MB3L2_HUMAN
ID MB3L2_HUMAN Reviewed; 208 AA.
AC Q8NHZ7;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Methyl-CpG-binding domain protein 3-like 2;
DE Short=MBD3-like protein 2;
GN Name=MBD3L2;
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], AND TISSUE SPECIFICITY.
RX PubMed=12504854; DOI=10.1006/geno.2002.7001;
RA Jiang C.-L., Jin S.-G., Lee D.-H., Lan Z.-J., Xu X., O'Connor T.R.,
RA Szabo P.E., Mann J.R., Cooney A.J., Pfeifer G.P.;
RT "MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG-binding
RT proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific
RT transcriptional repressor.";
RL Genomics 80:621-629(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 87-208.
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).
CC -!- INTERACTION:
CC Q8NHZ7; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-11989378, EBI-5916454;
CC Q8NHZ7; Q96D09: GPRASP2; NbExp=3; IntAct=EBI-11989378, EBI-473189;
CC Q8NHZ7; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-11989378, EBI-3044087;
CC Q8NHZ7; O76011: KRT34; NbExp=3; IntAct=EBI-11989378, EBI-1047093;
CC Q8NHZ7; Q99750: MDFI; NbExp=3; IntAct=EBI-11989378, EBI-724076;
CC Q8NHZ7; Q59EK9-3: RUNDC3A; NbExp=3; IntAct=EBI-11989378, EBI-11957366;
CC Q8NHZ7; P0C264: SBK3; NbExp=3; IntAct=EBI-11989378, EBI-17181801;
CC Q8NHZ7; Q8N7C3: TRIML2; NbExp=3; IntAct=EBI-11989378, EBI-11059915;
CC -!- TISSUE SPECIFICITY: Detected at low levels in several somatic tissues.
CC Highly expressed in the ovarian teratocarcinoma cell line PA-1.
CC {ECO:0000269|PubMed:12504854}.
CC -!- MISCELLANEOUS: The MBD3L proteins are encoded by strongly repeated
CC regions of the 19p13 chromosome. The exact number of functional copies
CC is unclear, and some of them may represent pseudogenes.
CC -!- SIMILARITY: Belongs to the MBD3L family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAM28154.2; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF503919; AAM28154.2; ALT_FRAME; mRNA.
DR EMBL; AC010606; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BE502398; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS42483.1; -.
DR RefSeq; NP_653215.2; NM_144614.3.
DR AlphaFoldDB; Q8NHZ7; -.
DR SMR; Q8NHZ7; -.
DR BioGRID; 125944; 54.
DR IntAct; Q8NHZ7; 8.
DR STRING; 9606.ENSP00000370800; -.
DR BioMuta; MBD3L2; -.
DR MassIVE; Q8NHZ7; -.
DR PaxDb; Q8NHZ7; -.
DR PeptideAtlas; Q8NHZ7; -.
DR PRIDE; Q8NHZ7; -.
DR Antibodypedia; 68491; 69 antibodies from 11 providers.
DR DNASU; 125997; -.
DR Ensembl; ENST00000381393.3; ENSP00000370800.2; ENSG00000230522.5.
DR GeneID; 125997; -.
DR KEGG; hsa:125997; -.
DR MANE-Select; ENST00000381393.3; ENSP00000370800.2; NM_144614.4; NP_653215.2.
DR UCSC; uc010dvf.2; human.
DR CTD; 125997; -.
DR DisGeNET; 125997; -.
DR GeneCards; MBD3L2; -.
DR HGNC; HGNC:18532; MBD3L2.
DR HPA; ENSG00000230522; Not detected.
DR MIM; 607964; gene.
DR neXtProt; NX_Q8NHZ7; -.
DR OpenTargets; ENSG00000230522; -.
DR PharmGKB; PA38567; -.
DR VEuPathDB; HostDB:ENSG00000230522; -.
DR eggNOG; KOG4161; Eukaryota.
DR GeneTree; ENSGT00950000183005; -.
DR InParanoid; Q8NHZ7; -.
DR OMA; YNERERT; -.
DR OrthoDB; 1511703at2759; -.
DR PhylomeDB; Q8NHZ7; -.
DR TreeFam; TF325032; -.
DR PathwayCommons; Q8NHZ7; -.
DR SignaLink; Q8NHZ7; -.
DR BioGRID-ORCS; 125997; 55 hits in 620 CRISPR screens.
DR GenomeRNAi; 125997; -.
DR Pharos; Q8NHZ7; Tdark.
DR PRO; PR:Q8NHZ7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8NHZ7; protein.
DR Bgee; ENSG00000230522; Expressed in myometrium and 1 other tissue.
DR Genevisible; Q8NHZ7; HS.
DR InterPro; IPR032343; MBD2/MBD3_p55-bd.
DR InterPro; IPR025884; MeCpG-bd_2/3_C_dom.
DR Pfam; PF14048; MBD_C; 1.
DR Pfam; PF16564; MBDa; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..208
FT /note="Methyl-CpG-binding domain protein 3-like 2"
FT /id="PRO_0000096253"
FT CONFLICT 124
FT /note="G -> S (in Ref. 1; AAM28154 and 3; BE502398)"
FT /evidence="ECO:0000305"
FT CONFLICT 207..208
FT /note="GG -> CR (in Ref. 1; AAM28154)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 208 AA; 22994 MW; 55F7F5E2275F15CB CRC64;
MGEPAFTSFP SLPVLGKLKR NMMPWALQKK REIHMAKAHR RRAARSALPM RLTSCIFRRP
VTRIRSHPDN QVRRRKGDEH LEKPQQLCAY RRLQALQPCS SQGEGSSPLH LESVLSILAP
GTAGESLDRA GAERVRSPLE PTPGRFPAVA GGPTPGMGCQ LPPPLSGQLV TPADIRRQAR
RVKKARERLA KALQADRLAR RAEMLTGG
