TFAP2B
Identifiers
Aliases	TFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta, PDA2, AP-2beta
External IDs	OMIM: 601601 MGI: 104672 HomoloGene: 20688 GeneCards: TFAP2B
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p12.3 Start 50,818,723 bp[1] End 50,847,619 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 A3 Start 19,279,138 bp[2] End 19,308,800 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis oocyte secondary oocyte parotid gland palpebral conjunctiva renal medulla lactiferous duct hair follicle kidney nipple Top expressed in connecting tubule parotid gland thin ascending limb of loop of Henle hair follicle superior cervical ganglion maxillary prominence conjunctival fornix iris lacrimal gland lip More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding transcription coactivator activity sequence-specific DNA binding transcription corepressor activity protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding RNA polymerase II general transcription initiation factor activity cysteine-type endopeptidase inhibitor activity involved in apoptotic process protein binding cis-regulatory region sequence-specific DNA binding protein heterodimerization activity RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component nucleus nucleoplasm Biological process negative regulation of neuron apoptotic process forelimb morphogenesis collecting duct development cellular urea homeostasis regulation of transcription, DNA-templated sympathetic nervous system development retina layer formation positive regulation of urine volume glucose homeostasis calcium ion homeostasis distal tubule development kidney development regulation of insulin secretion phosphate ion homeostasis cellular creatinine homeostasis negative regulation of apoptotic process transcription by RNA polymerase II metanephric nephron development aorta morphogenesis magnesium ion homeostasis hindlimb morphogenesis transcription, DNA-templated response to lithium ion regulation of BMP signaling pathway positive regulation of transcription, DNA-templated positive regulation of neuron apoptotic process cellular ammonium homeostasis potassium ion homeostasis positive regulation of cell population proliferation renal water homeostasis glucose metabolic process sensory organ development regulation of cell differentiation sodium ion homeostasis negative regulation of transcription, DNA-templated fat cell differentiation ductus arteriosus closure negative regulation of cell population proliferation skin development apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7021 21419 Ensembl ENSG00000008196 ENSMUSG00000025927 UniProt Q92481 Q61313 RefSeq (mRNA) NM_003221 NM_001025305 NM_001286340 NM_009334 RefSeq (protein) NP_003212 NP_001020476 NP_001273269 NP_033360 Location (UCSC) Chr 6: 50.82 – 50.85 Mb Chr 1: 19.28 – 19.31 Mb PubMed search [3] [4]
Wikidata
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Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.^[5][6]

Function

AP-2 beta is a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor.^[7]

Clinical significance

Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives.^[7]