CLEC2B C-type lectin domain family 2 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLEC2Bprovided by HGNC
Official Full Name: C-type lectin domain family 2 member Bprovided by HGNC
Primary source: HGNC:HGNC:2053
See related: Ensembl:ENSG00000110852 MIM:603242; AllianceGenome:HGNC:2053
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AICL; IFNRG1; CLECSF2; HP10085
Summary: This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
Expression: Broad expression in skin (RPKM 19.0), bone marrow (RPKM 18.7) and 22 other tissues See more
Orthologs: all
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Genomic context

Location:: 12p13.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (9852369..9869354, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (9738573..9755567, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10004968..10021953, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between c-type lectin-like receptor 2 and microsatellite instability in colorectal cancer: a cross-sectional study.
Title: Association between c-type lectin-like receptor 2 and microsatellite instability in colorectal cancer: a cross-sectional study.
Plasma soluble C-type lectin-like receptor-2 is associated with the risk of coronary artery disease.
Title: Plasma soluble C-type lectin-like receptor-2 is associated with the risk of coronary artery disease.
our data demonstrate that AICL expression and surfacing are tightly controlled by several independent cellular posttranslational mechanisms.
Title: Cellular Mechanisms Controlling Surfacing of AICL Glycoproteins, Cognate Ligands of the Activating NK Receptor NKp80.
Review of C-type lectin-like receptor 2 and podoplanin interactions [review]
Title: Physiologic and pathophysiologic roles of interaction between C-type lectin-like receptor 2 and podoplanin: partners from in utero to adulthood.
Data suggest that vascular smooth muscle cells (VSMCs) stimulate platelets through platelet receptor CLEC-2, possibly leading to thrombus formation after plaque erosion.
Title: Vascular Smooth Muscle Cells Stimulate Platelets and Facilitate Thrombus Formation through Platelet CLEC-2: Implications in Atherothrombosis.
Lipid rafts do not directly contribute to CLEC-2 receptor activation in platelets.
Title: C-type lectin like receptor 2 (CLEC-2) signals independently of lipid raft microdomains in platelets.
our data report a previously unrecognized regulatory circuit enabling autonomous control of human NK cell responses via the NKp80-AICL axis.
Title: Genetically coupled receptor-ligand pair NKp80-AICL enables autonomous control of human NK cell responses.
expressed in primary liver cancers
Title: Tumor cells of non-hematopoietic and hematopoietic origins express activation-induced C-type lectin, the ligand for killer cell lectin-like receptor F1.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
NKp80 is expressed on a highly responsive subset of effector memory CD8 T cells with an inflammatory NK-like phenotype and promotes T-cell responses toward AICL-expressing cells.
Title: NKp80 defines and stimulates a reactive subset of CD8 T cells.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119397 (e-PCR)
- UniSTS:132939

SHGC-84624 (e-PCR)
- UniSTS:104346

WI-14884 (e-PCR)
- UniSTS:36031

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in NK T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: C-type lectin domain family 2 member B

Names: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced); C-type lectin superfamily member 2; IFN-alpha-2b-inducing-related protein 1; IFN-alpha2b-inducing related protein 1; activation-induced C-type lectin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005127.3 → NP_005118.2 C-type lectin domain family 2 member B

See identical proteins and their annotated locations for NP_005118.2

Status: REVIEWED

Source sequence(s)

AC007068, AK313916, BM973072

Consensus CDS

CCDS8605.1

UniProtKB/Swiss-Prot

B2R9U1, Q8IZE9, Q92478, Q9BS74, Q9UQB4

Related

ENSP00000228438.2, ENST00000228438.3

Conserved Domains (2) summary

cd03593
Location:35 → 146

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

pfam05473
Location:8 → 47

UL45; UL45 protein, carbohydrate-binding C-type lectin-like