Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50489
Gene name	CD207 molecule
Gene symbol	CD207
Synonyms (NCBI Gene)	CLEC4K
Chromosome	2
Chromosome location	2p13.3
Summary	The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of super

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200837270	A>G	Pathogenic	Coding sequence variant, missense variant

110

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miRTarBase ID	miRNA	Experiments	Reference
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453661	hsa-miR-4710	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT453668	hsa-miR-5739	PAR-CLIP	23446348
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	23446348
MIRT453664	hsa-miR-765	PAR-CLIP	23446348
MIRT453663	hsa-miR-3689d	PAR-CLIP	23446348
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT453661	hsa-miR-4710	PAR-CLIP	23446348
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT453668	hsa-miR-5739	PAR-CLIP	23592263
MIRT453667	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT453666	hsa-miR-4751	PAR-CLIP	23592263
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT453664	hsa-miR-765	PAR-CLIP	23592263
MIRT453663	hsa-miR-3689d	PAR-CLIP	23592263
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT453661	hsa-miR-4710	PAR-CLIP	23592263
MIRT453660	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT453668	hsa-miR-5739	PAR-CLIP	20371350
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT453664	hsa-miR-765	PAR-CLIP	20371350
MIRT453663	hsa-miR-3689d	PAR-CLIP	20371350
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT453661	hsa-miR-4710	PAR-CLIP	20371350
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT453668	hsa-miR-5739	PAR-CLIP	23446348
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	23446348
MIRT453664	hsa-miR-765	PAR-CLIP	23446348
MIRT453663	hsa-miR-3689d	PAR-CLIP	23446348
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT453661	hsa-miR-4710	PAR-CLIP	23446348
MIRT453670	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT453669	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT453668	hsa-miR-5739	PAR-CLIP	23592263
MIRT453667	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT453666	hsa-miR-4751	PAR-CLIP	23592263
MIRT453665	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT453664	hsa-miR-765	PAR-CLIP	23592263
MIRT453663	hsa-miR-3689d	PAR-CLIP	23592263
MIRT453662	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT453661	hsa-miR-4710	PAR-CLIP	23592263
MIRT453660	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT874070	hsa-miR-3156-3p	CLIP-seq
MIRT874071	hsa-miR-3202	CLIP-seq
MIRT874072	hsa-miR-320e	CLIP-seq
MIRT874073	hsa-miR-3921	CLIP-seq
MIRT874074	hsa-miR-4301	CLIP-seq
MIRT874075	hsa-miR-433	CLIP-seq
MIRT874076	hsa-miR-4452	CLIP-seq
MIRT874077	hsa-miR-4533	CLIP-seq
MIRT874078	hsa-miR-4653-5p	CLIP-seq
MIRT874079	hsa-miR-4684-5p	CLIP-seq
MIRT874080	hsa-miR-4760-3p	CLIP-seq
MIRT874081	hsa-miR-4766-5p	CLIP-seq
MIRT874082	hsa-miR-4768-5p	CLIP-seq
MIRT874083	hsa-miR-532-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005537	Function	D-mannose binding	TAS	10661407
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030139	Component	Endocytic vesicle	TAS	10661407
GO:0030246	Function	Carbohydrate binding	IBA
GO:0030246	Function	Carbohydrate binding	IDA	20026605
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031901	Component	Early endosome membrane	TAS
GO:0038187	Function	Pattern recognition receptor activity	IBA
GO:0051607	Process	Defense response to virus	IDA	17334373

MIM	HGNC	e!Ensembl
604862	17935	ENSG00000116031

Q9UJ71

Protein name

C-type lectin domain family 4 member K (Langerin) (CD antigen CD207)

Protein function

Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate

PDB

3C22 , 3KQG , 3P5D , 3P5E , 3P5F , 3P5G , 3P5H , 3P5I , 3P7F , 3P7G , 3P7H , 4AK8 , 4N32 , 4N33 , 4N34 , 4N35 , 4N36 , 4N37 , 4N38 , 5G6U , 7WZ8 , 7YTQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00059	Lectin_C	212 → 321	Lectin C-type domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues. {ECO:0000269|PubMed:10661407, ECO:0000269|PubMed:20026605}.

Sequence

MTVEKEAPDAHFTVDKQNISLWPREPPPKSGPSLVPGKTPTVRAALICLTLVLVASVLLQ
AVLYPRFMGTISDVKTNVQLLKGRVDNISTLDSEIKKNSDGMEAAGVQIQMVNESLGYVR
SQFLKLKTSVEKANAQIQILTRSWEEVSTLNAQIPELKSDLEKASALNTKIRALQGSLEN
MSKLLKRQNDILQVVSQGWKYFKGNFYYFSLIPKTWYSAEQFCVSRNSHLTSVTSESEQE
FLYKTAGGLIYWIGLTKAGMEGDWSWVDDTPFNKVQSVRFWIPGEPNNAGNNEHCGNIKA
PSLQAWNDAPCDKTFLFICKRPYVPSEP

Sequence length

328

Interactions

View interactions

	Reactome
			Cross-presentation of soluble exogenous antigens (endosomes)

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)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birbeck granule deficiency	Uncertain significance	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CD207-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	10562317	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	32292405	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Inhibit	24347371	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	35239653	★★★★★ ★☆☆☆☆ Found in Text Mining only
Death	Associate	35239653	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Associate	26666851	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermal Cyst	Associate	26666851	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Associate	24487271	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Inhibit	32292405	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis Langerhans Cell	Associate	17378241, 20220088, 21654633, 27729324, 27760550, 28847997, 30405183, 31493367, 31899802, 32238382, 34619771, 35768149	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	21738639, 24676666	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infections	Associate	24676666, 25070850	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	12186835, 31219660, 34359833	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keloid	Associate	22509836	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Associate	26666851	★★★★★ ★☆☆☆☆ Found in Text Mining only
Langerhans Cell Sarcoma	Associate	25837753	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Associate	14991068	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lichen Planus Oral	Associate	33550012	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Associate	33550012	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Associate	26438868	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	10562317, 17624244, 25837753, 33410565	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Associate	24742278	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sexually Transmitted Diseases	Stimulate	31619762	★★★★★ ★☆☆☆☆ Found in Text Mining only

CD207 (CD207 molecule)