Gene Gene information from NCBI Gene database.
Entrez ID 10584
Gene name Collectin subfamily member 10
Gene symbol COLEC10
Synonyms (NCBI Gene)
3MC3CL-10CL-34CLL1
Chromosome 8
Chromosome location 8q24.12
Summary This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs773764995 C>G Pathogenic Missense variant, coding sequence variant
rs1060505022 A>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
83
miRTarBase ID miRNA Experiments Reference
MIRT019184 hsa-miR-335-5p Microarray 18185580
MIRT723323 hsa-miR-664a-3p HITS-CLIP 19536157
MIRT723322 hsa-miR-103a-2-5p HITS-CLIP 19536157
MIRT723321 hsa-miR-3977 HITS-CLIP 19536157
MIRT723320 hsa-miR-1279 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001867 Process Complement activation, lectin pathway IDA 24174618
GO:0001867 Process Complement activation, lectin pathway IEA
GO:0002752 Process Cell surface pattern recognition receptor signaling pathway NAS 24174618
GO:0005515 Function Protein binding IPI 24174618
GO:0005537 Function D-mannose binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607620 2220 ENSG00000184374
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6Z7
Protein name Collectin-10 (Collectin liver protein 1) (CL-L1) (Collectin-34) (CL-34)
Protein function Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine (PubMed:10224141). Acts as a chemoattractant, probably involved in the regulation of cell migration (PubMed:28301481). {ECO:0000269|P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 43 96 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 62 123 Collagen triple helix repeat (20 copies) Repeat
PF00059 Lectin_C 165 272 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver, placenta and adrenal gland. Moderately expressed in small intestine, lung, stomach and prostate. Weakly expressed in trachea and spleen. {ECO:0000269|PubMed:10224141}.
Sequence
MNGFASLLRRNQFILLVLFLLQIQSLGLDIDSRPTAEVCATHTISPGPKGDDGEKGDPGE
E
GKHGKVGRMGPKGIKGELGDMGDQGNIGKTGPIGKKGDKGEKGLLGIPGEKGKAGTVCD
CGR
YRKFVGQLDISIARLKTSMKFVKNVIAGIRETEEKFYYIVQEEKNYRESLTHCRIRG
GMLAMPKDEAANTLIADYVAKSGFFRVFIGVNDLEREGQYMFTDNTPLQNYSNWNEGEPS
DPYGHEDCVEMLSSGRWNDTECHLTMYFVCEF
IKKKK
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Lectin pathway of complement activation
Initial triggering of complement
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
3MC syndrome 3 Pathogenic rs149010496, rs1060505022, rs773764995, rs749987061 RCV000477687
RCV000477723
RCV000477667
RCV001281376
COLEC10-related disorder Pathogenic rs149010496 RCV003942582
See cases Pathogenic rs149010496 RCV002252136
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 24886600, 26350950
Breast Neoplasms Associate 26218592, 36346787
Carcinoma Hepatocellular Associate 32311840
Carcinoma Hepatocellular Inhibit 36925047
Cerebral Infarction Associate 27874938
Cerebrovascular Disorders Associate 27874938
COVID 19 Associate 35511137
Dental Caries Associate 31995419
Diabetes Mellitus Type 2 Associate 26579581
Diabetic Foot Associate 26579581