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CLEC2D C-type lectin domain family 2 member D [ Homo sapiens (human) ]

Gene ID: 29121, updated on 23-Mar-2024

Summary

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Official Symbol
CLEC2Dprovided by HGNC
Official Full Name
C-type lectin domain family 2 member Dprovided by HGNC
Primary source
HGNC:HGNC:14351
See related
Ensembl:ENSG00000069493 MIM:605659; AllianceGenome:HGNC:14351
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
CLAX; LLT1; OCIL
Summary
This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010]
Expression
Broad expression in lymph node (RPKM 24.3), appendix (RPKM 12.2) and 24 other tissues See more
Orthologs
all
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Genomic context

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See CLEC2D in Genome Data Viewer
Location:
12p13.31
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (9669713..9699553)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (9555955..9585762)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9822309..9852149)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene C-type lectin domain family 2 member D pseudogene Neighboring gene uncharacterized LOC105369728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5946 Neighboring gene GOT2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5948 Neighboring gene nucleophosmin 1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4231 Neighboring gene long intergenic non-protein coding RNA 2390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4233 Neighboring gene C-type lectin like 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4234

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Lectin-like transcript 1 (LLT1) expression is associated with nodal metastasis in patients with head and neck cutaneous squamous cell carcinoma. Santos-Juanes J, et al. Arch Dermatol Res, 2019 Jul. PMID 30955082
  2. Expression of Lectin-Like Transcript 1, the Ligand for CD161, in Rheumatoid Arthritis. Chalan P, et al. PLoS One, 2015. PMID 26147876, Free PMC Article
  3. Four crystal structures of human LLT1, a ligand of human NKR-P1, in varied glycosylation and oligomerization states. Skálová T, et al. Acta Crystallogr D Biol Crystallogr, 2015 Mar. PMID 25760607, Free PMC Article
  4. The Asn19Lys substitution in the osteoclast inhibitory lectin (OCIL) gene is associated with a reduction of bone mineral density in postmenopausal women. Pineda B, et al. Calcif Tissue Int, 2008 May. PMID 18465072
  5. The LLT1 receptor induces IFN-gamma production by human natural killer cells. Mathew PA, et al. Mol Immunol, 2004 Mar. PMID 15104121

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immune checkpoint CD161/LLT1-associated immunological landscape and diagnostic value in oral squamous cell carcinoma.
    Title: Immune checkpoint CD161/LLT1-associated immunological landscape and diagnostic value in oral squamous cell carcinoma.
  2. SARS-CoV-2 infection impairs NK cell functions via activation of the LLT1-CD161 axis.
    Title: SARS-CoV-2 infection impairs NK cell functions via activation of the LLT1-CD161 axis.
  3. LLT1-CD161 Interaction in Cancer: Promises and Challenges.
    Title: LLT1-CD161 Interaction in Cancer: Promises and Challenges.
  4. Role of LLT1 and PCNA as Natural Killer Cell Immune Evasion Strategies of HCT 116 Cells.
    Title: Role of LLT1 and PCNA as Natural Killer Cell Immune Evasion Strategies of HCT 116 Cells.
  5. Docetaxel suppresses immunotherapy efficacy of natural killer cells toward castration-resistant prostate cancer cells via altering androgen receptor-lectin-like transcript 1 signals.
    Title: Docetaxel suppresses immunotherapy efficacy of natural killer cells toward castration-resistant prostate cancer cells via altering androgen receptor-lectin-like transcript 1 signals.
  6. The authors identify Clec2d as a sensor for cell death through histone recognition and show that such interaction in macrophages shuttles histone-DNA complexes into endosomes to stimulate toll-like receptors. The consequent inflammation amplifies collateral tissue damage in a liver injury model.
    Title: Immune Sensing of Cell Death through Recognition of Histone Sequences by C-Type Lectin-Receptor-2d Causes Inflammation and Tissue Injury.
  7. LLT1 strong expression was a significant risk factor for nodal metastasis in patients with head and neck cutaneous squamous cell carcinoma (cSCC) and for cSCC specific mortality. Strong LLT1 expression is an independent predictor of nodal metastasis and poor disease-specific survival and it might be helpful for risk stratification of patients with cSCC.
    Title: Lectin-like transcript 1 (LLT1) expression is associated with nodal metastasis in patients with head and neck cutaneous squamous cell carcinoma.
  8. REVIEW: Biological and Clinical Significance of Human NKRP1A/LLT1 Receptor/Ligand Interactions
    Title: Biological and Clinical Significance of Human NKRP1A/LLT1 Receptor/Ligand Interactions.
  9. These results show that susceptibility of normal articular chondrocytes to lysis by NK cells is modulated by NKR-P1A/LLT1 interactions. Thus, NKR-P1A/LLT1 interaction might provide some novel target for therapeutic interventions in the course of pathological cartilage injury.
    Title: A Role of NKR-P1A (CD161) and Lectin-like Transcript 1 in Natural Cytotoxicity against Human Articular Chondrocytes.
  10. Blocking LLT1-NKRP1A interaction will make prostate cancer cells susceptible to killing by NK cells, suggesting a therapeutic option for treatment of prostate cancer.
    Title: Overexpression of LLT1 (OCIL, CLEC2D) on prostate cancer cells inhibits NK cell-mediated killing through LLT1-NKRP1A (CD161) interaction.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of C-type lectin domain family 2, member D (CLEC2D) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane TAS
Traceable Author Statement
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 D
Names
C-type lectin related f
C-type lectin superfamily 2, member D
LLT-1
lectin-like NK cell receptor
lectin-like transcript 1
osteoclast inhibitory 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)

