Free for academic non-profit institutions. Other users need a Commercial license

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-34 3 4
  • CL-34 3 4
  • CLL1 3 4
  • Collectin Liver 1 3
  • Collectin-10 3
  • CL-L1 4
  • 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. GO annotations related to this gene include mannose binding. An important paralog of this gene is COLEC11.

UniProtKB/Swiss-Prot 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).

Additional gene information for COLEC10 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLEC10 Gene

Genomics for COLEC10 Gene

Regulatory Elements for COLEC10 Gene

Enhancers for COLEC10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H118904 1.4 FANTOM5 Ensembl ENCODE 12.4 -46.7 -46691 2 TBP JUN MAX RAD21 RFX5 POLR2A SMC3 RCOR1 FOS DEK COLEC10 LOC105375723 TNFRSF11B
GH08H118908 0.9 FANTOM5 ENCODE 11.9 -40.2 -40219 6 PKNOX1 NFYA NR2F1 ATF2 FOXA1 GATA3 POLR2A ZNF24 ATF7 COLEC10 RNU6-12P LOC100286746 TNFRSF11B LOC105375723
GH08H118950 0.8 ENCODE 12.8 -0.5 -538 2 BACH1 SIN3A EBF1 ZIC2 ETS1 POLR2A EED ZNF207 PRDM10 RUNX3 COLEC10 RNU6-12P LOC100286746 TNFRSF11B LOC105375723
GH08H118948 0.8 FANTOM5 ENCODE 12.8 -3.6 -3576 1 CTCF IKZF1 ELF1 ZSCAN29 IKZF2 COLEC10 RNU6-12P LOC100286746 TNFRSF11B LOC105375723
GH08H118860 1 ENCODE dbSUPER 9.7 -90.3 -90271 2 NFIB CEBPG BMI1 ZBTB40 RELA MTA3 CTBP1 GATA3 ZNF207 FOS COLEC10 LOC105375723 TNFRSF11B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COLEC10 on UCSC Golden Path with GeneCards custom track

Promoters for COLEC10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000229348 -439 1600 BACH1 SIN3A EBF1 ZIC2 GATA3 POLR2A EED ZNF207 RUNX3 IKZF2

Genomic Location for COLEC10 Gene

Chromosome:
8
Start:
118,952,240 bp from pter
End:
119,108,455 bp from pter
Size:
156,216 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

ENSEMBL proteins:
REFSEQ proteins:

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):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for COLEC10 Gene

GenScript: Design optimal peptide antigens:

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:0004252 serine-type endopeptidase activity TAS --
GO:0005537 mannose binding IEA,TAS --
GO:0030246 carbohydrate binding IEA --
GO:0042056 chemoattractant activity IDA 28301481
genes like me logo Genes that share ontologies with COLEC10: view

Phenotypes for COLEC10 Gene

GenomeRNAi human phenotypes for COLEC10:
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 Model Products

  • Taconic Biosciences Mouse Models for COLEC10

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COLEC10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
mitochondrion 1
endoplasmic reticulum 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 IDA 28301481
GO:0005737 cytoplasm IDA,IEA 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:0006508 proteolysis IEA --
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

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COLEC10 Gene

Collectin sub-family member 10 (C-type lectin):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COLEC10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
COLEC10

Expression for COLEC10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for COLEC10 Gene



Protein tissue co-expression partners for COLEC10 Gene

NURSA nuclear receptor signaling pathways regulating expression of COLEC10 Gene:

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.
genes like me logo Genes that share expression patterns with COLEC10: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and 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 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia COLEC10 33 34
  • 91.46 (n)
cow
(Bos Taurus)
Mammalia COLEC10 33 34
  • 90.13 (n)
rat
(Rattus norvegicus)
Mammalia Colec10 33
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Colec10 33 16 34
  • 86.04 (n)
oppossum
(Monodelphis domestica)
Mammalia COLEC10 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COLEC10 33 34
  • 73.01 (n)
lizard
(Anolis carolinensis)
Reptilia COLEC10 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia colec10 33
  • 68.82 (n)
zebrafish
(Danio rerio)
Actinopterygii COLEC10 34
  • 42 (a)
OneToOne
Species where no ortholog for COLEC10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for COLEC10 Gene

Paralogs for COLEC10 Gene

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

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

Variants for COLEC10 Gene

Sequence variations from dbSNP and Humsavar for COLEC10 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs773764995 3MC syndrome 3 (3MC3) [MIM:248340] 119,105,885(+) CACTG(C/G)AGGAT reference, missense
rs11575929 Uncertain significance 118,952,105(-) ACCGC(C/T)CCACC upstream-variant-2KB, utr-variant-5-prime
rs368831724 Uncertain significance 118,952,078(+) GATCC(A/C)CCAGG upstream-variant-2KB, utr-variant-5-prime
rs373330021 Uncertain significance 118,951,801(+) AGCGC(A/G)CAGCA upstream-variant-2KB, reference, synonymous-codon
rs570347828 Uncertain significance 118,952,025(+) GGGGG(A/G)TGTGC upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for COLEC10 Gene

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

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

Disorders for COLEC10 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COLEC10 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
3mc syndrome 3
  • 3mc3
3mc syndrome
  • craniofacial-ulnar-renal syndrome
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for COLEC10

Genetic Association Database (GAD)
COLEC10
Human Genome Epidemiology (HuGE) Navigator
COLEC10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COLEC10
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 60
  2. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. (PMID: 28301481) Munye MM … Hernandez-Hernandez V (PLoS genetics 2017) 3 4 60
  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 60
  4. Molecular cloning of mouse collectin liver 1. (PMID: 12450124) Kawai T … Wakamiya N (Bioscience, biotechnology, and biochemistry 2002) 3 22 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for COLEC10 Gene

Sources for COLEC10 Gene

Content
Loading form....