TBX6_HUMAN
ID TBX6_HUMAN Reviewed; 436 AA.
AC O95947; Q8TAS4; Q9HA44;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=T-box transcription factor TBX6;
DE Short=T-box protein 6;
GN Name=TBX6;
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 [MRNA] (ISOFORM 1).
RX PubMed=9933572; DOI=10.1006/geno.1998.5646;
RA Papapetrou C., Putt W., Fox M., Edwards Y.H.;
RT "The human TBX6 gene: cloning and assignment to chromosome 16p11.2.";
RL Genomics 55:238-241(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Mammary gland;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 135-272.
RC TISSUE=Myeloid;
RX PubMed=9888994; DOI=10.1006/geno.1998.5632;
RA Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A.,
RA Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.;
RT "Identification, mapping and phylogenomic analysis of four new human
RT members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.";
RL Genomics 55:10-20(1999).
RN [7]
RP INVOLVEMENT IN SCDO5.
RX PubMed=23335591; DOI=10.1093/hmg/ddt012;
RA Sparrow D.B., McInerney-Leo A., Gucev Z.S., Gardiner B., Marshall M.,
RA Leo P.J., Chapman D.L., Tasic V., Shishko A., Brown M.A., Duncan E.L.,
RA Dunwoodie S.L.;
RT "Autosomal dominant spondylocostal dysostosis is caused by mutation in
RT TBX6.";
RL Hum. Mol. Genet. 22:1625-1631(2013).
RN [8]
RP VARIANT SCDO5 LEU-145.
RX PubMed=25564734; DOI=10.1056/nejmoa1406829;
RA Wu N., Ming X., Xiao J., Wu Z., Chen X., Shinawi M., Shen Y., Yu G.,
RA Liu J., Xie H., Gucev Z.S., Liu S., Yang N., Al-Kateb H., Chen J.,
RA Zhang J., Hauser N., Zhang T., Tasic V., Liu P., Su X., Pan X., Liu C.,
RA Wang L., Shen J., Shen J., Chen Y., Zhang T., Zhang J., Choy K.W., Wang J.,
RA Wang Q., Li S., Zhou W., Guo J., Wang Y., Zhang C., Zhao H., An Y.,
RA Zhao Y., Wang J., Liu Z., Zuo Y., Tian Y., Weng X., Sutton V.R., Wang H.,
RA Ming Y., Kulkarni S., Zhong T.P., Giampietro P.F., Dunwoodie S.L.,
RA Cheung S.W., Zhang X., Jin L., Lupski J.R., Qiu G., Zhang F.;
RT "TBX6 null variants and a common hypomorphic allele in congenital
RT scoliosis.";
RL N. Engl. J. Med. 372:341-350(2015).
RN [9]
RP VARIANTS CONGENITAL SCOLIOSIS ILE-111 AND CYS-150, AND CHARACTERIZATION OF
RP VARIANTS CONGENITAL SCOLIOSIS ILE-111 AND CYS-150.
RX PubMed=28054739; DOI=10.1002/humu.23168;
RG Japan Early Onset Scoliosis Research Group;
RA Takeda K., Kou I., Kawakami N., Iida A., Nakajima M., Ogura Y., Imagawa E.,
RA Miyake N., Matsumoto N., Yasuhiko Y., Sudo H., Kotani T., Nakamura M.,
RA Matsumoto M., Watanabe K., Ikegawa S.;
RT "Compound heterozygosity for null mutations and a common hypomorphic risk
RT haplotype in TBX6 causes congenital scoliosis.";
RL Hum. Mutat. 38:317-323(2017).
CC -!- FUNCTION: T-box transcription factor that plays an essential role in
CC the determination of the fate of axial stem cells: neural vs
CC mesodermal. Acts in part by down-regulating, a specific enhancer (N1)
CC of SOX2, to inhibit neural development. Seems to play also an essential
CC role in left/right axis determination and acts through effects on Notch
CC signaling around the node as well as through an effect on the
CC morphology and motility of the nodal cilia (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Forms a dimeric complex with DNA (in vitro).
