MB212_MOUSE
ID MB212_MOUSE Reviewed; 359 AA.
AC Q8BPP1; Q9R1B2; Q9WVF2;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Protein mab-21-like 2;
GN Name=Mab21l2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10516425; DOI=10.1159/000015421;
RA Wong R.L.Y., Wong H.T., Chow K.L.;
RT "Genomic cloning and chromosomal localization of the mouse Mab21l2 locus.";
RL Cytogenet. Cell Genet. 86:21-24(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RX PubMed=10556287; DOI=10.1093/hmg/8.13.2397;
RA Mariani M., Baldessari D., Francisconi S., Viggiano L., Rocchi M.,
RA Zappavigna V., Malgaretti N., Consalez G.G.;
RT "Two murine and human homologs of mab-21, a cell fate determination gene
RT involved in Caenorhabditis elegans neural development.";
RL Hum. Mol. Genet. 8:2397-2406(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND DEVELOPMENTAL STAGE.
RX PubMed=10495284; DOI=10.1016/s0925-4773(99)00127-6;
RA Wong R.L.Y., Chan K.K.L., Chow K.L.;
RT "Developmental expression of Mab21l2 during mouse embryogenesis.";
RL Mech. Dev. 87:185-188(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=11857508; DOI=10.1002/tera.10018;
RA Wong R.L.Y., Chow K.L.;
RT "Depletion of Mab21l1 and Mab21l2 messages in mouse embryo arrests axial
RT turning, and impairs notochord and neural tube differentiation.";
RL Teratology 65:70-77(2002).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Eye;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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 [7]
RP DEVELOPMENTAL STAGE.
RX PubMed=12642482; DOI=10.1242/dev.00399;
RA Yamada R., Mizutani-Koseki Y., Hasegawa T., Osumi N., Koseki H.,
RA Takahashi N.;
RT "Cell-autonomous involvement of Mab21l1 is essential for lens placode
RT development.";
RL Development 130:1759-1770(2003).
RN [8]
RP FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=15385160; DOI=10.1016/j.ydbio.2004.07.016;
RA Yamada R., Mizutani-Koseki Y., Koseki H., Takahashi N.;
RT "Requirement for Mab21l2 during development of murine retina and ventral
RT body wall.";
RL Dev. Biol. 274:295-307(2004).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=24906020; DOI=10.1016/j.ajhg.2014.05.005;
RG UK10K;
RG Baylor-Hopkins Center for Mendelian Genomics;
RA Rainger J., Pehlivan D., Johansson S., Bengani H., Sanchez-Pulido L.,
RA Williamson K.A., Ture M., Barker H., Rosendahl K., Spranger J., Horn D.,
RA Meynert A., Floyd J.A., Prescott T., Anderson C.A., Rainger J.K.,
RA Karaca E., Gonzaga-Jauregui C., Jhangiani S., Muzny D.M., Seawright A.,
RA Soares D.C., Kharbanda M., Murday V., Finch A., Gibbs R.A.,
RA van Heyningen V., Taylor M.S., Yakut T., Knappskog P.M., Hurles M.E.,
RA Ponting C.P., Lupski J.R., Houge G., FitzPatrick D.R.;
RT "Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major
RT eye malformations.";
RL Am. J. Hum. Genet. 94:915-923(2014).
CC -!- FUNCTION: Required for several aspects of embryonic development
CC including normal development of the eye, notochord, neural tube and
CC other organ tissues, and for embryonic turning.
CC {ECO:0000269|PubMed:11857508, ECO:0000269|PubMed:15385160}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10556287}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9Y586}. Note=Predominantly localizes to the
CC nucleus, with some cytoplasmic localization.
CC {ECO:0000250|UniProtKB:Q9Y586}.
CC -!- TISSUE SPECIFICITY: Expressed in the adult cerebellum and eye, with
CC lower levels in the adult forebrain (PubMed:10556287). In embryos at
CC 10.5 days post-coitum strongly expressed in the rostral and distal
CC regions of the developing neural retina, with no expression immediately
CC adjacent to the closing optic fissure. Expression is also observed in
CC the dorsal and ventral aspects of the developing forelimb bud and in
CC the developing pharyngeal arches, as well as in the midbrain
CC (PubMed:24906020). {ECO:0000269|PubMed:10556287,
CC ECO:0000269|PubMed:24906020}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the developing dorsal midbrain, the
CC posterior portion of the mesencephalon and the retinal primordium of
CC the optic cup. At 10 dpc, expressed in the temporal and nasal aspect of
CC the retina and throughout the length of the dorsal midbrain. At 10.5
CC dpc this retinal pattern of expression persists, and extraneural sites
CC of expression include the branchial region, limb buds and intestine.
CC Also highly expressed in the alar mesencephalon and the rhombencephalic
CC basal plate from 10.5 dpc to 14.5 dpc, and in the posterior third of
CC the tectum and the presumptive gut wall. Also strongly expressed in the
CC hindbrain, optic vesicle, maxillary and mandible process, paraxial
CC mesoderm, developing digits and the umbilical cord.
CC {ECO:0000269|PubMed:10495284, ECO:0000269|PubMed:10556287,
CC ECO:0000269|PubMed:11857508, ECO:0000269|PubMed:12642482,
CC ECO:0000269|PubMed:15385160}.
CC -!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
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DR EMBL; AF149877; AAD40478.1; -; mRNA.
DR EMBL; AF126427; AAD39141.1; -; mRNA.
DR EMBL; AF223425; AAK49026.1; -; Genomic_DNA.
DR EMBL; AK053645; BAC35460.1; -; mRNA.
DR EMBL; BC046628; AAH46628.1; -; mRNA.
DR CCDS; CCDS17447.1; -.
DR RefSeq; NP_035969.2; NM_011839.3.
DR AlphaFoldDB; Q8BPP1; -.
DR SMR; Q8BPP1; -.
DR STRING; 10090.ENSMUSP00000076729; -.
DR iPTMnet; Q8BPP1; -.
DR PhosphoSitePlus; Q8BPP1; -.
DR MaxQB; Q8BPP1; -.
DR PaxDb; Q8BPP1; -.
DR PRIDE; Q8BPP1; -.
DR ProteomicsDB; 295702; -.
DR Antibodypedia; 45517; 48 antibodies from 15 providers.
DR DNASU; 23937; -.
DR Ensembl; ENSMUST00000077524; ENSMUSP00000076729; ENSMUSG00000057777.
DR GeneID; 23937; -.
DR KEGG; mmu:23937; -.
DR UCSC; uc008prj.1; mouse.
DR CTD; 10586; -.
DR MGI; MGI:1346022; Mab21l2.
DR VEuPathDB; HostDB:ENSMUSG00000057777; -.
DR eggNOG; KOG3963; Eukaryota.
DR GeneTree; ENSGT01050000244827; -.
DR HOGENOM; CLU_045315_0_0_1; -.
DR InParanoid; Q8BPP1; -.
DR OMA; RCLSMLK; -.
DR OrthoDB; 101142at2759; -.
DR PhylomeDB; Q8BPP1; -.
DR TreeFam; TF315012; -.
DR BioGRID-ORCS; 23937; 0 hits in 71 CRISPR screens.
DR PRO; PR:Q8BPP1; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q8BPP1; protein.
DR Bgee; ENSMUSG00000057777; Expressed in associated mesenchyme of midgut and 150 other tissues.
DR Genevisible; Q8BPP1; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0043010; P:camera-type eye development; IMP:MGI.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0010172; P:embryonic body morphogenesis; IMP:MGI.
DR GO; GO:0001654; P:eye development; ISS:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:MGI.
DR InterPro; IPR024810; Mab-21_dom.
DR InterPro; IPR020950; Mab21-l2.
DR InterPro; IPR000772; Ricin_B_lectin.
DR PANTHER; PTHR10656:SF37; PTHR10656:SF37; 1.
DR Pfam; PF03281; Mab-21; 1.
DR SMART; SM01265; Mab-21; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Developmental protein; Nucleus; Reference proteome.
FT CHAIN 1..359
FT /note="Protein mab-21-like 2"
FT /id="PRO_0000312788"
FT CONFLICT 98..99
FT /note="AV -> PC (in Ref. 3; AAD39141 and 4; AAK49026)"
FT /evidence="ECO:0000305"
FT CONFLICT 254
FT /note="L -> Q (in Ref. 2; AAD40478)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 359 AA; 40907 MW; 24B7A0CF0E78A1AA CRC64;
MIAAQAKLVY QLNKYYTERC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLSEID
ARYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS
GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MIADTSEVKL RIRERYVVQI TPAFKCTGIW
PRSAAQWPMP HIPWPGPNRV AEVKAEGFNL LSKECYSLTG KQSSAESDAW VLQFGEAENR
LLMGGCRNKC LSVLKTLRDR HLELPGQPLN NYHMKTLLLY ECEKHPRETD WDEACLGDRL
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALESAAK QTWRLAREIL TNPKSLDKL