  1. NM_001004419.5 → NP_001004419.1  C-type lectin domain family 2 member D isoform 2

    See identical proteins and their annotated locations for NP_001004419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an additional exon, compared to variant 1, that causes a frameshift. The resulting isoform (2) is longer and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007068, AF285089, DA814760
    Consensus CDS
    CCDS31741.1
    UniProtKB/TrEMBL
    W8JD10
    Related
    ENSP00000261340.7, ENST00000261340.11
    Conserved Domains (1) summary
    cd03593
    Location:75 → 171
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  2. NM_001197317.3 → NP_001184246.1  C-type lectin domain family 2 member D isoform 3

    See identical proteins and their annotated locations for NP_001184246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC007068, DB111977, FN813350
    Consensus CDS
    CCDS55801.1
    UniProtKB/TrEMBL
    W8JE22, W8JXM2
    Related
    ENSP00000261339.6, ENST00000261339.10
    Conserved Domains (1) summary
    PHA02642
    Location:28 → 150
    PHA02642; C-type lectin-like protein; Provisional

  3. NM_001197318.3 → NP_001184247.1  C-type lectin domain family 2 member D isoform 4

    See identical proteins and their annotated locations for NP_001184247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 3' region, compared to variant 1, that causes a frame-shift. The resulting isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007068, DB124897, FN813349
    Consensus CDS
    CCDS55800.1
    UniProtKB/TrEMBL
    W8JNK3
    Related
    ENSP00000443065.1, ENST00000543300.5
    Conserved Domains (1) summary
    cl02432
    Location:75 → 119
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

  4. NM_001197319.3 → NP_001184248.1  C-type lectin domain family 2 member D isoform 5

    See identical proteins and their annotated locations for NP_001184248.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon in the 5' region and an exon in the 3' region, compared to variant 1, that causes a frame-shift. The resulting isoform (5) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007068, DB111977, FN813351
    Consensus CDS
    CCDS55802.1
    UniProtKB/TrEMBL
    W8T7N2
    Related
    ENSP00000444818.1, ENST00000545918.5
    Conserved Domains (1) summary
    cl02432
    Location:38 → 82
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

  5. NM_013269.6 → NP_037401.1  C-type lectin domain family 2 member D isoform 1

    See identical proteins and their annotated locations for NP_037401.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most frequently occurring transcript. It encodes isoform 1.
    Source sequence(s)
    AC007068, AK313554, DB111977
    Consensus CDS
    CCDS8602.1
    UniProtKB/Swiss-Prot
    D6CI39, D6CI40, D6CI41, Q6YID5, Q8WUP7, Q9HD37, Q9HD38, Q9UHP7
    UniProtKB/TrEMBL
    W8JE22
    Related
    ENSP00000290855.6, ENST00000290855.11
    Conserved Domains (1) summary
    cl25419
    Location:65 → 187
    PHA02642; C-type lectin-like protein; Provisional

RNA

  1. NR_036693.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has an additional segment and lacks an exon in the 3' region, compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and probably does not make a functional protein.
    Source sequence(s)
    AC007068, AK310554, DB111977

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    9669713..9699553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    9555955..9585762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001004420.1: Suppressed sequence

    Description
    NM_001004420.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHP7.1 GenPept UniProtKB/Swiss-Prot:Q9UHP7

Gene LinkOut

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