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

Show/Hide all (110)

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

Show/Hide all (14)

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 (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult type dermatomyositis	Dermatomyositis	BEFREE	23118112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29307572		★★★★★ ★☆☆☆☆ Found in Text Mining only
BIRBECK GRANULE DEFICIENCY	Birbeck Granule Deficiency	UNIPROT_DG	15816828, 16567809		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Neoplasms	Breast neoplasm	Pubtator	10562317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32292405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	20420706, 24742278, 30025865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24347371	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	28670252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25631199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	27964879, 31219660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	25282566, 28739399, 29851146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	23118112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	28441413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	25282566, 28739399, 29851146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	24487271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	32292405	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	16718746, 20220088, 21654633, 24638167, 25202140, 27041734, 28521873, 30281871, 30296338, 31527903, 31661070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	LHGDN	18277880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	31718599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	23118112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29306566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	14997037, 24487271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31219660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	26666851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	14991068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17624244, 31534520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33550012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26438868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	25469646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30719121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10562317, 17624244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23042745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	29307572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	31718599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	23118112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	21092071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	25282566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24742278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30025865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28885734, 30118799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24347371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waardenburg Anophthalmia Syndrome	Microphthalmia with limb anomalies	BEFREE	25631199		★★★★★ ★☆☆☆☆ Found in Text Mining only

CD207 (CD207 molecule)