution
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_006408 | 27 | in isoform 2 | |||
Sequence: E → EMLVHTYSSM | ||||||
Compositional bias | 36-60 | Polar residues | ||||
Sequence: HSSRLSQLGSVSQGPYSSAPPLSHT | ||||||
Compositional bias | 61-79 | Pro residues | ||||
Sequence: PSSDFQPPYFPPPYQPLPY | ||||||
Compositional bias | 80-117 | Polar residues | ||||
Sequence: HQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSE | ||||||
Sequence conflict | 258 | in Ref. 1; CAA71047 | ||||
Sequence: S → A | ||||||
Sequence conflict | 362-460 | in Ref. 1; CAA71047 | ||||
Sequence: QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK → GNFVKNLRIYWRRTGHR |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y09912 EMBL· GenBank· DDBJ | CAA71047.1 EMBL· GenBank· DDBJ | Genomic DNA | Different initiation | |
AL031224 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL049693 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC037225 EMBL· GenBank· DDBJ | AAH37225.2 EMBL· GenBank· DDBJ | mRNA | ||
AJ278356 EMBL· GenBank· DDBJ | CAC01130.1 EMBL· GenBank· DDBJ | Genomic DNA | Different initiation | |
X95694 EMBL· GenBank· DDBJ | CAA64990.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |