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Protein mab-21-like 2

 MB212_MOUSE             Reviewed;         359 AA.
Q8BPP1; Q9R1B2; Q9WVF2;
04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
01-MAR-2003, sequence version 1.
07-JUN-2017, entry version 100.
RecName: Full=Protein mab-21-like 2;
Name=Mab21l2;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=10516425;
Wong R.L.Y., Wong H.T., Chow K.L.;
"Genomic cloning and chromosomal localization of the mouse Mab21l2
locus.";
Cytogenet. Cell Genet. 86:21-24(1999).
[2]
NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY,
AND DEVELOPMENTAL STAGE.
PubMed=10556287; DOI=10.1093/hmg/8.13.2397;
Mariani M., Baldessari D., Francisconi S., Viggiano L., Rocchi M.,
Zappavigna V., Malgaretti N., Consalez G.G.;
"Two murine and human homologs of mab-21, a cell fate determination
gene involved in Caenorhabditis elegans neural development.";
Hum. Mol. Genet. 8:2397-2406(1999).
[3]
NUCLEOTIDE SEQUENCE [MRNA], AND DEVELOPMENTAL STAGE.
PubMed=10495284; DOI=10.1016/S0925-4773(99)00127-6;
Wong R.L.Y., Chan K.K.L., Chow K.L.;
"Developmental expression of Mab21l2 during mouse embryogenesis.";
Mech. Dev. 87:185-188(1999).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND DEVELOPMENTAL STAGE.
PubMed=11857508; DOI=10.1002/tera.10018;
Wong R.L.Y., Chow K.L.;
"Depletion of Mab21l1 and Mab21l2 messages in mouse embryo arrests
axial turning, and impairs notochord and neural tube
differentiation.";
Teratology 65:70-77(2002).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
STRAIN=C57BL/6J; TISSUE=Eye;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
DEVELOPMENTAL STAGE.
PubMed=12642482; DOI=10.1242/dev.00399;
Yamada R., Mizutani-Koseki Y., Hasegawa T., Osumi N., Koseki H.,
Takahashi N.;
"Cell-autonomous involvement of Mab21l1 is essential for lens placode
development.";
Development 130:1759-1770(2003).
[8]
FUNCTION, AND DEVELOPMENTAL STAGE.
PubMed=15385160; DOI=10.1016/j.ydbio.2004.07.016;
Yamada R., Mizutani-Koseki Y., Koseki H., Takahashi N.;
"Requirement for Mab21l2 during development of murine retina and
ventral body wall.";
Dev. Biol. 274:295-307(2004).
[9]
TISSUE SPECIFICITY.
PubMed=24906020; DOI=10.1016/j.ajhg.2014.05.005;
UK10K;
Baylor-Hopkins Center for Mendelian Genomics;
Rainger J., Pehlivan D., Johansson S., Bengani H., Sanchez-Pulido L.,
Williamson K.A., Ture M., Barker H., Rosendahl K., Spranger J.,
Horn D., Meynert A., Floyd J.A., Prescott T., Anderson C.A.,
Rainger J.K., Karaca E., Gonzaga-Jauregui C., Jhangiani S.,
Muzny D.M., Seawright A., Soares D.C., Kharbanda M., Murday V.,
Finch A., Gibbs R.A., van Heyningen V., Taylor M.S., Yakut T.,
Knappskog P.M., Hurles M.E., Ponting C.P., Lupski J.R., Houge G.,
FitzPatrick D.R.;
"Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of
major eye malformations.";
Am. J. Hum. Genet. 94:915-923(2014).
-!- FUNCTION: Required for several aspects of embryonic development
including normal development of the eye, notochord, neural tube
and other organ tissues, and for embryonic turning.
{ECO:0000269|PubMed:11857508, ECO:0000269|PubMed:15385160}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10556287}.
-!- TISSUE SPECIFICITY: Expressed in the adult cerebellum and eye,
with lower levels in the adult forebrain (PubMed:10556287). In
embryos at 10.5 days post-coitum strongly expressed in the rostral
and distal regions of the developing neural retina, with no
expression immediately adjacent to the closing optic fissure.