CC -!- INTERACTION:
CC O95947; Q5SWW7: C10orf55; NbExp=3; IntAct=EBI-2824328, EBI-12809220;
CC O95947; Q5BKX5-3: C19orf54; NbExp=3; IntAct=EBI-2824328, EBI-11976299;
CC O95947; Q6P1W5: C1orf94; NbExp=4; IntAct=EBI-2824328, EBI-946029;
CC O95947; O43186: CRX; NbExp=3; IntAct=EBI-2824328, EBI-748171;
CC O95947; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2824328, EBI-3867333;
CC O95947; Q15038: DAZAP2; NbExp=3; IntAct=EBI-2824328, EBI-724310;
CC O95947; Q96LI6: HSFY2; NbExp=7; IntAct=EBI-2824328, EBI-3957665;
CC O95947; Q5TA45: INTS11; NbExp=3; IntAct=EBI-2824328, EBI-748258;
CC O95947; Q96G42: KLHDC7B; NbExp=3; IntAct=EBI-2824328, EBI-9478422;
CC O95947; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-2824328, EBI-1052037;
CC O95947; Q3LI66: KRTAP6-2; NbExp=5; IntAct=EBI-2824328, EBI-11962084;
CC O95947; P13473-2: LAMP2; NbExp=3; IntAct=EBI-2824328, EBI-21591415;
CC O95947; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-2824328, EBI-716006;
CC O95947; Q8N6F8: METTL27; NbExp=3; IntAct=EBI-2824328, EBI-8487781;
CC O95947; O15496: PLA2G10; NbExp=3; IntAct=EBI-2824328, EBI-726466;
CC O95947; Q16633: POU2AF1; NbExp=3; IntAct=EBI-2824328, EBI-943588;
CC O95947; P78424: POU6F2; NbExp=3; IntAct=EBI-2824328, EBI-12029004;
CC O95947; P86480: PRR20D; NbExp=3; IntAct=EBI-2824328, EBI-12754095;
CC O95947; Q93062: RBPMS; NbExp=3; IntAct=EBI-2824328, EBI-740322;
CC O95947; Q93062-3: RBPMS; NbExp=4; IntAct=EBI-2824328, EBI-740343;
CC O95947; Q96SF7: TBX15; NbExp=3; IntAct=EBI-2824328, EBI-10191361;
CC O95947; O60806: TBX19; NbExp=3; IntAct=EBI-2824328, EBI-12096770;
CC O95947; Q9NUJ3: TCP11L1; NbExp=3; IntAct=EBI-2824328, EBI-2555179;
CC O95947; Q96A09: TENT5B; NbExp=3; IntAct=EBI-2824328, EBI-752030;
CC O95947; Q08117-2: TLE5; NbExp=3; IntAct=EBI-2824328, EBI-11741437;
CC O95947; O94842: TOX4; NbExp=7; IntAct=EBI-2824328, EBI-948613;
CC O95947; Q86WV8: TSC1; NbExp=3; IntAct=EBI-2824328, EBI-12806590;
CC O95947; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-2824328, EBI-741480;
CC O95947; P31930: UQCRC1; NbExp=3; IntAct=EBI-2824328, EBI-1052596;
CC O95947; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-2824328, EBI-11975223;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O95947-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95947-2; Sequence=VSP_054003, VSP_054004;
CC -!- TISSUE SPECIFICITY: Expressed in fetal tail bud, posterior spinal
CC tissue, intervertebral disk and testis. Also expressed in adult testis,
CC kidney, lung, muscle and thymus.
CC -!- DEVELOPMENTAL STAGE: Expressed during gastrulation and during a second
CC phase in some adult tissues.
CC -!- DISEASE: Spondylocostal dysostosis 5 (SCDO5) [MIM:122600]: A rare
CC condition of variable severity characterized by vertebral and costal
CC anomalies. The main feature include dwarfism, vertebral fusion,
CC hemivertebrae, posterior rib fusion, reduced rib number, and other rib
CC malformations. SCDO5 inheritance can be autosomal dominant or
CC recessive. {ECO:0000269|PubMed:23335591, ECO:0000269|PubMed:25564734}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; AJ007989; CAA07812.1; -; mRNA.
DR EMBL; AK022330; BAB14014.1; -; mRNA.
DR EMBL; AC012645; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093512; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471238; EAW79927.1; -; Genomic_DNA.
DR EMBL; BC026031; AAH26031.1; -; mRNA.
DR EMBL; AJ010279; CAB37938.1; -; Genomic_DNA.
DR CCDS; CCDS10670.1; -. [O95947-1]
DR RefSeq; NP_004599.2; NM_004608.3. [O95947-1]
DR RefSeq; XP_005255580.1; XM_005255523.2. [O95947-1]
DR RefSeq; XP_011544228.1; XM_011545926.2. [O95947-1]
DR RefSeq; XP_016879103.1; XM_017023614.1. [O95947-1]
DR AlphaFoldDB; O95947; -.
DR SMR; O95947; -.
DR BioGRID; 112774; 39.
DR IntAct; O95947; 31.
DR MINT; O95947; -.
DR STRING; 9606.ENSP00000378650; -.
DR PhosphoSitePlus; O95947; -.
DR BioMuta; TBX6; -.
DR PaxDb; O95947; -.
DR PeptideAtlas; O95947; -.
DR PRIDE; O95947; -.
DR ProteomicsDB; 51140; -. [O95947-1]
DR ProteomicsDB; 81374; -.
DR Antibodypedia; 13514; 391 antibodies from 31 providers.
DR DNASU; 6911; -.
DR Ensembl; ENST00000279386.6; ENSP00000279386.2; ENSG00000149922.12. [O95947-1]
DR Ensembl; ENST00000395224.7; ENSP00000378650.2; ENSG00000149922.12. [O95947-1]
DR Ensembl; ENST00000553607.1; ENSP00000461223.1; ENSG00000149922.12. [O95947-2]
DR Ensembl; ENST00000567664.5; ENSP00000460425.1; ENSG00000149922.12. [O95947-2]
DR GeneID; 6911; -.
DR KEGG; hsa:6911; -.
DR MANE-Select; ENST00000395224.7; ENSP00000378650.2; NM_004608.4; NP_004599.2.
