TFAP2B

Protein that in humans and is encoded by the TFAP2B gene
TFAP2B
Identifiers
AliasesTFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta, PDA2, AP-2beta
External IDsOMIM: 601601 MGI: 104672 HomoloGene: 20688 GeneCards: TFAP2B
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for TFAP2B
Genomic location for TFAP2B
Band6p12.3Start50,818,723 bp[1]
End50,847,619 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for TFAP2B
Genomic location for TFAP2B
Band1|1 A3Start19,279,138 bp[2]
End19,308,800 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 1: 19.28 – 19.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000008196 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025927 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, Hofstädter F, Schüle R, Buettner R (1 September 1995). "Cloning and characterization of a second AP-2 transcription factor: AP-2 beta". Development. 121 (9): 2779–88. doi:10.1242/dev.121.9.2779. PMID 7555706.
  6. ^ Williamson JA, Bosher JM, Skinner A, Sheer D, Williams T, Hurst HC (July 1996). "Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors". Genomics. 35 (1): 262–4. doi:10.1006/geno.1996.0351. PMID 8661133.
  7. ^ a b "Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)".

Further reading

  • Tsukada S, Tanaka Y, Maegawa H, et al. (2006). "Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes". Mol. Endocrinol. 20 (5): 1104–11. doi:10.1210/me.2005-0311. PMID 16373396.
  • Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
  • Lindgren CM, Heid IM, Randall JC, et al. (2009). Allison DB (ed.). "Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution". PLOS Genet. 5 (6): e1000508. doi:10.1371/journal.pgen.1000508. PMC 2695778. PMID 19557161.
  • Nordquist N, Göktürk C, Comasco E, et al. (2009). "The transcription factor TFAP2B is associated with insulin resistance and adiposity in healthy adolescents". Obesity (Silver Spring). 17 (9): 1762–7. doi:10.1038/oby.2009.83. PMID 19325541. S2CID 205527800.
  • Prichard ZM, Jorm AF, Mackinnon A, Easteal S (2007). "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. 17 (5): 299–303. doi:10.1097/YPG.0b013e32816ebc9e. hdl:1885/34438. PMID 17728669. S2CID 10358616.
  • Michelon L, Meira-Lima I, Cordeiro Q, et al. (2006). "Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and retrospectively scored response to lithium prophylaxis in bipolar disorder". Neurosci. Lett. 403 (3): 288–93. doi:10.1016/j.neulet.2006.05.001. PMID 16787706. S2CID 38829920.
  • Fogu G, Bandiera P, Cambosu F, et al. (2007). "Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies". Eur J Med Genet. 50 (2): 103–11. doi:10.1016/j.ejmg.2006.11.002. PMID 17185054.
  • Hensch T, Wargelius HL, Herold U, et al. (2008). "Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene". Neurosci. Lett. 436 (1): 67–71. doi:10.1016/j.neulet.2008.02.062. PMID 18358611. S2CID 1151572.
  • Khetyar M, Syrris P, Tinworth L, et al. (2008). "Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus". Genet. Test. 12 (3): 457–9. doi:10.1089/gte.2008.0015. PMID 18752453.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Dagle JM, Lepp NT, Cooper ME, et al. (2009). "Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants". Pediatrics. 123 (4): 1116–23. doi:10.1542/peds.2008-0313. PMC 2734952. PMID 19336370.
  • Ding X, Fan C, Zhou J, et al. (2006). "GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation". Nucleic Acids Res. 34 (9): 2570–8. doi:10.1093/nar/gkl319. PMC 3303177. PMID 16698963.
  • Eckert D, Buhl S, Weber S, et al. (2005). "The AP-2 family of transcription factors". Genome Biol. 6 (13): 246. doi:10.1186/gb-2005-6-13-246. PMC 1414101. PMID 16420676.
  • Fujimori K, Urade Y (2007). "Cooperative activation of lipocalin-type prostaglandin D synthase gene expression by activator protein-2beta in proximal promoter and upstream stimulatory factor 1 within intron 4 in human brain-derived TE671 cells". Gene. 397 (1–2): 143–52. doi:10.1016/j.gene.2007.04.029. PMID 17574780.
  • Ebauer M, Wachtel M, Niggli FK, Schäfer BW (2007). "Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR". Oncogene. 26 (51): 7267–81. doi:10.1038/sj.onc.1210525. PMID 17525748. S2CID 23874584.
  • Nilsson KW, Damberg M, Ohrvik J, et al. (2007). "Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance". Neurosci. Lett. 411 (3): 233–7. doi:10.1016/j.neulet.2006.10.051. PMID 17123722. S2CID 24891530.
  • Ikeda K, Maegawa H, Ugi S, et al. (2006). "Transcription factor activating enhancer-binding protein-2beta. A negative regulator of adiponectin gene expression". J. Biol. Chem. 281 (42): 31245–53. doi:10.1074/jbc.M605132200. PMID 16954217.
  • Deng WG, Jayachandran G, Wu G, et al. (2007). "Tumor-specific activation of human telomerase reverses transcriptase promoter activity by activating enhancer-binding protein-2beta in human lung cancer cells". J. Biol. Chem. 282 (36): 26460–70. doi:10.1074/jbc.M610579200. PMID 17630431.
  • Nilsson KW, Sjöberg RL, Leppert J, et al. (2009). "Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology". J Neural Transm. 116 (3): 363–70. doi:10.1007/s00702-009-0183-3. PMID 19184334. S2CID 8439300.
  • Maeda S, Tsukada S, Kanazawa A, et al. (2005). "Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus". J. Hum. Genet. 50 (6): 283–92. doi:10.1007/s10038-005-0253-9. PMID 15940393.

External links

  • TFAP2B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • GeneReviews/NCBI/NIH/UW entry on Char Syndrome

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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