ID AP2D_HUMAN Reviewed; 452 AA. AC Q7Z6R9; Q8IWX0; DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-2003, sequence version 1. DT 24-JAN-2024, entry version 140. DE RecName: Full=Transcription factor AP-2-delta; DE Short=AP2-delta; DE AltName: Full=Activating enhancer-binding protein 2-delta; DE AltName: Full=Transcription factor AP-2-beta-like 1; GN Name=TFAP2D {ECO:0000312|HGNC:HGNC:15581}; GN Synonyms=TFAP2BL1 {ECO:0000303|PubMed:11733187}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] {ECO:0000305, ECO:0000312|EMBL:AAK16926.1} RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY. RX PubMed=11733187; DOI=10.1016/s1357-2725(01)00098-x; RA Cheng C., Ying K., Xu M., Zhao W., Zhou Z., Huang Y., Wang W., Xu J., RA Zeng L., Xie Y., Mao Y.; RT "Cloning and characterization of a novel human transcription factor AP-2 RT beta like gene (TFAP2BL1)."; RL Int. J. Biochem. Cell Biol. 34:78-86(2002). RN [2] {ECO:0000312|EMBL:AL031224} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=14574404; DOI=10.1038/nature02055; RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., RA Rogers J., Beck S.; RT "The DNA sequence and analysis of human chromosome 6."; RL Nature 425:805-811(2003). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [4] {ECO:0000305} RP VARIANT [LARGE SCALE ANALYSIS] PHE-214. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: Sequence-specific DNA-binding protein that interacts with CC inducible viral and cellular enhancer elements to regulate CC transcription of selected genes. AP-2 factors bind to the consensus CC sequence 5'-GCCNNNGGC-3' and activate genes involved in a large CC spectrum of important biological functions including proper eye, face, CC body wall, limb and neural tube development. They also suppress a CC number of genes including MCAM/MUC18, C/EBP alpha and MYC (By CC similarity). {ECO:0000250}. CC -!- SUBUNIT: Binds DNA as a dimer. Can form homodimers or heterodimers with CC other AP-2 family members (By similarity). CC {ECO:0000250|UniProtKB:Q91ZK0}. CC -!- INTERACTION: CC Q7Z6R9; O43184-4: ADAM12; NbExp=3; IntAct=EBI-11952651, EBI-12006944; CC Q7Z6R9; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11952651, EBI-10173507; CC Q7Z6R9; O95994: AGR2; NbExp=3; IntAct=EBI-11952651, EBI-712648; CC Q7Z6R9; Q9ULX6: AKAP8L; NbExp=3; IntAct=EBI-11952651, EBI-357530; CC Q7Z6R9; O95429: BAG4; NbExp=5; IntAct=EBI-11952651, EBI-2949658; CC Q7Z6R9; Q9UQM7: CAMK2A; NbExp=3; IntAct=EBI-11952651, EBI-1383687; CC Q7Z6R9; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-11952651, EBI-3866279; CC Q7Z6R9; Q6NVV7: CDPF1; NbExp=3; IntAct=EBI-11952651, EBI-2802782; CC Q7Z6R9; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-11952651, EBI-742887; CC Q7Z6R9; A8MTA8-2: CIMIP2B; NbExp=3; IntAct=EBI-11952651, EBI-12160437; CC Q7Z6R9; Q9BYD5: CNFN; NbExp=3; IntAct=EBI-11952651, EBI-12819063; CC Q7Z6R9; P67870: CSNK2B; NbExp=3; IntAct=EBI-11952651, EBI-348169; CC Q7Z6R9; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11952651, EBI-3867333; CC Q7Z6R9; Q92567-2: FAM168A; NbExp=3; IntAct=EBI-11952651, EBI-11978259; CC Q7Z6R9; Q96NT3-2: GUCD1; NbExp=5; IntAct=EBI-11952651, EBI-11978177; CC Q7Z6R9; P13807: GYS1; NbExp=3; IntAct=EBI-11952651, EBI-740553; CC Q7Z6R9; P35452-2: HOXD12; NbExp=3; IntAct=EBI-11952651, EBI-17244356; CC Q7Z6R9; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-11952651, EBI-747204; CC Q7Z6R9; Q0VD86: INCA1; NbExp=5; IntAct=EBI-11952651, EBI-6509505; CC Q7Z6R9; Q9BS75: KLHL20; NbExp=3; IntAct=EBI-11952651, EBI-10693436; CC Q7Z6R9; Q5T749: KPRP; NbExp=3; IntAct=EBI-11952651, EBI-10981970; CC Q7Z6R9; Q15323: KRT31; NbExp=3; IntAct=EBI-11952651, EBI-948001; CC Q7Z6R9; O76011: KRT34; NbExp=3; IntAct=EBI-11952651, EBI-1047093; CC Q7Z6R9; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-11952651, EBI-11959885; CC Q7Z6R9; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11952651, EBI-11749135; CC Q7Z6R9; P60409: KRTAP10-7; NbExp=5; IntAct=EBI-11952651, EBI-10172290; CC Q7Z6R9; P60410: KRTAP10-8; NbExp=5; IntAct=EBI-11952651, EBI-10171774; CC Q7Z6R9; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-11952651, EBI-1052037; CC Q7Z6R9; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-11952651, EBI-11953334; CC Q7Z6R9; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-11952651, EBI-11992140; CC Q7Z6R9; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-11952651, EBI-12196745; CC Q7Z6R9; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-11952651, EBI-12805508; CC Q7Z6R9; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-11952651, EBI-10241353; CC Q7Z6R9; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-11952651, EBI-14065470; CC Q7Z6R9; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-11952651, EBI-3957672; CC Q7Z6R9; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-11952651, EBI-12111050; CC Q7Z6R9; Q3LI66: KRTAP6-2; NbExp=5; IntAct=EBI-11952651, EBI-11962084; CC Q7Z6R9; Q8IUC3: KRTAP7-1; NbExp=3; IntAct=EBI-11952651, EBI-18394498; CC Q7Z6R9; Q9BYQ4: KRTAP9-2; NbExp=5; IntAct=EBI-11952651, EBI-1044640; CC Q7Z6R9; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-11952651, EBI-1043191; CC Q7Z6R9; P40692: MLH1; NbExp=5; IntAct=EBI-11952651, EBI-744248; CC Q7Z6R9; O43482: OIP5; NbExp=5; IntAct=EBI-11952651, EBI-536879; CC Q7Z6R9; P78337: PITX1; NbExp=3; IntAct=EBI-11952651, EBI-748265; CC Q7Z6R9; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-11952651, EBI-949255; CC Q7Z6R9; P28070: PSMB4; NbExp=3; IntAct=EBI-11952651, EBI-603350; CC Q7Z6R9; Q9Y4B4: RAD54L2; NbExp=3; IntAct=EBI-11952651, EBI-948156; CC Q7Z6R9; O15304-2: SIVA1; NbExp=3; IntAct=EBI-11952651, EBI-12372219; CC Q7Z6R9; Q8ND83: SLAIN1; NbExp=3; IntAct=EBI-11952651, EBI-10269374; CC Q7Z6R9; Q96LM6: SPMIP9; NbExp=3; IntAct=EBI-11952651, EBI-743976; CC Q7Z6R9; O43609: SPRY1; NbExp=3; IntAct=EBI-11952651, EBI-3866665; CC Q7Z6R9; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11952651, EBI-11139477; CC Q7Z6R9; Q08117-2: TLE5; NbExp=5; IntAct=EBI-11952651, EBI-11741437; CC Q7Z6R9; Q63HR2: TNS2; NbExp=3; IntAct=EBI-11952651, EBI-949753; CC Q7Z6R9; Q13077: TRAF1; NbExp=3; IntAct=EBI-11952651, EBI-359224; CC Q7Z6R9; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-11952651, EBI-5235829; CC Q7Z6R9; Q86WV8: TSC1; NbExp=3; IntAct=EBI-11952651, EBI-12806590; CC Q7Z6R9; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-11952651, EBI-11975223; CC Q7Z6R9; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-11952651, EBI-2559305; CC Q7Z6R9; A0A0C4DGF1: ZBTB32; NbExp=3; IntAct=EBI-11952651, EBI-10188476; CC Q7Z6R9; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-11952651, EBI-12030590; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. CC -!- TISSUE SPECIFICITY: Highly expressed in brain, placenta, skeletal CC muscle, thymus, small intestine, and prostate, and expressed at lower CC levels in leukocyte, spleen, testis, ovary and colon. Barely detectable CC in heart, kidney, liver, lung or pancreas. CC {ECO:0000269|PubMed:11733187}. CC -!- SIMILARITY: Belongs to the AP-2 family. {ECO:0000255}. CC -!