DR UCSC; uc002dwk.1; human. [O95947-1]
DR CTD; 6911; -.
DR DisGeNET; 6911; -.
DR GeneCards; TBX6; -.
DR GeneReviews; TBX6; -.
DR HGNC; HGNC:11605; TBX6.
DR HPA; ENSG00000149922; Tissue enhanced (esophagus).
DR MalaCards; TBX6; -.
DR MIM; 122600; phenotype.
DR MIM; 602427; gene.
DR neXtProt; NX_O95947; -.
DR OpenTargets; ENSG00000149922; -.
DR Orphanet; 1797; Autosomal dominant spondylocostal dysostosis.
DR PharmGKB; PA36368; -.
DR VEuPathDB; HostDB:ENSG00000149922; -.
DR eggNOG; KOG3585; Eukaryota.
DR GeneTree; ENSGT00940000160732; -.
DR HOGENOM; CLU_052181_0_0_1; -.
DR InParanoid; O95947; -.
DR OMA; EPVIMEN; -.
DR OrthoDB; 828211at2759; -.
DR PhylomeDB; O95947; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; O95947; -.
DR SignaLink; O95947; -.
DR BioGRID-ORCS; 6911; 13 hits in 1091 CRISPR screens.
DR GenomeRNAi; 6911; -.
DR Pharos; O95947; Tbio.
DR PRO; PR:O95947; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; O95947; protein.
DR Bgee; ENSG00000149922; Expressed in lower esophagus mucosa and 115 other tissues.
DR ExpressionAtlas; O95947; baseline and differential.
DR Genevisible; O95947; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; ISS:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0003205; P:cardiac chamber development; IBA:GO_Central.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0001947; P:heart looping; IBA:GO_Central.
DR GO; GO:0007498; P:mesoderm development; TAS:ProtInc.
DR GO; GO:0007501; P:mesodermal cell fate specification; IEA:Ensembl.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; ISS:BHF-UCL.
DR GO; GO:0014043; P:negative regulation of neuron maturation; IEA:Ensembl.
DR GO; GO:0010977; P:negative regulation of neuron projection development; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
DR GO; GO:0032525; P:somite rostral/caudal axis specification; IEA:Ensembl.
DR CDD; cd00182; TBOX; 1.
DR Gene3D; 2.60.40.820; -; 1.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR046360; T-box_DNA-bd.
DR InterPro; IPR036960; T-box_sf.
DR InterPro; IPR002070; TF_Brachyury.
DR InterPro; IPR001699; TF_T-box.
DR InterPro; IPR018186; TF_T-box_CS.
DR PANTHER; PTHR11267; PTHR11267; 1.
DR Pfam; PF00907; T-box; 1.
DR PRINTS; PR00938; BRACHYURY.
DR PRINTS; PR00937; TBOX.
DR SMART; SM00425; TBOX; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS01283; TBOX_1; 1.
DR PROSITE; PS01264; TBOX_2; 1.
DR PROSITE; PS50252; TBOX_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Dwarfism;
KW Nucleus; Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..436
FT /note="T-box transcription factor TBX6"
FT /id="PRO_0000184438"
FT DNA_BIND 100..273
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 271..339
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 360..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 273..294
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 281..294
FT /note="ERDARVKRKLRGPE -> WELFIHLFMHSTNV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054003"
FT VAR_SEQ 295..435
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054004"
FT VARIANT 111
FT /note="M -> I (in congenital scoliosis; unknown
FT pathological significance; decreases transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:28054739"
FT /id="VAR_078494"
FT VARIANT 145
FT /note="P -> L (in SCDO5; unknown pathological significance;
FT dbSNP:rs202193096)"
FT /evidence="ECO:0000269|PubMed:25564734"
FT /id="VAR_078495"
FT VARIANT 150
FT /note="R -> C (in congenital scoliosis; unknown
FT pathological significance; not change transcriptional
FT activity; dbSNP:rs949681104)"
FT /evidence="ECO:0000269|PubMed:28054739"
FT /id="VAR_078496"
FT VARIANT 162
FT /note="G -> S (in dbSNP:rs56098093)"
FT /id="VAR_061837"
FT VARIANT 178
FT /note="S -> F (in dbSNP:rs12925839)"
FT /id="VAR_027836"
FT VARIANT 179
FT /note="P -> S (in dbSNP:rs12925838)"
FT /id="VAR_027837"
FT CONFLICT 207
FT /note="H -> HV (in Ref. 6; CAB37938)"
FT /evidence="ECO:0000305"
FT CONFLICT 388..389
FT /note="EL -> DV (in Ref. 1; CAA07812)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 436 AA; 47045 MW; 649CDFB141B966F4 CRC64;
MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL SGMEAAPRTL
AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL WKEFSSVGTE MIITKAGRRM
FPACRVSVTG LDPEARYLFL LDVIPVDGAR YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA
TGAHWMRQPV SFHRVKLTNS TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR
FPETTFISVT AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA
YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL LHPAAFHGAP
SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA APPAVPFAPH FLQGGPFPLP
YTAPGGYLDV GSKPMY
