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Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000242 Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_000242.2, 171906615
Length 3569 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.
Product mannose-binding protein C precursor
Comment

Summary: This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008].


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_000233.1
CDS 66..812
Misc Feature(1)18..20
Misc Feature(2)204..206
Misc Feature(3)282..284
Misc Feature(4)300..302
Misc Feature(5)309..311
Misc Feature(6)327..329
Misc Feature(7)471..803
Misc Feature(8)order(627..629,639..641,708..710,723..728)
Misc Feature(9)order(639..641,708..710,726..728)
Misc Feature(10)order(699..701,705..707,723..725,759..764)
Exon (1)1..252
Gene:MBL2
Gene Synonym:COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C; MBP1; MBPD
Exon (2)253..369
Gene:MBL2
Gene Synonym:COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C; MBP1; MBPD
Exon (3)370..438
Gene:MBL2
Gene Synonym:COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C; MBP1; MBPD
Exon (4)439..3569
Gene:MBL2
Gene Synonym:COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C; MBP1; MBPD
Translation MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKG EPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMA RIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKE EAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH LAVCEFPI
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Position Chain Variation Link
complement(22)-t, cdbSNP:4647963
complement(52)-g, cdbSNP:184683428
complement(67)-g, adbSNP:139669290
complement(72)-g, adbSNP:141739326
complement(87)-g, adbSNP:150611863
complement(99)-g, cdbSNP:72661126
complement(100)-t, gdbSNP:72661127
complement(115)-g, adbSNP:76063875
complement(116)-g, adbSNP:56412725
complement(139)-g, cdbSNP:72661128
complement(160)-c, adbSNP:199957742
complement(167)-g, adbSNP:8179079
complement(174)-c, adbSNP:201511397
complement(181)-t, cdbSNP:146004726
complement(182)-g, adbSNP:142532058
complement(183)-c, adbSNP:148483303
complement(197)-g, adbSNP:34120190
complement(219)-t, cdbSNP:5030737
complement(220)-t, cdbSNP:148078249
complement(226)-g, adbSNP:1800450
complement(235)-g, adbSNP:1800451
complement(259)-dbSNP:
complement(259)-t, g, cdbSNP:201305883
complement(367)-g, adbSNP:143562102
complement(368)-g, adbSNP:55902142
complement(379)-dbSNP:
complement(379)-t, g, cdbSNP:137974936
complement(382)-c, adbSNP:202135976
complement(421)-g, adbSNP:181047707
complement(423)-t, cdbSNP:147093724
complement(424)-t, gdbSNP:140526147
complement(426)-g, adbSNP:188107846
complement(427)-t, cdbSNP:200416222
complement(443)-dbSNP:
complement(443)-g, cdbSNP:930507
complement(462)-g, cdbSNP:201337696
complement(465)-t, cdbSNP:200040065
complement(473)-t, cdbSNP:35805975
complement(514)-t, gdbSNP:149216902
complement(515)-t, cdbSNP:146554537
complement(517)-t, gdbSNP:8191995
complement(555)-t, gdbSNP:200749792
complement(574)-t, cdbSNP:144193243
complement(592)-g, adbSNP:8191996
complement(613)-c, adbSNP:139637221
complement(693)-c, adbSNP:74754826
complement(705)-t, adbSNP:12260094
complement(788)-t, cdbSNP:144103418
complement(791)-t, gdbSNP:139905034
complement(792)-t, cdbSNP:185230071
complement(818)-t, gdbSNP:202025794
complement(846)-g, adbSNP:199798659
complement(954)-g, cdbSNP:193077443
complement(961..962)-, gdbSNP:34180095
complement(1125)-g, adbSNP:146097239
complement(1133)-t, gdbSNP:56196250
complement(1487)-t, cdbSNP:56213573
complement(1532)-t, cdbSNP:55906813
complement(1570)-t, cdbSNP:189703968
complement(1578)-t, cdbSNP:1126881
complement(1589)-g, adbSNP:184873845
complement(1622)-g, adbSNP:142826643
complement(1627)-g, cdbSNP:56129213
complement(1630)-g, adbSNP:56311691
complement(1677)-c, adbSNP:55714260
complement(1731)-g, adbSNP:139256308
complement(1900)-t, cdbSNP:56095345
complement(1903..1904)-, gdbSNP:35648179
complement(1946)-g, adbSNP:11003121
complement(1947)-t, cdbSNP:11595876
complement(1948)-t, cdbSNP:115639140
complement(2024)-t, gdbSNP:191589143
