ZBT24_HUMAN
ID ZBT24_HUMAN Reviewed; 697 AA.
AC O43167; Q17RC6; Q5TED5; Q8N455;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2005, sequence version 2.
DT 03-AUG-2022, entry version 199.
DE RecName: Full=Zinc finger and BTB domain-containing protein 24;
DE AltName: Full=Zinc finger protein 450;
GN Name=ZBTB24; Synonyms=KIAA0441, ZNF450;
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]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9455477; DOI=10.1093/dnares/4.5.307;
RA Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VIII. 78
RT new cDNA clones from brain which code for large proteins in vitro.";
RL DNA Res. 4:307-313(1997).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP INTERACTION WITH MN1.
RX PubMed=31839203; DOI=10.1016/j.ajhg.2019.11.011;
RA Miyake N., Takahashi H., Nakamura K., Isidor B., Hiraki Y., Koshimizu E.,
RA Shiina M., Sasaki K., Suzuki H., Abe R., Kimura Y., Akiyama T.,
RA Tomizawa S.I., Hirose T., Hamanaka K., Miyatake S., Mitsuhashi S.,
RA Mizuguchi T., Takata A., Obo K., Kato M., Ogata K., Matsumoto N.;
RT "Gain-of-function MN1 truncation variants cause a recognizable syndrome
RT with craniofacial and brain abnormalities.";
RL Am. J. Hum. Genet. 106:13-25(2020).
RN [6]
RP VARIANT ICF2 GLY-408, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=21596365; DOI=10.1016/j.ajhg.2011.04.018;
RA de Greef J.C., Wang J., Balog J., den Dunnen J.T., Frants R.R.,
RA Straasheijm K.R., Aytekin C., van der Burg M., Duprez L., Ferster A.,
RA Gennery A.R., Gimelli G., Reisli I., Schuetz C., Schulz A., Smeets D.F.,
RA Sznajer Y., Wijmenga C., van Eggermond M.C., van Ostaijen-Ten Dam M.M.,
RA Lankester A.C., van Tol M.J., van den Elsen P.J., Weemaes C.M.,
RA van der Maarel S.M.;
RT "Mutations in ZBTB24 are associated with immunodeficiency, centromeric
RT instability, and facial anomalies syndrome type 2.";
RL Am. J. Hum. Genet. 88:796-804(2011).
CC -!- FUNCTION: May be involved in BMP2-induced transcription. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with MN1. {ECO:0000269|PubMed:31839203}.
CC -!- INTERACTION:
CC O43167; Q9BYV9: BACH2; NbExp=3; IntAct=EBI-744471, EBI-1642333;
CC O43167; Q9H165-2: BCL11A; NbExp=3; IntAct=EBI-744471, EBI-10183342;
CC O43167; Q9H2G9: BLZF1; NbExp=9; IntAct=EBI-744471, EBI-2548012;
CC O43167; Q96LM5: C4orf45; NbExp=3; IntAct=EBI-744471, EBI-12020542;
CC O43167; O95273: CCNDBP1; NbExp=3; IntAct=EBI-744471, EBI-748961;
CC O43167; P32320: CDA; NbExp=6; IntAct=EBI-744471, EBI-9250559;
CC O43167; Q8NHQ1: CEP70; NbExp=6; IntAct=EBI-744471, EBI-739624;
CC O43167; Q8TAP6: CEP76; NbExp=6; IntAct=EBI-744471, EBI-742887;
CC O43167; Q8NEL9-2: DDHD1; NbExp=3; IntAct=EBI-744471, EBI-11062258;
CC O43167; Q92997: DVL3; NbExp=3; IntAct=EBI-744471, EBI-739789;
CC O43167; A0A0C3SFZ9: FCHO1; NbExp=3; IntAct=EBI-744471, EBI-11977403;
CC O43167; Q96IK5: GMCL1; NbExp=3; IntAct=EBI-744471, EBI-2548508;
CC O43167; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-744471, EBI-5916454;
CC O43167; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-744471, EBI-2549423;
CC O43167; Q9UIH9: KLF15; NbExp=10; IntAct=EBI-744471, EBI-2796400;
CC O43167; O00505: KPNA3; NbExp=3; IntAct=EBI-744471, EBI-358297;
CC O43167; Q6A162: KRT40; NbExp=3; IntAct=EBI-744471, EBI-10171697;
CC O43167; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-744471, EBI-10172150;
CC O43167; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-744471, EBI-12012928;
CC O43167; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-744471, EBI-10172290;
CC O43167; P60410: KRTAP10-8; NbExp=6; IntAct=EBI-744471, EBI-10171774;
CC O43167; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-744471, EBI-10172052;
CC O43167; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-744471, EBI-14065470;
CC O43167; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-744471, EBI-10172511;
CC O43167; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-744471, EBI-3958099;
CC O43167; O95751: LDOC1; NbExp=7; IntAct=EBI-744471, EBI-740738;
CC O43167; Q68G74: LHX8; NbExp=3; IntAct=EBI-744471, EBI-8474075;
CC O43167; Q8TBB1: LNX1; NbExp=6; IntAct=EBI-744471, EBI-739832;
CC O43167; Q8N456: LRRC18; NbExp=3; IntAct=EBI-744471, EBI-751373;
CC O43167; D6RGH6: MCIDAS; NbExp=3; IntAct=EBI-744471, EBI-3954372;
CC O43167; Q99750: MDFI; NbExp=11; IntAct=EBI-744471, EBI-724076;
CC O43167; Q9UJV3-2: MID2; NbExp=6; IntAct=EBI-744471, EBI-10172526;
CC O43167; Q5VU43-2: PDE4DIP; NbExp=3; IntAct=EBI-744471, EBI-9640281;
CC O43167; Q8IXK0: PHC2; NbExp=3; IntAct=EBI-744471, EBI-713786;
CC O43167; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-744471, EBI-79165;
CC O43167; Q7Z3K3: POGZ; NbExp=8; IntAct=EBI-744471, EBI-1389308;
CC O43167; P78424: POU6F2; NbExp=3; IntAct=EBI-744471, EBI-12029004;
CC O43167; Q53GL6: RALY; NbExp=3; IntAct=EBI-744471, EBI-9512693;
CC O43167; P98175: RBM10; NbExp=3; IntAct=EBI-744471, EBI-721525;
CC O43167; Q9Y2D8: SSX2IP; NbExp=3; IntAct=EBI-744471, EBI-2212028;
CC O43167; Q08117: TLE5; NbExp=3; IntAct=EBI-744471, EBI-717810;
CC O43167; Q08117-2: TLE5; NbExp=3; IntAct=EBI-744471, EBI-11741437;
CC O43167; Q9BTD3: TMEM121; NbExp=3; IntAct=EBI-744471, EBI-12155101;
CC O43167; Q12933: TRAF2; NbExp=3; IntAct=EBI-744471, EBI-355744;
CC O43167; O94972: TRIM37; NbExp=3; IntAct=EBI-744471, EBI-741602;
CC O43167; Q8WV44: TRIM41; NbExp=6; IntAct=EBI-744471, EBI-725997;
CC O43167; Q9Y3Q8: TSC22D4; NbExp=6; IntAct=EBI-744471, EBI-739485;
CC O43167; Q9BZW7: TSGA10; NbExp=3; IntAct=EBI-744471, EBI-744794;
CC O43167; Q9H2G4: TSPYL2; NbExp=3; IntAct=EBI-744471, EBI-947459;
CC O43167; O43298: ZBTB43; NbExp=3; IntAct=EBI-744471, EBI-740718;
CC O43167; Q96BR9: ZBTB8A; NbExp=6; IntAct=EBI-744471, EBI-742740;
CC O43167; Q96C00: ZBTB9; NbExp=3; IntAct=EBI-744471, EBI-395708;
CC O43167; O95789-4: ZMYM6; NbExp=3; IntAct=EBI-744471, EBI-12949277;
CC O43167; Q8TF50: ZNF526; NbExp=3; IntAct=EBI-744471, EBI-11035148;
CC O43167; Q9UID6: ZNF639; NbExp=3; IntAct=EBI-744471, EBI-947476;
CC O43167; Q9NQZ8: ZNF71; NbExp=4; IntAct=EBI-744471, EBI-7138235;
CC O43167; Q15937: ZNF79; NbExp=3; IntAct=EBI-744471, EBI-10237274;
CC O43167; Q3KQV3: ZNF792; NbExp=3; IntAct=EBI-744471, EBI-10240849;
CC O43167; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-744471, EBI-11962574;
CC O43167; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-744471, EBI-527853;
CC O43167-2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-25842419, EBI-10976677;
CC O43167-2; P28799: GRN; NbExp=3; IntAct=EBI-25842419, EBI-747754;
CC O43167-2; P42858: HTT; NbExp=9; IntAct=EBI-25842419, EBI-466029;
CC O43167-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25842419, EBI-10975473;
CC O43167-2; O60260-5: PRKN; NbExp=3; IntAct=EBI-25842419, EBI-21251460;
CC O43167-2; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-25842419, EBI-396669;
CC O43167-2; P37840: SNCA; NbExp=3; IntAct=EBI-25842419, EBI-985879;
CC O43167-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-25842419, EBI-5235340;
CC O43167-2; Q13148: TARDBP; NbExp=3; IntAct=EBI-25842419, EBI-372899;
CC O43167-2; Q86WV8: TSC1; NbExp=3; IntAct=EBI-25842419, EBI-12806590;
CC O43167-2; O76024: WFS1; NbExp=3; IntAct=EBI-25842419, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O43167-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43167-2; Sequence=VSP_016221, VSP_016222;
CC -!- TISSUE SPECIFICITY: Widely expressed, with highest levels in naive B-
CC cells. {ECO:0000269|PubMed:21596365}.
CC -!- DEVELOPMENTAL STAGE: Regulated expression during B-cell
CC differentiation. Low expression in pro-B cells, pre-B I cells and large
CC pre-B II cells. Levels peak in small pre-B II and then slightly
CC decrease in immature B-cells. Low levels in CD34+ umbilical cord blood
CC cells. {ECO:0000269|PubMed:21596365}.
CC -!- DISEASE: Immunodeficiency-centromeric instability-facial anomalies
CC syndrome 2 (ICF2) [MIM:614069]: A rare disorder characterized by a
CC variable immunodeficiency resulting in recurrent infections, facial
CC anomalies, and branching of chromosomes 1, 9, and 16. Other variable
CC symptoms include growth retardation, failure to thrive, and psychomotor
CC retardation. Laboratory studies show limited hypomethylation of DNA in
CC a small fraction of the genome in some, but not all, patients.
CC {ECO:0000269|PubMed:21596365}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA23713.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Undiagnosed Disease Network; Note=ZBTB24;
CC URL="https://undiagnosed.hms.harvard.edu/updates/genes-of-interest/zbtb24-gene/";
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; AB007901; BAA23713.2; ALT_INIT; mRNA.
DR EMBL; AL109947; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036731; AAH36731.1; -; mRNA.
DR EMBL; BC117374; AAI17375.1; -; mRNA.
DR EMBL; BC117376; AAI17377.1; -; mRNA.
DR CCDS; CCDS34509.1; -. [O43167-1]
DR RefSeq; NP_001157785.1; NM_001164313.1. [O43167-2]
DR RefSeq; NP_055612.2; NM_014797.2. [O43167-1]
DR AlphaFoldDB; O43167; -.
DR SMR; O43167; -.
DR BioGRID; 115177; 157.
DR IntAct; O43167; 96.
DR MINT; O43167; -.
DR STRING; 9606.ENSP00000230122; -.
DR iPTMnet; O43167; -.
DR PhosphoSitePlus; O43167; -.
DR BioMuta; ZBTB24; -.
DR EPD; O43167; -.
DR jPOST; O43167; -.
DR MassIVE; O43167; -.
DR MaxQB; O43167; -.
DR PaxDb; O43167; -.
DR PeptideAtlas; O43167; -.
DR PRIDE; O43167; -.
DR ProteomicsDB; 48785; -. [O43167-1]
DR ProteomicsDB; 48786; -. [O43167-2]
DR ABCD; O43167; 5 sequenced antibodies.
DR Antibodypedia; 56124; 121 antibodies from 25 providers.
DR DNASU; 9841; -.
DR Ensembl; ENST00000230122.4; ENSP00000230122.4; ENSG00000112365.5. [O43167-1]
DR GeneID; 9841; -.
DR KEGG; hsa:9841; -.
DR MANE-Select; ENST00000230122.4; ENSP00000230122.4; NM_014797.3; NP_055612.2.
DR UCSC; uc003ptl.2; human. [O43167-1]
DR CTD; 9841; -.
DR DisGeNET; 9841; -.
DR GeneCards; ZBTB24; -.
DR HGNC; HGNC:21143; ZBTB24.
DR HPA; ENSG00000112365; Low tissue specificity.
DR MalaCards; ZBTB24; -.
DR MIM; 614064; gene.
DR MIM; 614069; phenotype.
DR neXtProt; NX_O43167; -.
DR OpenTargets; ENSG00000112365; -.
DR Orphanet; 2268; ICF syndrome.
DR PharmGKB; PA134904966; -.
DR VEuPathDB; HostDB:ENSG00000112365; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000159373; -.
DR HOGENOM; CLU_024445_0_0_1; -.
DR InParanoid; O43167; -.
DR OMA; QAEQMHV; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; O43167; -.
DR TreeFam; TF332049; -.
DR PathwayCommons; O43167; -.
DR SignaLink; O43167; -.
DR BioGRID-ORCS; 9841; 17 hits in 1136 CRISPR screens.
DR ChiTaRS; ZBTB24; human.
DR GenomeRNAi; 9841; -.
DR Pharos; O43167; Tbio.
DR PRO; PR:O43167; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O43167; protein.
DR Bgee; ENSG00000112365; Expressed in endothelial cell and 172 other tissues.
DR Genevisible; O43167; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF00096; zf-C2H2; 8.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00355; ZnF_C2H2; 8.
DR SUPFAM; SSF54695; SSF54695; 1.
DR SUPFAM; SSF57667; SSF57667; 4.
DR PROSITE; PS50097; BTB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..697
FT /note="Zinc finger and BTB domain-containing protein 24"
FT /id="PRO_0000047734"
FT DOMAIN 10..133
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DNA_BIND 159..171
FT /note="A.T hook"
FT ZN_FING 294..316
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 322..344
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 350..372
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 378..400
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 406..428
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 434..456
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 462..484
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 490..512
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 131..176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 209..254
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 652..697
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 131..148
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 210..243
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 657..672
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 674..688
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 319..333
FT /note="ERPFKCNECGKGFAQ -> NDVFKADCSVLQNWE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_016221"
FT VAR_SEQ 334..697
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_016222"
FT VARIANT 408
FT /note="C -> G (in ICF2; dbSNP:rs387907105)"
FT /evidence="ECO:0000269|PubMed:21596365"
FT /id="VAR_065846"
FT VARIANT 518
FT /note="A -> T (in dbSNP:rs2232448)"
FT /id="VAR_057458"
FT CONFLICT 151
FT /note="S -> P (in Ref. 1; BAA23713)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 697 AA; 78282 MW; F2BD331E748CB494 CRC64;
MAETSPEPSG QLVVHSDAHS DTVLASFEDQ RKKGFLCDIT LIVENVHFRA HKALLAASSE
YFSMMFAEEG EIGQSIYMLE GMVADTFGIL LEFIYTGYLH ASEKSTEQIL ATAQFLKVYD
LVKAYTDFQN NHSSPKPTTL NTAGAPVVVI SNKKNDPPKR KRGRPKKVNT LQEEKSELAA
EEEIQLRVNN SVQNRQNFVV KGDSGVLNEQ IAAKEKEESE PTCEPSREEE MPVEKDENYD
PKTEDGQASQ SRYSKRRIWR SVKLKDYKLV GDQEDHGSAK RICGRRKRPG GPEARCKDCG
KVFKYNHFLA IHQRSHTGER PFKCNECGKG FAQKHSLQVH TRMHTGERPY TCTVCSKALT
TKHSLLEHMS LHSGQKSFTC DQCGKYFSQN RQLKSHYRVH TGHSLPECKD CHRKFMDVSQ
LKKHLRTHTG EKPFTCEICG KSFTAKSSLQ THIRIHRGEK PYSCGICGKS FSDSSAKRRH
CILHTGKKPF SCPECNLQFA RLDNLKAHLK IHSKEKHASD ASSISGSSNT EEVRNILQLQ
PYQLSTSGEQ EIQLLVTDSV HNINFMPGPS QGISIVTAES SQNMTADQAA NLTLLTQQPE
QLQNLILSAQ QEQTEHIQSL NMIESQMGPS QTEPVHVITL SKETLEHLHA HQEQTEELHL
ATSTSDPAQH LQLTQEPGPP PPTHHVPQPT PLGQEQS