COLEC10 (collectin subfamily member 10)

Gene

• Entrez ID: 10584
• Gene name: Collectin subfamily member 10
• Gene symbol: COLEC10
• Synonyms (NCBI Gene): 3MC3, CL-10, CL-34, CLL1
• 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 ID	Visualize variation	Clinical significance	Consequence
rs773764995	C>G	Pathogenic	Missense variant, coding sequence variant
rs1060505022	A>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

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
MIRT710622	hsa-miR-29a-3p	HITS-CLIP	19536157
MIRT710621	hsa-miR-29b-3p	HITS-CLIP	19536157
MIRT710620	hsa-miR-29c-3p	HITS-CLIP	19536157
MIRT710619	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT710618	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT710617	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT710616	hsa-miR-617	HITS-CLIP	19536157
MIRT710615	hsa-miR-7977	HITS-CLIP	19536157
MIRT551245	hsa-miR-4324	PAR-CLIP	21572407
MIRT551244	hsa-miR-544b	PAR-CLIP	21572407
MIRT551243	hsa-miR-4329	PAR-CLIP	21572407
MIRT551242	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT551241	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT551240	hsa-miR-3713	PAR-CLIP	21572407
MIRT551239	hsa-miR-3672	PAR-CLIP	21572407
MIRT551238	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT551237	hsa-miR-628-5p	PAR-CLIP	21572407
MIRT551236	hsa-miR-8070	PAR-CLIP	21572407
MIRT551235	hsa-miR-3149	PAR-CLIP	21572407
MIRT551234	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT551233	hsa-miR-507	PAR-CLIP	21572407
MIRT551232	hsa-miR-557	PAR-CLIP	21572407
MIRT551231	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT551230	hsa-miR-129-5p	PAR-CLIP	21572407
MIRT551229	hsa-miR-7976	PAR-CLIP	21572407
MIRT538427	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT538426	hsa-miR-4422	PAR-CLIP	22012620
MIRT538425	hsa-miR-6873-5p	PAR-CLIP	22012620
MIRT538424	hsa-miR-4519	PAR-CLIP	22012620
MIRT538423	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT538422	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT538421	hsa-miR-877-5p	PAR-CLIP	22012620
MIRT538420	hsa-miR-6866-5p	PAR-CLIP	22012620
MIRT538419	hsa-miR-1303	PAR-CLIP	22012620
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
MIRT710622	hsa-miR-29a-3p	HITS-CLIP	19536157
MIRT710621	hsa-miR-29b-3p	HITS-CLIP	19536157
MIRT710620	hsa-miR-29c-3p	HITS-CLIP	19536157
MIRT710619	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT710618	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT710617	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT710616	hsa-miR-617	HITS-CLIP	19536157
MIRT710615	hsa-miR-7977	HITS-CLIP	19536157
MIRT551245	hsa-miR-4324	PAR-CLIP	21572407
MIRT551244	hsa-miR-544b	PAR-CLIP	21572407
MIRT551243	hsa-miR-4329	PAR-CLIP	21572407
MIRT551242	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT551241	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT551240	hsa-miR-3713	PAR-CLIP	21572407
MIRT551239	hsa-miR-3672	PAR-CLIP	21572407
MIRT551238	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT551237	hsa-miR-628-5p	PAR-CLIP	21572407
MIRT551236	hsa-miR-8070	PAR-CLIP	21572407
MIRT551235	hsa-miR-3149	PAR-CLIP	21572407
MIRT551234	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT551233	hsa-miR-507	PAR-CLIP	21572407
MIRT551232	hsa-miR-557	PAR-CLIP	21572407
MIRT551231	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT551230	hsa-miR-129-5p	PAR-CLIP	21572407
MIRT551229	hsa-miR-7976	PAR-CLIP	21572407
MIRT538427	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT538426	hsa-miR-4422	PAR-CLIP	22012620
MIRT538425	hsa-miR-6873-5p	PAR-CLIP	22012620
MIRT538424	hsa-miR-4519	PAR-CLIP	22012620
MIRT538423	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT538422	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT538421	hsa-miR-877-5p	PAR-CLIP	22012620
MIRT538420	hsa-miR-6866-5p	PAR-CLIP	22012620
MIRT538419	hsa-miR-1303	PAR-CLIP	22012620
MIRT903255	hsa-miR-489	CLIP-seq
MIRT903256	hsa-miR-514	CLIP-seq
MIRT903257	hsa-miR-514b-3p	CLIP-seq
MIRT903258	hsa-miR-579	CLIP-seq
MIRT2203664	hsa-miR-513a-5p	CLIP-seq
MIRT2203665	hsa-miR-548p	CLIP-seq

Gene ontology (GO)

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
GO:0005537	Function	D-mannose binding	TAS	10224141
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	28301481
GO:0005615	Component	Extracellular space	NAS	25912189
GO:0005737	Component	Cytoplasm	IDA	10224141
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006508	Process	Proteolysis	IDA	24174618
GO:0009897	Component	External side of plasma membrane	NAS	25912189
GO:0030246	Function	Carbohydrate binding	IEA
GO:0042056	Function	Chemoattractant activity	IDA	28301481
GO:0050918	Process	Positive chemotaxis	IEA
GO:1903028	Process	Positive regulation of opsonization	IDA	24174618
GO:1903028	Process	Positive regulation of opsonization	IEA
GO:1904888	Process	Cranial skeletal system development	IMP	28301481
GO:1905370	Component	Serine-type endopeptidase complex	NAS	24174618

Other IDs

• MIM: 607620
• HGNC: 2220
• e!Ensembl: ENSG00000184374

Protein

• 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

Pathways

Reactome:

Lectin pathway of complement activation
Initial triggering of complement

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
3MC syndrome 3	Pathogenic	rs149010496, rs1060505022, rs773764995, rs749987061	RCV000477687 RCV000477723 RCV000477667 RCV001281376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLEC10-related disorder	Pathogenic	rs149010496	RCV003942582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
3MC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ULNAR RENAL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALPUECH FACIAL CLEFTING SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3MC syndrome	3MC syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15548716		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	31055076		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24886600, 26350950	Associate	★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26218592, 36346787	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32311840	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36925047	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27874938	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	27874938	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25495265, 25786252, 30338367		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial ulnar renal syndrome	Craniofacial Ulnar Renal Syndrome	ORPHANET_DG	28301481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	31995419	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26579581	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	26579581	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25019155	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36346787	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias, penoscrotal	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	37532711	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30848055	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27506934, 30848055	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27908880, 28676343, 28810819, 29077054, 29206680, 29316944, 29959143, 30037800, 30848055, 31014360, 31055076		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	24886600	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	9192768		★☆☆☆☆ Found in Text Mining only
Malpuech facial clefting syndrome	Malpuech Facial Clefting Syndrome	GENOMICS_ENGLAND_DG	21258343, 28301481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malpuech facial clefting syndrome	Malpuech Facial Clefting Syndrome	UNIPROT_DG	28301481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malpuech facial clefting syndrome	Malpuech facial clefting syndrome	Pubtator	34636477	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malpuech facial clefting syndrome	Malpuech Facial Clefting Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malpuech facial clefting syndrome	Malpuech Facial Clefting Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	24579978		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	23321251		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23321251		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29212847	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15548716		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	39451173	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2841846, 30037800, 9192768		★☆☆☆☆ Found in Text Mining only
Oculopalatoskeletal syndrome	Oculopalatosekeletal syndrome	Pubtator	32441374, 34636477	Associate	★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	30972968	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	22824048, 33755955	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15548716		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	23321251		★☆☆☆☆ Found in Text Mining only