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 their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have diff... See more...

Aliases for COLEC10 Gene

Aliases for COLEC10 Gene

  • Collectin Subfamily Member 10 2 3 5
  • Collectin Sub-Family Member 10 (C-Type Lectin) 2 3
  • Collectin Liver Protein 1 3 4
  • Collectin-10 3 4
  • Collectin-34 3 4
  • CL-34 3 4
  • CL-L1 2 4
  • CLL1 3 4
  • Collectin Liver 1 3
  • COLEC10 5
  • 3MC3 3

External Ids for COLEC10 Gene

Previous GeneCards Identifiers for COLEC10 Gene

  • GC08P119066
  • GC08U900019
  • GC08P119676
  • GC08P120036
  • GC08P120148
  • GC08P115407
  • GC08P120007

Summaries for COLEC10 Gene

Entrez Gene Summary for COLEC10 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 their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]

GeneCards Summary for COLEC10 Gene

COLEC10 (Collectin Subfamily Member 10) is a Protein Coding gene. Diseases associated with COLEC10 include 3Mc Syndrome 3 and 3Mc Syndrome. Among its related pathways are Innate Immune System and Creation of C4 and C2 activators. Gene Ontology (GO) annotations related to this gene include mannose binding. An important paralog of this gene is COLEC11.

UniProtKB/Swiss-Prot Summary for COLEC10 Gene

  • 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COLEC10 Gene

Genomics for COLEC10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COLEC10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J118948 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 262.7 -1.9 -1943 5.4 ZNF207 POLR2A ZIC2 CTCF NR2C1 SIN3A ELF1 ZNF316 SMARCA5 BHLHE40 COLEC10 TNFRSF11B RNU6-12P ENSG00000254247 HSALNG0068018 SAMD12
GH08J118902 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 262.4 -47.7 -47732 5 JUND CEBPB DEK MAX EP300 GABPA RAD21 RFX5 SMC3 STAT3 COLEC10 RNU6-12P ENSG00000254247 HSALNG0068018 TNFRSF11B SAMD12 SAMD12-AS1
GH08J119067 Promoter 0.5 EPDnew 250.1 +115.0 114995 0.1 IKZF2 NR2F2 LOC101927513 COLEC10 lnc-MAL2-1 MAL2
GH08J118953 Promoter 0.3 Ensembl 250.7 +0.9 867 0.2 COLEC10 TNFRSF11B RF00026-1053 RNU6-12P MAL2
GH08J118750 Promoter 0.3 EPDnew 250.1 -202.0 -201999 0.1 COLEC10 lnc-SAMD12-1 RPS26P35 SAMD12 SAMD12-AS1 TNFRSF11B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COLEC10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COLEC10

Top Transcription factor binding sites by QIAGEN in the COLEC10 gene promoter:
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • HFH-3
  • LCR-F1
  • POU2F1
  • POU2F1a
  • RP58
  • STAT5A

Genomic Locations for COLEC10 Gene

Latest Assembly
chr8:118,952,233-119,108,455
(GRCh38/hg38)
Size:
156,223 bases
Orientation:
Plus strand

Previous Assembly
chr8:119,964,502-120,120,694
(GRCh37/hg19 by Entrez Gene)
Size:
156,193 bases
Orientation:
Plus strand

chr8:120,007,691-120,118,821
(GRCh37/hg19 by Ensembl)
Size:
111,131 bases
Orientation:
Plus strand

Genomic View for COLEC10 Gene

Genes around COLEC10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COLEC10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COLEC10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COLEC10 Gene

Proteins for COLEC10 Gene

  • Protein details for COLEC10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Z7-COL10_HUMAN
    Recommended name:
    Collectin-10
    Protein Accession:
    Q9Y6Z7
    Secondary Accessions:
    • Q3SYH6
    • Q6UW19

    Protein attributes for COLEC10 Gene

    Size:
    277 amino acids
    Molecular mass:
    30705 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COLEC10 Gene

Post-translational modifications for COLEC10 Gene

  • Glycosylation at Asn258
  • Modification sites at PhosphoSitePlus

Other Protein References for COLEC10 Gene

No data available for DME Specific Peptides for COLEC10 Gene

Domains & Families for COLEC10 Gene

Gene Families for COLEC10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for COLEC10 Gene

Suggested Antigen Peptide Sequences for COLEC10 Gene

GenScript: Design optimal peptide antigens:
  • Collectin-34 (COL10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6Z7

UniProtKB/Swiss-Prot:

COL10_HUMAN :
  • Belongs to the COLEC10/COLEC11 family.
Family:
  • Belongs to the COLEC10/COLEC11 family.
genes like me logo Genes that share domains with COLEC10: view

Function for COLEC10 Gene

Molecular function for COLEC10 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for COLEC10 Gene

Gene Ontology (GO) - Molecular Function for COLEC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005537 mannose binding TAS,IEA --
GO:0030246 carbohydrate binding IEA --
GO:0042056 chemoattractant activity IDA 28301481
genes like me logo Genes that share ontologies with COLEC10: view
genes like me logo Genes that share phenotypes with COLEC10: view

Human Phenotype Ontology for COLEC10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for COLEC10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COLEC10

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COLEC10 Gene

Localization for COLEC10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COLEC10 Gene

Secreted. Golgi apparatus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COLEC10 gene
Compartment Confidence
extracellular 5
golgi apparatus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COLEC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA,IDA 28301481
GO:0005737 cytoplasm IEA,IDA 10224141
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with COLEC10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COLEC10 Gene