- WEB RESOURCE: Name=Wikipedia; Note=Activating protein 2 entry; CC URL="https://en.wikipedia.org/wiki/Activating_protein_2"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY028376; AAK16926.1; -; mRNA. DR EMBL; AL031224; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471081; EAX04354.1; -; Genomic_DNA. DR CCDS; CCDS4933.1; -. DR RefSeq; NP_758438.2; NM_172238.3. DR AlphaFoldDB; Q7Z6R9; -. DR SMR; Q7Z6R9; -. DR BioGRID; 123749; 112. DR IntAct; Q7Z6R9; 61. DR STRING; 9606.ENSP00000008391; -. DR iPTMnet; Q7Z6R9; -. DR PhosphoSitePlus; Q7Z6R9; -. DR BioMuta; TFAP2D; -. DR DMDM; 74750179; -. DR EPD; Q7Z6R9; -. DR MassIVE; Q7Z6R9; -. DR MaxQB; Q7Z6R9; -. DR PaxDb; 9606-ENSP00000008391; -. DR PeptideAtlas; Q7Z6R9; -. DR ProteomicsDB; 69455; -. DR Pumba; Q7Z6R9; -. DR Antibodypedia; 30864; 151 antibodies from 25 providers. DR DNASU; 83741; -. DR Ensembl; ENST00000008391.4; ENSP00000008391.4; ENSG00000008197.5. DR GeneID; 83741; -. DR KEGG; hsa:83741; -. DR MANE-Select; ENST00000008391.4; ENSP00000008391.4; NM_172238.4; NP_758438.2. DR UCSC; uc003paf.4; human. DR AGR; HGNC:15581; -. DR CTD; 83741; -. DR DisGeNET; 83741; -. DR GeneCards; TFAP2D; -. DR HGNC; HGNC:15581; TFAP2D. DR HPA; ENSG00000008197; Not detected. DR MIM; 610161; gene. DR neXtProt; NX_Q7Z6R9; -. DR OpenTargets; ENSG00000008197; -. DR PharmGKB; PA37984; -. DR VEuPathDB; HostDB:ENSG00000008197; -. DR eggNOG; KOG3811; Eukaryota. DR GeneTree; ENSGT00950000182848; -. DR HOGENOM; CLU_035175_5_0_1; -. DR InParanoid; Q7Z6R9; -. DR OMA; HYEFQHG; -. DR OrthoDB; 2883153at2759; -. DR PhylomeDB; Q7Z6R9; -. DR TreeFam; TF313718; -. DR PathwayCommons; Q7Z6R9; -. DR Reactome; R-HSA-8866904; Negative regulation of activity of TFAP2 (AP-2) family transcription factors. DR Reactome; R-HSA-8866907; Activation of the TFAP2 (AP-2) family of transcription factors. DR SignaLink; Q7Z6R9; -. DR SIGNOR; Q7Z6R9; -. DR BioGRID-ORCS; 83741; 16 hits in 1092 CRISPR screens. DR GenomeRNAi; 83741; -. DR Pharos; Q7Z6R9; Tdark. DR PRO; PR:Q7Z6R9; -. DR Proteomes; UP000005640; Chromosome 6. DR RNAct; Q7Z6R9; Protein. DR Bgee; ENSG00000008197; Expressed in oocyte and 23 other cell types or tissues. DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB. DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central. DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central. DR GO; GO:0061379; P:inferior colliculus development; IEA:Ensembl. DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; IEA:Ensembl. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0042127; P:regulation of cell population proliferation; IBA:GO_Central. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl. DR InterPro; IPR004979; TF_AP2. DR InterPro; IPR013854; TF_AP2_C. DR PANTHER; PTHR10812; TRANSCRIPTION FACTOR AP-2; 1. DR PANTHER; PTHR10812:SF5; TRANSCRIPTION FACTOR AP-2-DELTA; 1. DR Pfam; PF03299; TF_AP-2; 1. DR PRINTS; PR01748; AP2TNSCPFCT. DR Genevisible; Q7Z6R9; HS. PE 1: Evidence at protein level; KW Activator; DNA-binding; Nucleus; Phosphoprotein; Reference proteome; KW Transcription; Transcription regulation. FT CHAIN 1..452 FT /note="Transcription factor AP-2-delta" FT /id="PRO_0000309513" FT REGION 280..410 FT /note="H-S-H (helix-span-helix), dimerization" FT /evidence="ECO:0000255" FT REGION 416..452 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 433..452 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 239 FT /note="Phosphoserine; by PKA" FT /evidence="ECO:0000250|UniProtKB:P05549" FT VARIANT 214 FT /note="V -> F (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036975" FT CONFLICT 16 FT /note="H -> Y (in Ref. 1; AAK16926)" FT /evidence="ECO:0000305" FT CONFLICT 167 FT /note="S -> N (in Ref. 1; AAK16926)" FT /evidence="ECO:0000305" SQ SEQUENCE 452 AA; 49578 MW; 6623612B172A59EA CRC64; MSTTFPGLVH DAEIRHDGSN SYRLMQLGCL ESVANSTVAY SSSSPLTYST TGTEFASPYF STNHQYTPLH HQSFHYEFQH SHPAVTPDAY SLNSLHHSQQ YYQQIHHGEP TDFINLHNAR ALKSSCLDEQ RRELGCLDAY RRHDLSLMSH GSQYGMHPDQ RLLPGPSLGL AAAGADDLQG SVEAQCGLVL NGQGGVIRRG GTCVVNPTDL FCSVPGRLSL LSSTSKYKVT IAEVKRRLSP PECLNASLLG GILRRAKSKN GGRCLREKLD RLGLNLPAGR RKAANVTLLT SLVEGEALHL ARDFGYTCET EFPAKAVGEH LARQHMEQKE QTARKKMILA TKQICKEFQD LLSQDRSPLG SSRPTPILDL DIQRHLTHFS LITHGFGTPA ICAALSTFQT VLSEMLNYLE KHTTHKNGGA ADSGQGHANS EKAPLRKTSE AAVKEGKTEK TD //