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 13-SEP-2023, entry version 205. 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; 159. DR IntAct; O43167; 96. DR MINT; O43167; -. DR STRING; 9606.ENSP00000230122; -. DR ChEMBL; CHEMBL5069371; -. 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 ProteomicsDB; 48785; -. [O43167-1] DR ProteomicsDB; 48786; -. [O43167-2] DR ABCD; O43167; 5 sequenced antibodies. DR Antibodypedia; 56124; 137 antibodies from 25 providers. DR DNASU; 9841; -. DR Ensembl; ENST00000230122.4; ENSP00000230122.4; ENSG00000112365.6. [O43167-1] DR Ensembl; ENST00000698516.1; ENSP00000513766.1; ENSG00000112365.6. [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 AGR; HGNC:21143; -. 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; EQISNHH; -. DR OrthoDB; 5350085at2759; -. DR PhylomeDB; O43167; -. DR TreeFam; TF332049; -. DR PathwayCommons; O43167; -. DR SignaLink; O43167; -. DR BioGRID-ORCS; 9841; 19 hits in 1213 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 CDD; cd18212; BTB_POZ_ZBTB24_ZNF450; 1. DR Gene3D; 3.30.160.60; Classic Zinc Finger; 8. 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 PANTHER; PTHR24394; ZINC FINGER PROTEIN; 1. DR PANTHER; PTHR24394:SF27; ZINC FINGER PROTEIN 791; 1. DR Pfam; PF00651; BTB; 1. DR Pfam; PF00096; zf-C2H2; 8. DR SMART; SM00225; BTB; 1. DR SMART; SM00355; ZnF_C2H2; 8. DR SUPFAM; SSF57667; beta-beta-alpha zinc fingers; 4. DR SUPFAM; SSF54695; POZ domain; 1. 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 //