Expression is also observed in the dorsal and ventral aspects of
the developing forelimb bud and in the developing pharyngeal
arches, as well as in the midbrain (PubMed:24906020).
{ECO:0000269|PubMed:10556287, ECO:0000269|PubMed:24906020}.
-!- DEVELOPMENTAL STAGE: Expressed in the developing dorsal midbrain,
the posterior portion of the mesencephalon and the retinal
primordium of the optic cup. At E10, expressed in the temporal and
nasal aspect of the retina and throughout the length of the dorsal
midbrain. At E10.5 this retinal pattern of expression persists,
and extraneural sites of expression include the branchial region,
limb buds and intestine. Also highly expressed in the alar
mesencephalon and the rhombencephalic basal plate from E10.5 to
E14.5, and in the posterior third of the tectum and the
presumptive gut wall. Also strongly expressed in the hindbrain,
optic vesicle, maxillary and mandible process, paraxial mesoderm,
developing digits and the umbilical cord.
{ECO:0000269|PubMed:10495284, ECO:0000269|PubMed:10556287,
ECO:0000269|PubMed:11857508, ECO:0000269|PubMed:12642482,
ECO:0000269|PubMed:15385160}.
-!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF149877; AAD40478.1; -; mRNA.
EMBL; AF126427; AAD39141.1; -; mRNA.
EMBL; AF223425; AAK49026.1; -; Genomic_DNA.
EMBL; AK053645; BAC35460.1; -; mRNA.
EMBL; BC046628; AAH46628.1; -; mRNA.
CCDS; CCDS17447.1; -.
RefSeq; NP_035969.2; NM_011839.3.
UniGene; Mm.389466; -.
ProteinModelPortal; Q8BPP1; -.
SMR; Q8BPP1; -.
STRING; 10090.ENSMUSP00000076729; -.
iPTMnet; Q8BPP1; -.
PhosphoSitePlus; Q8BPP1; -.
MaxQB; Q8BPP1; -.
PaxDb; Q8BPP1; -.
PRIDE; Q8BPP1; -.
Ensembl; ENSMUST00000077524; ENSMUSP00000076729; ENSMUSG00000057777.
GeneID; 23937; -.
KEGG; mmu:23937; -.
UCSC; uc008prj.1; mouse.
CTD; 10586; -.
MGI; MGI:1346022; Mab21l2.
eggNOG; KOG3963; Eukaryota.
eggNOG; ENOG410XNRJ; LUCA.
GeneTree; ENSGT00510000046791; -.
HOGENOM; HOG000007337; -.
HOVERGEN; HBG053080; -.
InParanoid; Q8BPP1; -.
OMA; CSGVWPR; -.
OrthoDB; EOG091G0939; -.
PhylomeDB; Q8BPP1; -.
TreeFam; TF315012; -.
PRO; PR:Q8BPP1; -.
Proteomes; UP000000589; Chromosome 3.
Bgee; ENSMUSG00000057777; -.
CleanEx; MM_MAB21L2; -.
Genevisible; Q8BPP1; MM.
GO; GO:0005634; C:nucleus; IDA:MGI.
GO; GO:0043010; P:camera-type eye development; IMP:MGI.
GO; GO:0010172; P:embryonic body morphogenesis; IMP:MGI.
GO; GO:0001654; P:eye development; ISS:UniProtKB.
GO; GO:0008284; P:positive regulation of cell proliferation; IMP:MGI.
InterPro; IPR020950; Mab-21-like_1/2.
InterPro; IPR024810; Mab-21_dom.
InterPro; IPR000772; Ricin_B_lectin.
PANTHER; PTHR10656:SF64; PTHR10656:SF64; 1.
Pfam; PF03281; Mab-21; 1.
SMART; SM01265; Mab-21; 1.
2: Evidence at transcript level;
Complete proteome; Developmental protein; Nucleus; Reference proteome.
CHAIN 1 359 Protein mab-21-like 2.
/FTId=PRO_0000312788.
CONFLICT 98 99 AV -> PC (in Ref. 3; AAD39141 and 4;
AAK49026). {ECO:0000305}.
CONFLICT 254 254 L -> Q (in Ref. 2; AAD40478).
{ECO:0000305}.
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


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