MB212_HUMAN
ID MB212_HUMAN Reviewed; 359 AA.
AC Q9Y586; B3KP37; Q9HBA7;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Protein mab-21-like 2;
GN Name=MAB21L2;
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 [GENOMIC DNA].
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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Chow K.L., Wong R.L.Y., Chan K.Y., Lau G.T.C., Wong Y.-M., Ho S.H.;
RT "Analysis of the vertebrate Mab21 genes suggests conserved biological
RT roles.";
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Zhang B., Shi L., Yuan G.J., Chiang Q.B.;
RL Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [6]
RP FUNCTION IN EYE DEVELOPMENT, INVOLVEMENT IN MCSKS, VARIANTS MCSKS LYS-49;
RP CYS-51; HIS-51 AND GLN-247, AND CHARACTERIZATION OF VARIANTS MCSKS LYS-49;
RP CYS-51; HIS-51 AND GLN-247.
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).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, AND VARIANT MCSKS GLY-51.
RX PubMed=25719200; DOI=10.1371/journal.pgen.1005002;
RA Deml B., Kariminejad A., Borujerdi R.H., Muheisen S., Reis L.M.,
RA Semina E.V.;
RT "Mutations in MAB21L2 result in ocular Coloboma, microcornea and
RT cataracts.";
RL PLoS Genet. 11:E1005002-E1005002(2015).
CC -!- FUNCTION: Required for several aspects of embryonic development
CC including normal development of the eye. {ECO:0000269|PubMed:24906020,
CC ECO:0000269|PubMed:25719200}.
CC -!- INTERACTION:
CC Q9Y586; Q8IZP0-5: ABI1; NbExp=3; IntAct=EBI-6659161, EBI-11743294;
CC Q9Y586; P56377: AP1S2; NbExp=5; IntAct=EBI-6659161, EBI-1054374;
CC Q9Y586; Q03989: ARID5A; NbExp=3; IntAct=EBI-6659161, EBI-948603;
CC Q9Y586; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-6659161, EBI-10171570;
CC Q9Y586; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-6659161, EBI-739624;
CC Q9Y586; Q08379: GOLGA2; NbExp=3; IntAct=EBI-6659161, EBI-618309;
CC Q9Y586; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-6659161, EBI-5916454;
CC Q9Y586; Q15323: KRT31; NbExp=3; IntAct=EBI-6659161, EBI-948001;
CC Q9Y586; O76011: KRT34; NbExp=3; IntAct=EBI-6659161, EBI-1047093;
CC Q9Y586; Q6A162: KRT40; NbExp=3; IntAct=EBI-6659161, EBI-10171697;
CC Q9Y586; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-6659161, EBI-16439278;
CC Q9Y586; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-6659161, EBI-302345;
CC Q9Y586; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-6659161, EBI-1105213;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25719200}. Cytoplasm
CC {ECO:0000269|PubMed:25719200}. Note=Predominantly localizes to the
CC nucleus, with some cytoplasmic localization (PubMed:25719200).
CC {ECO:0000269|PubMed:25719200}.
CC -!- DISEASE: Microphthalmia/coloboma and skeletal dysplasia syndrome
CC (MCSKS) [MIM:615877]: A disease characterized by bilateral colobomatous
CC microphthalmia or bilateral anophthalmia, associated with skeletal
CC dysplasia in some cases. Additional ocular findings include
CC microcornea, cataracts, corectopia and nystagmus. Intellectual
CC disability is present in some patients. {ECO:0000269|PubMed:24906020,
CC ECO:0000269|PubMed:25719200}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
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DR EMBL; AF155219; AAD40248.1; -; Genomic_DNA.
DR EMBL; AF262032; AAG09800.1; -; mRNA.
DR EMBL; AF370007; AAK54206.1; -; mRNA.
DR EMBL; AK055665; BAG51549.1; -; mRNA.
DR EMBL; BC009983; AAH09983.1; -; mRNA.
DR CCDS; CCDS3774.1; -.
DR RefSeq; NP_006430.1; NM_006439.4.
DR AlphaFoldDB; Q9Y586; -.
DR SMR; Q9Y586; -.
DR BioGRID; 115835; 145.
DR IntAct; Q9Y586; 119.
DR STRING; 9606.ENSP00000324701; -.
DR iPTMnet; Q9Y586; -.
DR PhosphoSitePlus; Q9Y586; -.
DR BioMuta; MAB21L2; -.
DR DMDM; 74735281; -.
DR EPD; Q9Y586; -.
DR MassIVE; Q9Y586; -.
