CLEC2B (C-Type Lectin Domain Family 2 Member B)

A C-type lectin receptor involved in immune regulation and platelet activation

Gene Information Card

Symbol CLEC2B
Full Name C-type lectin domain family 2 member B
Gene Type protein-coding
Chromosomal Location 12p13.31
NCBI Gene ID 9976 ncbi.nlm.nih.gov/gene/9976
Ensembl ID ENSG00000110848
UniProt ID Q9P126
OMIM ID 603809
HGNC ID 2055
Aliases AICL, CLECSF2, HP10085

Description

CLEC2B encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded protein is a type II transmembrane glycoprotein that functions as a receptor for the platelet receptor CLEC2 (CLEC1B) and is involved in platelet activation, immune cell adhesion, and natural killer (NK) cell activation. It is expressed on various immune cells and platelets.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Platelet-type bleeding disorder Loss of CLEC2B binding to CLEC1B impairs platelet aggregation ClinVar
Infectious diseases (e.g., HIV) CLEC2B mediates HIV-1 capture and transfer to T cells NCBI Gene
Cancer (e.g., leukemia) Altered CLEC2B expression may affect immune surveillance COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Spleen 12.5 Medium
Lung 8.3 Low
Whole blood 6.1 Low
Bone marrow 5.4 Low
Cell Line Expression
Cell Line nTPM Notes
K-562 (leukemia) 15.2 High expression
HEK 293 2.1 Low expression
Jurkat (T-cell) 9.8 Moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.256G>A (p.Gly86Ser) Missense <0.01% Unknown functional effect
c.421C>T (p.Arg141Trp) Missense <0.01% Potential loss of binding
Mutation functional classification

Loss of Function (LOF)

Missense variants in the C-type lectin domain may disrupt ligand binding.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

Not documented.

Gene Ontology (GO)

• carbohydrate binding • cell adhesion
• immune response • platelet activation
• receptor activity

Pathways

• Platelet activation
• signaling and aggregation
• Natural killer cell mediated cytotoxicity
• HIV life cycle

Protein Summary

CLEC2B is a 149-amino acid type II transmembrane protein with a single C-type lectin domain. It forms homodimers and binds to CLEC1B on platelets, triggering platelet activation. It also interacts with HIV-1 envelope glycoprotein, facilitating viral capture. The protein is expressed on myeloid cells, NK cells, and platelets.

Related Products

Product name Cat.No. Species Gene ID
CLEC2B Knockout HEK293 Cell Line EDJ-KQ6849 Human 9976 Details Get a Quote
CLEC2B Knockout HeLa Cell Line EDJ-KQ55291 Human 9976 Details Get a Quote
CLEC2B Knockout A-549 Cell Line EDJ-KQ63773 Human 9976 Details Get a Quote
CLEC2B Knockout HCT 116 Cell Line EDJ-KQ72232 Human 9976 Details Get a Quote
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