MBL2 (Entrez ID: 4153)

Entrez Gene ID	4153
Official Gene Symbol	MBL2 (GeneCards)
Full name	mannose binding lectin 2
Location	10q21.1
Other ids	Vega : OTTHUMG00000150270 MIM : 154545 HGNC : HGNC:6922 Ensembl : ENSG00000165471
Other names	MBL, MBP, MBP1, MBPD, MBL2D, MBP-C, COLEC1, HSMBPC
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]

Variants

Found 13 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
13879	4153	MBL2	10	55246400	55246400	Asymptomatic	HiSeq X Ten
13972	4153	MBL2	10	54879827	54879827	Asymptomatic	HiSeq X Ten
14166	4153	MBL2	10	55344905	55344905	Asymptomatic	HiSeq X Ten
14199	4153	MBL2	10	55113685	55113685	Asymptomatic	HiSeq X Ten
14239	4153	MBL2	10	54714573	54714573	Asymptomatic	HiSeq X Ten
14362	4153	MBL2	10	55302062	55302062	Asymptomatic	HiSeq X Ten
14363	4153	MBL2	10	55302064	55302064	Asymptomatic	HiSeq X Ten
14835	4153	MBL2	10	55320025	55320025	Cockayne syndrome	HiSeq X Ten
14937	4153	MBL2	10	55056518	55056518	Xeroderma Pigmentosum	HiSeq X Ten
27030	4153	MBL2	10	54611294	54611294	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27031	4153	MBL2	10	55048061	55048061	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27048	4153	MBL2	10	54753354	54753354	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27126	4153	MBL2	10	55539697	55539697	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning