COLEC10 (collectin subfamily member 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10584
Gene name Gene Name - the full gene name approved by the HGNC.
Collectin subfamily member 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COLEC10
Synonyms (NCBI Gene) Gene synonyms aliases
3MC3, CL-10, CL-34, CLL1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607620 2220 ENSG00000184374
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
EGKHGKVGRMGPKGIKGELGDMGDQGNIGKTGPIGKKGDKGEKGLLGIPGEKGKAGTVCD
CGRYRKFVGQLDISIARLKTSMKFVKNVIAGIRETEEKFYYIVQEEKNYRESLTHCRIRG
GMLAMPKDEAANTLIADYVAKSGFFRVFIGVNDLEREGQYMFTDNTPLQNYSNWNEGEPS
DPYGHEDCVEMLSSGRWNDTECHLTMYFVCEFIKKKK
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Lectin pathway of complement activation
Initial triggering of complement
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
3MC syndrome 3MC syndrome 3 rs149010496, rs1060505022, rs773764995 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Age of onset of childhood onset asthma N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Nasal polyposis Nasal polyps N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (35)
Associations from Text Mining Disease 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