KEGG   Homo sapiens (human): 4153Help
Entry
4153              CDS       T01001                                 

Gene name
MBL2, COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD
Definition
(RefSeq) mannose binding lectin 2
  KO
K03991  mannose-binding lectin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04145  Phagosome
hsa04610  Complement and coagulation cascades
hsa05150  Staphylococcus aureus infection
Disease
H00105  Mannose-binding lectin pathway component defects
H00342  Tuberculosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    4153 (MBL2)
 09150 Organismal Systems
  09151 Immune system
   04610 Complement and coagulation cascades
    4153 (MBL2)
 09160 Human Diseases
  09171 Infectious diseases: Bacterial
   05150 Staphylococcus aureus infection
    4153 (MBL2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4153 (MBL2)
  09183 Protein families: signaling and cellular processes
   04091 Lectins [BR:hsa04091]
    4153 (MBL2)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Phagocytosis
   Opsonins
    4153 (MBL2)
Lectins [BR:hsa04091]
 C-Type lectins
  Group 3: Collectins
   4153 (MBL2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Lectin_C Collagen Thioredoxin_14
Motif
Other DBs
NCBI-GeneID: 4153
NCBI-ProteinID: NP_000233
OMIM: 154545
HGNC: 6922
Ensembl: ENSG00000165471
Vega: OTTHUMG00000150270
Pharos: P11226(Tbio)
UniProt: P11226
Structure
PDB: 

Position
10q21.1
AA seq 248 aa AA seqDB search
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKG
EPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMA
RIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKE
EAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI
NT seq 747 nt NT seq  +upstreamnt  +downstreamnt
atgtccctgtttccatcactccctctccttctcctgagtatggtggcagcgtcttactca
gaaactgtgacctgtgaggatgcccaaaagacctgccctgcagtgattgcctgtagctct
ccaggcatcaacggcttcccaggcaaagatgggcgtgatggcaccaagggagaaaagggg
gaaccaggccaagggctcagaggcttacagggcccccctggaaagttggggcctccagga
aatccagggccttctgggtcaccaggaccaaagggccaaaaaggagaccctggaaaaagt
ccggatggtgatagtagcctggctgcctcagaaagaaaagctctgcaaacagaaatggca
cgtatcaaaaagtggctcaccttctctctgggcaaacaagttgggaacaagttcttcctg
accaatggtgaaataatgacctttgaaaaagtgaaggccttgtgtgtcaagttccaggcc
tctgtggccacccccaggaatgctgcagagaatggagccattcagaatctcatcaaggag
gaagccttcctgggcatcactgatgagaagacagaagggcagtttgtggatctgacagga
aatagactgacctacacaaactggaacgagggtgaacccaacaatgctggttctgatgaa
gattgtgtattgctactgaaaaatggccagtggaatgacgtcccctgctccacctcccat
ctggccgtctgtgagttccctatctga

KEGG   DISEASE: Mannose-binding lectin pathway component defectsHelp
Entry
H00105                      Disease                                

Name
Mannose-binding lectin pathway component defects
  Subgroup
Mannose-binding lectin deficiency
Mannose-binding lectin-associated serine protease (MASP) 2 deficiency
Description
There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune disorders. MBL deficiency is one of the most common human immunodeficiencies and arises primarily from three single point mutations in exon 1 of the MBL-2 gene. These mutations result in a failure to assemble fully functional multimeric protein. Inherited MASP-2 deficiency has been described as the result of a mutation causing the exchange of aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00105  Mannose-binding lectin pathway component defects
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H00105  Mannose-binding lectin pathway component defects
BRITE hierarchy
Pathway
hsa04610  Complement and coagulation cascades
Gene
MBL2 [HSA:4153] [KO:K03991]
MASP2 [HSA:10747] [KO:K03993]
Other DBs
ICD-11: 4A00.1Y
OMIM: 614372 613791
Reference
  Authors
Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F
  Title
Complement in human diseases: Lessons from complement deficiencies.
  Journal
Mol Immunol 46:2774-83 (2009)
DOI:10.1016/j.molimm.2009.04.029
Reference
  Authors
Turner MW
  Title
The role of mannose-binding lectin in health and disease.
  Journal
Mol Immunol 40:423-9 (2003)
DOI:10.1016/S0161-5890(03)00155-X
Reference
  Authors
Sorensen R, Thiel S, Jensenius JC
  Title
Mannan-binding-lectin-associated serine proteases, characteristics and disease associations.
  Journal
Springer Semin Immunopathol 27:299-319 (2005)
DOI:10.1007/s00281-005-0006-z
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
  Authors
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053