complement(2087)-g, adbSNP:10082466
complement(2088)-g, adbSNP:58830057
complement(2100)-t, cdbSNP:150837380
complement(2215)-t, cdbSNP:141410154
complement(2257)-g, adbSNP:148385740
complement(2264)-t, adbSNP:186828712
complement(2310)-g, adbSNP:56009657
complement(2315)-, adbSNP:35937235
complement(2347)-t, gdbSNP:182107601
complement(2349)-t, adbSNP:192591672
complement(2503)-t, cdbSNP:10824792
complement(2506)-t, gdbSNP:35327474
complement(2507)-t, g, adbSNP:35768126
complement(2523)-c, adbSNP:12254557
complement(2556)-g, adbSNP:147320014
complement(2669)-t, cdbSNP:2120132
complement(2691)-t, gdbSNP:2120131
complement(2725)-g, adbSNP:2165813
complement(2852)-c, adbSNP:2099903
complement(2860)-t, cdbSNP:2099902
complement(3019)-t, cdbSNP:191761980
complement(3031)-t, gdbSNP:2083771
complement(3193)-c, adbSNP:56344844
complement(3200)-c, adbSNP:2506
complement(3260)-c, adbSNP:115323074
complement(3262)-t, adbSNP:56325023
complement(3289)-t, cdbSNP:55855374
complement(3312)-t, gdbSNP:1042749
complement(3390)-t, cdbSNP:56212603
complement(3460)-t, gdbSNP:183826308
complement(3461)-t, cdbSNP:186505323
complement(3514)-t, cdbSNP:114932753
complement(3521)-t, adbSNP:182548321
complement(3539)-c, adbSNP:138449358
Gene SymbolMBL2
Gene SynonymCOLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C; MBP1; MBPD
Chromosome10
Locus Map10q11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000242 Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. In-stock $308.00 $259.00 10
Title Mannose-binding lectin genotype influences frequency and duration of infectious complications in children with malignancy .
Author Dommett,R., Chisholm,J., Turner,M., Bajaj-Elliott,M. and Klein,N.J.
Journal J. Pediatr. Hematol. Oncol. 35 (1), 69-75 (2013)
Title [Association between mannose-binding lectin 2 gene and protein kinase C-beta 1 gene polymorphisms and type 2 diabetic macrovascular complications in northern Chinese Han population] .
Author Zhang,N.N., Yao,L., Zhuang,M.Q., Wang,G.C., Chen,T.T., Yang,Y.J., Zhang,J., Lv,M. and Jin,L.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29 (6), 709-714 (2012)
Title Mannose-binding lectin gene codon 54 polymorphism susceptible to brucellosis in Turkish children .
Author Bayram,N., Ozkinay,F., Onay,H., Yilmaz-Ciftdogan,D., Tufan,S. and Vardar,F.
Journal Turk. J. Pediatr. 54 (3), 234-238 (2012)
Title Complement and mannose-binding lectin 2 polymorphism in meningococcal disease .
Author Lima Filho,A., Carmo,R., Cavalcanti,M., Vasconcelos,L., Moura,P., Silva,A. and Sarinho,E.
Journal Clin. Lab. 58 (11-12), 1165-1169 (2012)
Title Impact of mannose-binding lectin deficiency on radiocontrast-induced renal dysfunction: a post-hoc analysis of a multicenter randomized controlled trial .
Author Osthoff,M., Piezzi,V., Klima,T., Christ,A., Marana,I., Hartwiger,S., Breidthardt,T., Marenzi,G., Trendelenburg,M. and Mueller,C.
Journal BMC Nephrol 13, 99 (2012)
Title Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations .
Author Garred,P., Thiel,S., Madsen,H.O., Ryder,L.P., Jensenius,J.C. and Svejgaard,A.
Journal Clin. Exp. Immunol. 90 (3), 517-521 (1992)
Title High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene .
Author Lipscombe,R.J., Sumiya,M., Hill,A.V., Lau,Y.L., Levinsky,R.J., Summerfield,J.A. and Turner,M.W.
Journal Hum. Mol. Genet. 1 (9), 709-715 (1992)
Title Distinct and overlapping functions of allelic forms of human mannose binding protein .
Author Super,M., Gillies,S.D., Foley,S., Sastry,K., Schweinle,J.E., Silverman,V.J. and Ezekowitz,R.A.
Journal Nat. Genet. 2 (1), 50-55 (1992)
Title Molecular basis of opsonic defect in immunodeficient children .
Author Sumiya,M., Super,M., Tabona,P., Levinsky,R.J., Arai,T., Turner,M.W. and Summerfield,J.A.
Journal Lancet 337 (8757), 1569-1570 (1991)
Title The gene for mannose-binding protein maps to chromosome 10 and is a marker for multiple endocrine neoplasia type 2 .
Author Schuffenecker,I., Narod,S.A., Ezekowitz,R.A., Sobol,H., Feunteun,J. and Lenoir,G.M.
Journal Cytogenet. Cell Genet. 56 (2), 99-102 (1991)


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