Pathways & Interactions for COLEC10 Gene

genes like me logo Genes that share pathways with COLEC10: view

Pathways by source for COLEC10 Gene

Gene Ontology (GO) - Biological Process for COLEC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0006956 complement activation TAS --
GO:0050918 positive chemotaxis IEA --
GO:1904888 cranial skeletal system development IMP 28301481
genes like me logo Genes that share ontologies with COLEC10: view

No data available for SIGNOR curated interactions for COLEC10 Gene

Drugs & Compounds for COLEC10 Gene

No Compound Related Data Available

Transcripts for COLEC10 Gene

mRNA/cDNA for COLEC10 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COLEC10

Alternative Splicing Database (ASD) splice patterns (SP) for COLEC10 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2:

Relevant External Links for COLEC10 Gene

GeneLoc Exon Structure for
COLEC10

Expression for COLEC10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COLEC10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COLEC10 Gene

This gene is overexpressed in Liver (x42.3).

Protein differential expression in normal tissues from HIPED for COLEC10 Gene

This gene is overexpressed in Serum (53.2) and Plasma (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COLEC10 Gene



Protein tissue co-expression partners for COLEC10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COLEC10

SOURCE GeneReport for Unigene cluster for COLEC10 Gene:

Hs.176615

mRNA Expression by UniProt/SwissProt for COLEC10 Gene:

Q9Y6Z7-COL10_HUMAN
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.

Evidence on tissue expression from TISSUES for COLEC10 Gene

  • Liver(2.6)
  • Bone marrow(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with COLEC10: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for COLEC10 Gene

Orthologs for COLEC10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COLEC10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COLEC10 29 30
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COLEC10 29 30
  • 91.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COLEC10 29 30
  • 90.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Colec10 29
  • 86.59 (n)
Mouse
(Mus musculus)
Mammalia Colec10 29 16 30
  • 86.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COLEC10 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COLEC10 29 30
  • 73.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COLEC10 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia colec10 29
  • 68.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii COLEC10 30
  • 42 (a)
OneToOne
Species where no ortholog for COLEC10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for COLEC10 Gene

ENSEMBL:
Gene Tree for COLEC10 (if available)
TreeFam:
Gene Tree for COLEC10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COLEC10: view image
Alliance of Genome Resources:
Additional Orthologs for COLEC10

Paralogs for COLEC10 Gene

Paralogs for COLEC10 Gene

(1) SIMAP similar genes for COLEC10 Gene using alignment to 1 proteins:

  • COL10_HUMAN
genes like me logo Genes that share paralogs with COLEC10: view

Variants for COLEC10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COLEC10 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
992663 Pathogenic: 3MC syndrome 3 119,067,400(+) CCA/C
NM_006438.5(COLEC10):c.128_129del (p.Thr43fs)
FRAMESHIFT_VARIANT,INTRON
rs1060505022 Pathogenic: 3MC syndrome 3 119,091,153(+) TA/T
NM_006438.5(COLEC10):c.228del (p.Gly77fs)
FRAMESHIFT
rs115273924 Likely Benign: not provided 119,105,892(+) C/T
NM_006438.5(COLEC10):c.535C>T (p.Arg179Trp)
MISSENSE
rs116835812 Benign: not provided 119,089,747(+) G/A
NM_006438.5(COLEC10):c.216G>A (p.Pro72=)
SYNONYMOUS
rs149010496 Pathogenic: 3MC syndrome 3 119,067,306(+) C/T
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)
NONSENSE,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COLEC10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COLEC10 Gene

Variant ID Type Subtype PubMed ID
dgv12292n54 CNV loss 21841781
dgv12293n54 CNV loss 21841781
esv22200 CNV loss 19812545
esv2668821 CNV deletion 23128226
esv2674983 CNV deletion 23128226
esv2759639 CNV gain 17122850
esv3544102 CNV deletion 23714750
esv3618586 CNV loss 21293372
esv3618587 CNV loss 21293372
esv3891471 CNV gain 25118596
esv3891472 CNV loss 25118596
nsv612057 CNV loss 21841781

Variation tolerance for COLEC10 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COLEC10 Gene

Human Gene Mutation Database (HGMD)
COLEC10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COLEC10
Leiden Open Variation Database (LOVD)
COLEC10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLEC10 Gene

Disorders for COLEC10 Gene

MalaCards: The human disease database

(7) MalaCards diseases for COLEC10 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
3mc syndrome 3
  • 3mc3
3mc syndrome
  • craniofacial-ulnar-renal syndrome
blepharophimosis
coffin-siris syndrome 2
  • css2
progressive relapsing multiple sclerosis
  • prms
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COL10_HUMAN
  • 3MC syndrome 3 (3MC3) [MIM:248340]: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269 PubMed:28301481}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COLEC10

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COLEC10: view

No data available for Genatlas for COLEC10 Gene

Publications for COLEC10 Gene

  1. Molecular cloning of a novel human collectin from liver (CL-L1). (PMID: 10224141) Ohtani K … Wakamiya N (The Journal of biological chemistry 1999) 2 3 4 22
  2. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. (PMID: 28301481) Munye MM … Hernandez-Hernandez V (PLoS genetics 2017) 3 4 72
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. Molecular cloning of mouse collectin liver 1. (PMID: 12450124) Kawai T … Wakamiya N (Bioscience, biotechnology, and biochemistry 2002) 3 22
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3

Products for COLEC10 Gene

Sources for COLEC10 Gene