» Japanese version

KEGG   DISEASE: TuberculosisHelp
Entry
H00342                      Disease                                

Name
Tuberculosis
  Subgroup
Multi-drug-resistant tuberculosis [DS:H01472]
Description
Tuberculosis is a infectious disease caused by strains of mycobacteria, mainly Mycobacterium tuberculosis, resulting in an estimated two million deaths each year worldwide, more than from any other single bacterial pathogen. Inhalation is the predominant pathway of infection, making pulmonary tuberculosis the most common form of tuberculosis. Tuberculosis may arise either from a recent infection with M. tuberculosis, or from the reactivation of dormant bacilli, years or decades after initial infection. Extrapulmonary tuberculosis mainly results from reactivation of a tuberculous focus after hematogenous dissemination or lymphogenous spread from a primary, usually pulmonary focus.
Category
Infectious disease
Brite
Infectious diseases [BR:br08401]
 Bacterial infections
  Infections caused by actinobacteria
   H00342  Tuberculosis
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Mycobacterial diseases
   Tuberculosis
    1B10  Tuberculosis of the respiratory system
     H00342  Tuberculosis
    1B11  Tuberculosis of the nervous system
     H00342  Tuberculosis
    1B12  Tuberculosis of other systems and organs
     H00342  Tuberculosis
BRITE hierarchy
Pathway
hsa05152  Tuberculosis
Gene
IFNGR1 [HSA:3459] [KO:K05132]
IFNGR2 [HSA:3460] [KO:K05133]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
SLC11A1 [HSA:6556] [KO:K12347]
VDR [HSA:7421] [KO:K08539]
MBL [HSA:4153] [KO:K03991]
Pathogen
Mycobacterium tuberculosis [GN:mtu mtc mra mtf mtb mtk mtg mti mte mtl mto mtd mtj mtuc mtue mtuh maf]
Mycobacterium canettii [GN:mce mcq mcv mcx mcz]
Drug
Triamcinolone acetonide [DR:D00983]
Dexamethasone [DR:D00292]
Dexamethasone sodium phosphate [DR:D00975]
Hydrocortisone [DR:D00088]
Hydrocortisone sodium succinate [DR:D00978]
Streptomycin sulfate [DR:D01350]
Prednisolone [DR:D00472]
Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Methylprednisolone [DR:D00407]
Methylprednisolone acetate [DR:D00979]
Cortisone acetate [DR:D00973]
Cycloserine [DR:D00877]
Rifampin [DR:D00211]
Isoniazid [DR:D00346]
Ethionamide [DR:D00591]
Pyrazinamide [DR:D00144]
Ethambutol hydrochloride [DR:D00878]
Rifampin, isoniazid and pyrazinamide [DR:D10210]
BCG vaccine [DR:D03063]
Freeze-dried BCG vaccine (for percutaneous use) [DR:D06466]
Other DBs
ICD-11: 1B10 1B11 1B12
ICD-10: A15 A16 A17 A18 A19
MeSH: D014376
MedlinePlus: 000077
Reference
(drug)
  Authors
Papadakis MA and McPhee SJ |(ed)
  Title
Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
  Journal
McGraw Hill Education
Reference
  Authors
Moller M, Hoal EG
  Title
Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis.
  Journal
Tuberculosis (Edinb) 90:71-83 (2010)
DOI:10.1016/j.tube.2010.02.002
Reference
  Authors
Fernando SL, Britton WJ
  Title
Genetic susceptibility to mycobacterial disease in humans.
  Journal
Immunol Cell Biol 84:125-37 (2006)
DOI:10.1111/j.1440-1711.2006.01420.x
Reference
  Authors
Hoal EG
  Title
Human genetic susceptibility to tuberculosis and other mycobacterial diseases.
  Journal
IUBMB Life 53:225-9 (2002)
DOI:10.1080/15216540212644
Reference
  Authors
De Backer AI, Mortele KJ, De Keulenaer BL, Parizel PM
  Title
Tuberculosis: epidemiology, manifestations, and the value of medical imaging in diagnosis.
  Journal
JBR-BTR 89:243-50 (2006)
Reference
  Authors
Smith KC, Armitige L, Wanger A
  Title
A review of tuberculosis: reflections on the past, present and future of a global epidemic disease.
  Journal
Expert Rev Anti Infect Ther 1:483-91 (2003)
DOI:10.1586/14787210.1.3.483
Reference
  Authors
Lawn SD, Zumla AI
  Title
Tuberculosis.
  Journal
Lancet 378:57-72 (2011)
DOI:10.1016/S0140-6736(10)62173-3

» Japanese version

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