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	78989
Gene name	Collectin subfamily member 11
Gene symbol	COLEC11
Synonyms (NCBI Gene)	3MC2CL-11CL-K1-ICL-K1-IICL-K1-IIaCL-K1-IIbCLK1
Chromosome	2
Chromosome location	2p25.3
Summary	This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydra

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1572389284	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
MIRT1920362	hsa-miR-3065-3p	CLIP-seq
MIRT1920363	hsa-miR-3919	CLIP-seq
MIRT1920364	hsa-miR-4756-3p	CLIP-seq
MIRT1920365	hsa-miR-4778-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001867	Process	Complement activation, lectin pathway	IDA	24174618
GO:0001867	Process	Complement activation, lectin pathway	IEA
GO:0001867	Process	Complement activation, lectin pathway	IMP	25912189
GO:0002376	Process	Immune system process	IEA
GO:0002752	Process	Cell surface pattern recognition receptor signaling pathway	NAS	24174618
GO:0003677	Function	DNA binding	IDA	20956340, 23954398
GO:0005509	Function	Calcium ion binding	IDA	25912189
GO:0005515	Function	Protein binding	IPI	20956340, 24174618, 32041782, 32045104
GO:0005537	Function	D-mannose binding	IDA	20956340, 25912189
GO:0005537	Function	D-mannose binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	25912189
GO:0005615	Component	Extracellular space	NAS	25912189
GO:0006508	Process	Proteolysis	IDA	24174618
GO:0006956	Process	Complement activation	IDA	23954398
GO:0009897	Component	External side of plasma membrane	NAS	25912189
GO:0019730	Process	Antimicrobial humoral response	IDA	20956340
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032502	Process	Developmental process	ISS
GO:0042802	Function	Identical protein binding	IPI	20956340, 24174618
GO:0042806	Function	Fucose binding	IDA	20956340
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070492	Function	Oligosaccharide binding	IDA	25912189
GO:0097194	Process	Execution phase of apoptosis	IC	23954398
GO:0120153	Function	Calcium-dependent carbohydrate binding	IDA	25912189
GO:1903028	Process	Positive regulation of opsonization	IDA	24174618
GO:1903028	Process	Positive regulation of opsonization	IEA
GO:1905370	Component	Serine-type endopeptidase complex	NAS	24174618

MIM	HGNC	e!Ensembl
612502	17213	ENSG00000118004

Q9BWP8

Protein name

Collectin-11 (Collectin kidney protein 1) (CL-K1)

Protein function

Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:21258343, PubMed:23954398, PubMed:25912189). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at le

PDB

4YLI , 4YMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	21 → 93	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	62 → 116	Collagen triple helix repeat (20 copies)	Repeat
PF00059	Lectin_C	159 → 266	Lectin C-type domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:17179669). Detected in adrenal gland, kidney, liver, ovaries and testis (at protein level) (PubMed:20956340). {ECO:0000269|PubMed:17179669, ECO:0000269|PubMed:20956340}.

Sequence

MRGNLALVGVLISLAFLSLLPSGHPQPAGDDACSVQILVPGLKGDAGEKGDKGAPGRPGR
VGPTGEKGDMGDKGQKGSVGRHGKIGPIGSKGEKGDSGDIGPPGPNGEPGLPCECSQLRK
AIGEMDNQVSQLTSELKFIKNAVAGVRETESKIYLLVKEEKRYADAQLSCQGRGGTLSMP
KDEAANGLMAAYLAQAGLARVFIGINDLEKEGAFVYSDHSPMRTFNKWRSGEPNNAYDEE
DCVEMVASGGWNDVACHTTMYFMCEFDKENM

Sequence length

271

Interactions

View interactions

	KEGG		Reactome
	Phagosome		Lectin pathway of complement activation Initial triggering of complement Scavenging by Class A Receptors

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3MC syndrome	Pathogenic	rs2528243821	RCV003994655
3MC syndrome 2	Pathogenic	rs387907075, rs1572389284, rs387907076, rs2147975970	RCV000023959 RCV000023960 RCV000023961 RCV000023962
Malignant tumor of urinary bladder	Pathogenic	rs387907076	RCV005888659

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
COLEC11-related disorder	Likely benign; Uncertain significance	rs141570591, rs139694918, rs899568387, rs2528258846, rs149123195, rs553743194, rs113532503, rs1292599300, rs561328335, rs200901540, rs200835001, rs201886374, rs1466593948, rs200557360, rs765090666 View all (6 more)	RCV003953928 RCV003961228 RCV003981428 RCV003901551 RCV003912004 RCV003912229 RCV003897201 RCV003951901 RCV003964135 RCV003927158 RCV003936980 RCV003934248 RCV003957209 RCV003967110 RCV003969460 RCV003969104 RCV003962224 RCV003976430 RCV003920583 RCV003977944 RCV003958226
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs767854958	RCV005930621

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33728331
Autoimmune Diseases	Stimulate	34539672
Autoimmune Diseases of the Nervous System	Associate	30286468
Colorectal Neoplasms	Associate	37691929
COVID 19	Associate	33584662, 35511137
Diabetic Nephropathies	Associate	31537649
Fibrosis	Associate	34615657
Frontotemporal Dementia	Associate	34539672
Glomerulonephritis IGA	Associate	34615657
Kidney Diseases	Associate	34615657
Lung Neoplasms	Associate	33728331
Malpuech facial clefting syndrome	Associate	34636477
Mannose Binding Protein Deficiency	Associate	39464884
Neoplasm Metastasis	Inhibit	33728331
Neoplasm Metastasis	Associate	39838423
Oculopalatoskeletal syndrome	Associate	32441374
Oral Ulcer	Associate	38159276
Premature Birth	Associate	39464884
Preterm Premature Rupture of the Membranes	Associate	39464884
Respiratory Distress Syndrome	Associate	39464884
Severe Acute Respiratory Syndrome	Associate	38573776

COLEC11 (collectin subfamily member 11)