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Protein mab-21-like 2

 MB212_HUMAN             Reviewed;         359 AA.
Q9Y586; B3KP37; Q9HBA7;
04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
01-NOV-1999, sequence version 1.
30-AUG-2017, entry version 113.
RecName: Full=Protein mab-21-like 2;
Name=MAB21L2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
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).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
Chow K.L., Wong R.L.Y., Chan K.Y., Lau G.T.C., Wong Y.-M., Ho S.H.;
"Analysis of the vertebrate Mab21 genes suggests conserved biological
roles.";
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA].
Zhang B., Shi L., Yuan G.J., Chiang Q.B.;
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
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).
[6]
FUNCTION IN EYE DEVELOPMENT, INVOLVEMENT IN MCOPS14, VARIANTS MCOPS14
LYS-49; CYS-51; HIS-51 AND GLN-247, AND CHARACTERIZATION OF VARIANTS
MCOPS14 LYS-49; CYS-51; HIS-51 AND GLN-247.
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.
{ECO:0000269|PubMed:24906020}.
-!- INTERACTION:
Q68D86:CCDC102B; NbExp=3; IntAct=EBI-6659161, EBI-10171570;
Q08379:GOLGA2; NbExp=3; IntAct=EBI-6659161, EBI-618309;
Q6A162:KRT40; NbExp=3; IntAct=EBI-6659161, EBI-10171697;
Q8ND90:PNMA1; NbExp=3; IntAct=EBI-6659161, EBI-302345;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8BPP1}.
-!- DISEASE: Microphthalmia, syndromic, 14 (MCOPS14) [MIM:615877]: A
form of microphthalmia, a disorder of eye formation, ranging from
small size of a single eye to complete bilateral absence of ocular
tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
occurs in association with syndromes that include non-ocular
abnormalities. MCOPS14 patients exhibit bilateral colobomatous
microphthalmia or bilateral anophthalmia. Intellectual disability
and rhizomelic skeletal dysplasia is present in some affected
individuals. {ECO:0000269|PubMed:24906020}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF155219; AAD40248.1; -; Genomic_DNA.
EMBL; AF262032; AAG09800.1; -; mRNA.
EMBL; AF370007; AAK54206.1; -; mRNA.
EMBL; AK055665; BAG51549.1; -; mRNA.
EMBL; BC009983; AAH09983.1; -; mRNA.
CCDS; CCDS3774.1; -.
RefSeq; NP_006430.1; NM_006439.4.
UniGene; Hs.584852; -.
ProteinModelPortal; Q9Y586; -.
SMR; Q9Y586; -.
BioGrid; 115835; 15.
IntAct; Q9Y586; 14.
STRING; 9606.ENSP00000324701; -.
iPTMnet; Q9Y586; -.
PhosphoSitePlus; Q9Y586; -.
BioMuta; MAB21L2; -.
DMDM; 74735281; -.
PaxDb; Q9Y586; -.
PeptideAtlas; Q9Y586; -.
PRIDE; Q9Y586; -.
DNASU; 10586; -.
Ensembl; ENST00000317605; ENSP00000324701; ENSG00000181541.
GeneID; 10586; -.
KEGG; hsa:10586; -.
UCSC; uc003ilw.4; human.
CTD; 10586; -.
DisGeNET; 10586; -.
GeneCards; MAB21L2; -.
HGNC; HGNC:6758; MAB21L2.
HPA; HPA049324; -.
HPA; HPA059864; -.
MalaCards; MAB21L2; -.
MIM; 604357; gene.
MIM; 615877; phenotype.
neXtProt; NX_Q9Y586; -.
OpenTargets; ENSG00000181541; -.
PharmGKB; PA30517; -.
eggNOG; KOG3963; Eukaryota.
eggNOG; ENOG410XNRJ; LUCA.
GeneTree; ENSGT00510000046791; -.
HOGENOM; HOG000007337; -.
HOVERGEN; HBG053080; -.
InParanoid; Q9Y586; -.
OMA; CSGVWPR; -.
OrthoDB; EOG091G0939; -.
PhylomeDB; Q9Y586; -.
TreeFam; TF315012; -.
GenomeRNAi; 10586; -.
PRO; PR:Q9Y586; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000181541; -.
CleanEx; HS_MAB21L2; -.
Genevisible; Q9Y586; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0043010; P:camera-type eye development; IEA:Ensembl.
GO; GO:0010172; P:embryonic body morphogenesis; IEA:Ensembl.
GO; GO:0001654; P:eye development; IMP:UniProtKB.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
GO; GO:0008284; P:positive regulation of cell proliferation; IEA:Ensembl.
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.
1: Evidence at protein level;
Complete proteome; Developmental protein; Disease mutation;
Microphthalmia; Nucleus; Reference proteome.
CHAIN 1 359 Protein mab-21-like 2.
/FTId=PRO_0000312787.
VARIANT 49 49 E -> K (in MCOPS14; complete loss of
ssRNA-binding activity with the variant
protein; shows a higher stability than
wild-type in tetracycline-inducible
cells; dbSNP:rs587777513).
{ECO:0000269|PubMed:24906020}.
/FTId=VAR_071831.
VARIANT 51 51 R -> C (in MCOPS14; complete loss of
ssRNA-binding activity with the variant
protein; shows a higher stability than
wild-type in tetracycline-inducible
cells; dbSNP:rs587777512).
{ECO:0000269|PubMed:24906020}.
/FTId=VAR_071832.
VARIANT 51 51 R -> H (in MCOPS14; complete loss of
ssRNA-binding activity with the variant
protein; shows a higher stability than
wild-type in tetracycline-inducible
cells; dbSNP:rs587777511).
{ECO:0000269|PubMed:24906020}.
/FTId=VAR_071833.
VARIANT 247 247 R -> Q (in MCOPS14; complete loss of
ssRNA-binding activity with the variant
protein; dbSNP:rs587777514).
{ECO:0000269|PubMed:24906020}.
/FTId=VAR_071834.
CONFLICT 235 235 G -> V (in Ref. 2; AAG09800).
{ECO:0000305}.
SEQUENCE 359 AA; 40923 MW; 24AFD8AF1600C1AA 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 WDESCLGDRL
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALESAAK QTWRLAREIL TNPKSLDKL


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