|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
170482
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
C-type lectin domain family 4 member C |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CLEC4C |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
BDCA-2, BDCA2, CD303, CLECSF11, CLECSF7, DLEC, HECL, PRO34150 |
|
Chromosome
Chromosome number
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12 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12p13.31 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
| UniProt ID |
Q8WTT0
|
| Protein name |
C-type lectin domain family 4 member C (Blood dendritic cell antigen 2) (BDCA-2) (C-type lectin superfamily member 7) (Dendritic lectin) (CD antigen CD303) |
| Protein function |
Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells (PubMed:11748283, PubMed:21880719, PubMed:25995448). Specifically recognizes non-sialylated galactose-terminated biantennary glycans containing the t |
| PDB |
3WBP
,
3WBQ
,
3WBR
,
4ZES
,
4ZET
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00059
|
Lectin_C |
100 → 208 |
Lectin C-type domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Expressed in plasmacytoid dendritic cells (PDCs). Constitutively expressed in immature monocyte-derived dendritic cells (iMDDC) and is significantly down-regulated upon maturation with LPS but not with TNF-alpha. {ECO:0000269|PubMed:11 |
| Sequence |
|
| Sequence length |
213 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Amyotrophic Lateral Sclerosis |
amyotrophic lateral sclerosis |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Amyotrophic Lateral Sclerosis |
Associate
|
26943047 |
| Amyotrophic Lateral Sclerosis 2 Juvenile |
Associate
|
26943047 |
| Arthritis Juvenile |
Associate
|
37445800 |
| Autoimmune Diseases |
Associate
|
21880719 |
| Bone Marrow Diseases |
Associate
|
29415975 |
| COVID 19 |
Associate
|
35995775 |
| Dermatitis |
Stimulate
|
32954523 |
| Inflammation |
Stimulate
|
18671865 |
| Inflammation |
Associate
|
30645203, 34359833 |
| Leukemia Myeloid Acute |
Associate
|
23616009, 31876105, 33054115 |
| Lupus Erythematosus Systemic |
Associate
|
13130472, 30645203 |
| Lupus Erythematosus Systemic |
Inhibit
|
16178860 |
| Lymphatic Metastasis |
Stimulate
|
31201473 |
| Lymphoma |
Associate
|
26943047 |
| Nasopharyngeal Carcinoma |
Associate
|
20473931 |
| Neoplasms |
Associate
|
16998465, 21880719, 29415975, 33054115 |
| Neoplasms Squamous Cell |
Associate
|
24312342, 25779340, 32241840, 33687433 |
| Paroxysmal nonkinesigenic dyskinesia |
Associate
|
16077073, 21264308 |
| Polymyositis |
Associate
|
17763410 |
| Primary Graft Dysfunction |
Associate
|
34511330 |
| Prostatic stromal proliferation of uncertain malignant potential |
Associate
|
36380437 |
| Skin Diseases |
Associate
|
29415975, 30645203 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
21264308 |
| Stomach Neoplasms |
Associate
|
30936882 |
| Venous Thromboembolism |
Associate
|
34309635 |
|