DR PaxDb; Q9Y586; -.
DR PeptideAtlas; Q9Y586; -.
DR PRIDE; Q9Y586; -.
DR ProteomicsDB; 86315; -.
DR Antibodypedia; 45517; 48 antibodies from 15 providers.
DR DNASU; 10586; -.
DR Ensembl; ENST00000317605.6; ENSP00000324701.4; ENSG00000181541.6.
DR GeneID; 10586; -.
DR KEGG; hsa:10586; -.
DR MANE-Select; ENST00000317605.6; ENSP00000324701.4; NM_006439.5; NP_006430.1.
DR UCSC; uc003ilw.4; human.
DR CTD; 10586; -.
DR DisGeNET; 10586; -.
DR GeneCards; MAB21L2; -.
DR HGNC; HGNC:6758; MAB21L2.
DR HPA; ENSG00000181541; Tissue enriched (intestine).
DR MalaCards; MAB21L2; -.
DR MIM; 604357; gene.
DR MIM; 615877; phenotype.
DR neXtProt; NX_Q9Y586; -.
DR OpenTargets; ENSG00000181541; -.
DR Orphanet; 424099; Colobomatous microphthalmia-rhizomelic dysplasia syndrome.
DR PharmGKB; PA30517; -.
DR VEuPathDB; HostDB:ENSG00000181541; -.
DR eggNOG; KOG3963; Eukaryota.
DR GeneTree; ENSGT01050000244827; -.
DR HOGENOM; CLU_045315_0_0_1; -.
DR InParanoid; Q9Y586; -.
DR OMA; RCLSMLK; -.
DR OrthoDB; 771781at2759; -.
DR PhylomeDB; Q9Y586; -.
DR TreeFam; TF315012; -.
DR PathwayCommons; Q9Y586; -.
DR SignaLink; Q9Y586; -.
DR BioGRID-ORCS; 10586; 12 hits in 1080 CRISPR screens.
DR GenomeRNAi; 10586; -.
DR Pharos; Q9Y586; Tbio.
DR PRO; PR:Q9Y586; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9Y586; protein.
DR Bgee; ENSG00000181541; Expressed in muscle layer of sigmoid colon and 98 other tissues.
DR Genevisible; Q9Y586; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0043010; P:camera-type eye development; IEA:Ensembl.
DR GO; GO:0008283; P:cell population proliferation; IEA:Ensembl.
DR GO; GO:0010172; P:embryonic body morphogenesis; IEA:Ensembl.
DR GO; GO:0001654; P:eye development; IMP:UniProtKB.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IEA:Ensembl.
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 1: Evidence at protein level;
KW Cytoplasm; Developmental protein; Disease variant; Microphthalmia; Nucleus;
KW Reference proteome.
FT CHAIN 1..359
FT /note="Protein mab-21-like 2"
FT /id="PRO_0000312787"
FT VARIANT 49
FT /note="E -> K (in MCSKS; complete loss of ssRNA-binding
FT activity with the variant protein; shows a higher stability
FT than wild-type in tetracycline-inducible cells;
FT dbSNP:rs587777513)"
FT /evidence="ECO:0000269|PubMed:24906020"
FT /id="VAR_071831"
FT VARIANT 51
FT /note="R -> C (in MCSKS; complete loss of ssRNA-binding
FT activity with the variant protein; shows a higher stability
FT than wild-type in tetracycline-inducible cells;
FT dbSNP:rs587777512)"
FT /evidence="ECO:0000269|PubMed:24906020"
FT /id="VAR_071832"
FT VARIANT 51
FT /note="R -> G (in MCSKS; Decreased stability; does not
FT affect subcellular localization; dbSNP:rs587777512)"
FT /evidence="ECO:0000269|PubMed:25719200"
FT /id="VAR_079053"
FT VARIANT 51
FT /note="R -> H (in MCSKS; complete loss of ssRNA-binding
FT activity with the variant protein; shows a higher stability
FT than wild-type in tetracycline-inducible cells;
FT dbSNP:rs587777511)"
FT /evidence="ECO:0000269|PubMed:24906020"
FT /id="VAR_071833"
FT VARIANT 247
FT /note="R -> Q (in MCSKS; complete loss of ssRNA-binding
FT activity with the variant protein; dbSNP:rs587777514)"
FT /evidence="ECO:0000269|PubMed:24906020"
FT /id="VAR_071834"
FT CONFLICT 235
FT /note="G -> V (in Ref. 2; AAG09800)"
FT /evidence="ECO:0000305"
SQ 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
