LBX2_HUMAN
ID LBX2_HUMAN Reviewed; 198 AA.
AC Q6XYB7; Q7Z5Y8;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Transcription factor LBX2;
DE AltName: Full=Ladybird homeobox 2 {ECO:0000303|PubMed:29669692};
DE AltName: Full=Ladybird homeobox protein homolog 2;
GN Name=LBX2; ORFNames=LP3727;
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 2).
RA Huang C.Q., Wu S.L., Chen Z., Shan Y.X., Liu S., Xiao P.J.;
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 IDENTIFICATION.
RX PubMed=11386758; DOI=10.1006/geno.2001.6539;
RA Chen F., Collin G.B., Liu K.C., Beier D.R., Eccles M., Nishina P.M.,
RA Moshang T., Epstein J.A.;
RT "Characterization of the murine Lbx2 promoter, identification of the human
RT homologue, and evaluation as a candidate for Alstrom syndrome.";
RL Genomics 74:219-227(2001).
RN [6]
RP VARIANTS GLU-139 AND PRO-171.
RX PubMed=29669692; DOI=10.1016/j.ijcard.2018.04.038;
RA Wang J., Luo J., Chen Q., Wang X., He J., Zhang W., Yin Z., Zheng F.,
RA Pan H., Li T., Lou Q., Wang B.;
RT "Identification of LBX2 as a novel causal gene of atrial septal defect.";
RL Int. J. Cardiol. 265:188-194(2018).
CC -!- FUNCTION: Transcription factor. {ECO:0000250|UniProtKB:Q804R0}.
CC -!- INTERACTION:
CC Q6XYB7-2; P50750-2: CDK9; NbExp=3; IntAct=EBI-12029900, EBI-12029902;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6XYB7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6XYB7-2; Sequence=VSP_029522;
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DR EMBL; AY305861; AAP74384.1; -; mRNA.
DR EMBL; AY203953; AAP34476.1; -; mRNA.
DR EMBL; CH471053; EAW99636.1; -; Genomic_DNA.
DR EMBL; BC150517; AAI50518.1; -; mRNA.
DR CCDS; CCDS33228.1; -. [Q6XYB7-2]
DR CCDS; CCDS62938.1; -. [Q6XYB7-1]
DR RefSeq; NP_001009812.1; NM_001009812.1. [Q6XYB7-2]
DR RefSeq; NP_001269359.1; NM_001282430.1. [Q6XYB7-1]
DR AlphaFoldDB; Q6XYB7; -.
DR SMR; Q6XYB7; -.
DR BioGRID; 124550; 18.
DR IntAct; Q6XYB7; 2.
DR STRING; 9606.ENSP00000366789; -.
DR iPTMnet; Q6XYB7; -.
DR BioMuta; LBX2; -.
DR DMDM; 74749508; -.
DR EPD; Q6XYB7; -.
DR MassIVE; Q6XYB7; -.
DR PaxDb; Q6XYB7; -.
DR PeptideAtlas; Q6XYB7; -.
DR PRIDE; Q6XYB7; -.
DR Antibodypedia; 31549; 120 antibodies from 16 providers.
DR DNASU; 85474; -.
DR Ensembl; ENST00000377566.9; ENSP00000366789.4; ENSG00000179528.16. [Q6XYB7-1]
DR Ensembl; ENST00000460508.3; ENSP00000417116.2; ENSG00000179528.16. [Q6XYB7-2]
DR GeneID; 85474; -.
DR KEGG; hsa:85474; -.
DR MANE-Select; ENST00000377566.9; ENSP00000366789.4; NM_001282430.2; NP_001269359.1.
DR UCSC; uc002slv.6; human. [Q6XYB7-1]
DR CTD; 85474; -.
DR DisGeNET; 85474; -.
DR GeneCards; LBX2; -.
DR HGNC; HGNC:15525; LBX2.
DR HPA; ENSG00000179528; Group enriched (intestine, liver, stomach).
DR MIM; 607164; gene.
DR neXtProt; NX_Q6XYB7; -.
DR OpenTargets; ENSG00000179528; -.
DR PharmGKB; PA30305; -.
DR VEuPathDB; HostDB:ENSG00000179528; -.
DR eggNOG; KOG0488; Eukaryota.
DR GeneTree; ENSGT00940000162295; -.
DR HOGENOM; CLU_086390_0_0_1; -.
DR InParanoid; Q6XYB7; -.
DR OMA; MNSGRQP; -.
DR OrthoDB; 1472248at2759; -.
DR PhylomeDB; Q6XYB7; -.
DR TreeFam; TF325047; -.
DR PathwayCommons; Q6XYB7; -.
DR SignaLink; Q6XYB7; -.
DR BioGRID-ORCS; 85474; 10 hits in 1099 CRISPR screens.
DR GenomeRNAi; 85474; -.
DR Pharos; Q6XYB7; Tbio.
DR PRO; PR:Q6XYB7; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6XYB7; protein.
DR Bgee; ENSG00000179528; Expressed in right lobe of liver and 88 other tissues.
DR ExpressionAtlas; Q6XYB7; baseline and differential.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0042692; P:muscle cell differentiation; ISS:UniProtKB.
DR GO; GO:1904105; P:positive regulation of convergent extension involved in gastrulation; ISS:UniProtKB.
DR GO; GO:2000052; P:positive regulation of non-canonical Wnt signaling pathway; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..198
FT /note="Transcription factor LBX2"
FT /id="PRO_0000311328"
FT DNA_BIND 85..144
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 24..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 63..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 173..198
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..69
FT /note="MNSGREPRTPRTLLSIADILAPRMVPRAPSAPQLPESGPGPTSPLCALEELT
FT SKTFRGLDARALQPSEG -> MGKRTSLEVSLGELGGEKCRGGRRSFPPLAASRPARPG
FT GWRWARRDLCKTASRAENNSQACRPQR (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_029522"
FT VARIANT 139
FT /note="K -> E (found in a patient with atrial septal
FT defects; unknown pathological significance;
FT dbSNP:rs753669213)"
FT /evidence="ECO:0000269|PubMed:29669692"
FT /id="VAR_083939"
FT VARIANT 158
FT /note="S -> F (in dbSNP:rs17009998)"
FT /id="VAR_037227"
FT VARIANT 171
FT /note="A -> P (found in a patient with atrial septal
FT defects; unknown pathological significance;
FT dbSNP:rs201832456)"
FT /evidence="ECO:0000269|PubMed:29669692"
FT /id="VAR_083940"
SQ SEQUENCE 198 AA; 21482 MW; FF0796EB344F5C26 CRC64;
MNSGREPRTP RTLLSIADIL APRMVPRAPS APQLPESGPG PTSPLCALEE LTSKTFRGLD
ARALQPSEGR AGPDALGPGP FGRKRRKSRT AFTAQQVLEL ERRFVFQKYL APSERDGLAT
RLGLANAQVV TWFQNRRAKL KRDVEEMRAD VASLRALSPE VLCSLALPEG APDPGLCLGP
AGPDSRPHLS DEEIQVDD
