AP2D_HUMAN
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 03-AUG-2022, entry version 132.
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; 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; A8MTA8-2: FAM166B; NbExp=3; IntAct=EBI-11952651, EBI-12160437;
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; O43609: SPRY1; NbExp=3; IntAct=EBI-11952651, EBI-3866665;
CC Q7Z6R9; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11952651, EBI-11139477;
CC Q7Z6R9; Q96LM6: TEX37; NbExp=3; IntAct=EBI-11952651, EBI-743976;
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";
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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; 110.
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; Q7Z6R9; -.
DR PeptideAtlas; Q7Z6R9; -.
DR PRIDE; Q7Z6R9; -.
DR ProteomicsDB; 69455; -.
DR Antibodypedia; 30864; 142 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 CTD; 83741; -.
DR DisGeNET; 83741; -.
DR GeneCards; TFAP2D; -.
DR HGNC; HGNC:15581; TFAP2D.
DR HPA; ENSG00000008197; Tissue enriched (brain).
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; GHTNSEK; -.
DR OrthoDB; 641707at2759; -.
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 BioGRID-ORCS; 83741; 14 hits in 1031 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 22 other tissues.
DR Genevisible; Q7Z6R9; HS.
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; PTHR10812; 1.
DR Pfam; PF03299; TF_AP-2; 1.
DR PRINTS; PR01748; AP2TNSCPFCT.
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
