CLEC4A (C-type lectin domain family 4 member A)

Gene

• Entrez ID: 50856
• Gene name: C-type lectin domain family 4 member A
• Gene symbol: CLEC4A
• Synonyms (NCBI Gene): CD367, CLECSF6, DCIR, DDB27, HDCGC13P, LLIR, hDCIR
• Chromosome: 12
• Chromosome location: 12p13.31
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2504474	hsa-miR-1178	CLIP-seq
MIRT2504474	hsa-miR-1178	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IDA	18258799
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002470	Process	Plasmacytoid dendritic cell antigen processing and presentation	IDA	18258799, 20530286
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	10438934
GO:0005509	Function	Calcium ion binding	IDA	27015765
GO:0005537	Function	D-mannose binding	IDA	27015765
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10438934
GO:0007155	Process	Cell adhesion	TAS	10438934
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	10438934
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IBA
GO:0030246	Function	Carbohydrate binding	IDA	27015765
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	18258799
GO:0036037	Process	CD8-positive, alpha-beta T cell activation	IDA	20530286
GO:0038187	Function	Pattern recognition receptor activity	IBA
GO:0042590	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I	IDA	20530286
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061760	Process	Antifungal innate immune response	IBA

Other IDs

• MIM: 605306
• HGNC: 13257
• e!Ensembl: ENSG00000111729

Protein

• UniProt ID: Q9UMR7
• Protein name: C-type lectin domain family 4 member A (C-type lectin DDB27) (C-type lectin superfamily member 6) (Dendritic cell immunoreceptor) (Lectin-like immunoreceptor) (CD antigen CD367)
• Protein function: C-type lectin receptor that binds carbohydrates mannose and fucose but also weakly interacts with N-acetylglucosamine (GlcNAc) in a Ca(2+)-dependent manner (PubMed:27015765). Involved in regulating immune reactivity (PubMed:10438934, PubMed:1825
• PDB: 5B1W, 5B1X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	123 → 232	Lectin C-type domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed preferentially in hematopoietic tissues. Expressed in all circulating Ag-presenting cells such as dendritic cells, myeloid cells, monocytes, macrophages, B-cells and epidermal Langerhans cells (at protein level). Expressed in
• Sequence:

  MTSEITYAEVRFKNEFKSSGINTASSAASKERTAPHKSNTGFPKLLCASLLIFFLLLAIS
  FFIAFVIFFQKYSQLLEKKTTKELVHTTLECVKKNMPVEETAWSCCPKNWKSFSSNCYFI
  STESASWQDSEKDCARMEAHLLVINTQEEQDFIFQNLQEESAYFVGLSDPEGQRHWQWVD
  QTPYNESSTFWHPREPSDPNERCVVLNFRKSPKRWGWNDVNCLGPQRSVCEMMKIHL

• Sequence length: 237

Pathways

Reactome:

Dectin-2 family

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21085612, 22829930	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18250113, 18480830, 22829930, 26429306		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22829930	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20976171	Inhibit	★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	34686774	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	28440726		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22664939		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26429306		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12716467	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36353633	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17665455, 18250113, 18480830, 21085612, 22829930, 26429306		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17665455		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22664939		★☆☆☆☆ Found in Text Mining only