Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.
| RefSeq Version | NM_000242.2, 171906615 |
| Length | 3569 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| 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]. 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 | Exon (1) | 1..252 | Exon (2) | 1..252 | Exon (3) | 253..369 | Exon (4) | 370..438 | Exon (5) | 439..3569 |
| Translation | MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKG
EPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMA
RIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKE
EAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI
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| Position | Chain | Variation | Link |
| 22 | + | c, t | dbSNP:4647963 |
| 99 | + | c, g | dbSNP:72661126 |
| 100 | + | g, t | dbSNP:72661127 |
| complement(115) | - | g, a | dbSNP:76063875 |
| 116 | + | a, g | dbSNP:56412725 |
| 139 | + | c, g | dbSNP:72661128 |
| 167 | + | a, g | dbSNP:8179079 |
| complement(197) | - | g, a | dbSNP:34120190 |
| 219 | + | c, t | dbSNP:5030737 |
| 226 | + | a, g | dbSNP:1800450 |
| 235 | + | a, g | dbSNP:1800451 |
| 368 | + | a, g | dbSNP:55902142 |
| complement(443) | - | g, c | dbSNP:930507 |
| 473 | + | c, t | dbSNP:35805975 |
| 517 | + | g, t | dbSNP:8191995 |
| 592 | + | a, g | dbSNP:8191996 |
| complement(693) | - | c, a | dbSNP:74754826 |
| complement(705) | - | t, a | dbSNP:12260094 |
| complement(821) | - | t, g | dbSNP:75805366 |
| complement(961..962) | - | , g | dbSNP:34180095 |
| complement(1133) | - | t, g | dbSNP:56196250 |
| complement(1315) | - | t, c | dbSNP:117633364 |
| 1487 | + | c, t | dbSNP:56213573 |
| complement(1532) | - | t, c | dbSNP:55906813 |
| 1578 | + | c, t | dbSNP:1126881 |
| 1627 | + | c, g | dbSNP:56129213 |
| complement(1630) | - | g, a | dbSNP:56311691 |
| 1677 | + | a, c | dbSNP:55714260 |
| 1900 | + | c, t | dbSNP:56095345 |
| complement(1903..1904) | - | , g | dbSNP:35648179 |
| complement(1946) | - | g, a | dbSNP:11003121 |
| complement(1947) | - | t, c | dbSNP:11595876 |
| complement(1948) | - | t, c | dbSNP:115639140 |
| complement(2087) | - | g, a | dbSNP:10082466 |
| complement(2088) | - | g, a | dbSNP:58830057 |
| complement(2310) | - | g, a | dbSNP:56009657 |
| complement(2315) | - | , a | dbSNP:35937235 |
| complement(2503) | - | t, c | dbSNP:10824792 |
| 2506 | + | g, t | dbSNP:35327474 |
| 2507 | + | g, t | dbSNP:35768126 |
| complement(2523) | - | c, a | dbSNP:12254557 |
| complement(2669) | - | t, c | dbSNP:2120132 |
| complement(2691) | - | t, g | dbSNP:2120131 |
| complement(2725) | - | g, a | dbSNP:2165813 |
| complement(2852) | - | c, a | dbSNP:2099903 |
| complement(2860) | - | t, c | dbSNP:2099902 |
| complement(3031) | - | t, g | dbSNP:2083771 |
| 3193 | + | a, c | dbSNP:56344844 |
| complement(3200) | - | c, a | dbSNP:2506 |
| complement(3260) | - | c, a | dbSNP:115323074 |
| 3262 | + | a, t | dbSNP:56325023 |
| 3289 | + | c, t | dbSNP:55855374 |
| 3312 | + | g, t | dbSNP:1042749 |
| 3390 | + | c, t | dbSNP:56212603 |
| complement(3514) | - | t, c | dbSNP:114932753 |
| Gene Symbol | MBL2 |
| Gene Synonym | COLEC1; HSMBPC; MBL; MBP; MBP1; MGC116832; MGC116833 |
| Chromosome | 10 |
| Locus Map | 10q11.2 |
| All Transcripts | NM_000242 |
| Title | Heterocomplexes of mannose-binding lectin and the pentraxins PTX3 or serum amyloid P component trigger cross-activation of the complement system . |
| Author | Ma,Y.J., Doni,A., Skjoedt,M.O., Honore,C., Arendrup,M., Mantovani,A. and Garred,P. |
| Journal | J. Biol. Chem. 286 (5), 3405-3417 (2011) |
| Title | Mannose-binding lectin deficiency influences innate and antigen-presenting functions of blood myeloid dendritic cells . |
| Author | Dean,M.M., Flower,R.L., Eisen,D.P., Minchinton,R.M., Hart,D.N. and Vuckovic,S. |
| Journal | Immunology 132 (2), 296-305 (2011) |
| Title | CD91 interacts with mannan-binding lectin (MBL) through the MBL-associated serine protease-binding site . |
| Author | Duus,K., Thielens,N.M., Lacroix,M., Tacnet,P., Frachet,P., Holmskov,U. and Houen,G. |
| Journal | FEBS J. 277 (23), 4956-4964 (2010) |
| Title | Association of genetic variants of mannan-binding (MBL) lectin-2 gene, MBL levels and function in ulcerative colitis and Crohn's disease . |
| Author | Sivaram,G., Tiwari,S.K., Bardia,A., Manoj,G., Santosh,B., Saikant,R., Aejaz,H., Vishnupriya,S., Khan,A.A. and Habibullah,C.M. |
| Journal | Innate Immun (2010) In press |
| Title | Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994 . |
| Author | Ned,R.M., Yesupriya,A., Imperatore,G., Smelser,D.T., Moonesinghe,R., Chang,M.H. and Dowling,N.F. |
| Journal | BMC Med. Genet. 11, 155 (2010) |
| 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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