Aliases for COLEC12 Gene
Aliases for COLEC12 Gene
External Ids for COLEC12 Gene
- HGNC: 16016
- Entrez Gene: 81035
- Ensembl: ENSG00000158270
- OMIM: 607621
- UniProtKB: Q5KU26
Previous GeneCards Identifiers for COLEC12 Gene
- GC18M000603
- GC18M000306
Summaries for COLEC12 Gene
-
This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]
GeneCards Summary for COLEC12 Gene
COLEC12 (Collectin Subfamily Member 12) is a Protein Coding gene. Diseases associated with COLEC12 include Leukoencephalopathy With Vanishing White Matter. Among its related pathways are Vesicle-mediated transport and Binding and Uptake of Ligands by Scavenger Receptors. GO annotations related to this gene include scavenger receptor activity and signaling pattern recognition receptor activity. An important paralog of this gene is SCARA3.
UniProtKB/Swiss-Prot for COLEC12 Gene
-
Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid beta in Alzheimer disease.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLEC12 Gene
Genomics for COLEC12 Gene
Regulatory Elements for COLEC12 Gene
Enhancers for COLEC12 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 |
|---|---|---|---|---|---|---|---|---|
| GH18G000392 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 11.3 | +105.8 | 105821 | 4.8 | PKNOX1 ARNT SIN3A FEZF1 ZNF2 GLIS2 GATA2 FOS SP3 ZNF488 | COLEC12 GC18P000404 ENSG00000264514 |
| GH18G000331 | 1.1 | FANTOM5 Ensembl ENCODE | 15.5 | +168.3 | 168275 | 2.8 | CTCF GATA2 IKZF1 RAD21 ZKSCAN1 | COLEC12 CLUL1 ENSG00000264514 GC18P000404 |
| GH18G000360 | 1.5 | Ensembl ENCODE dbSUPER | 11.1 | +137.6 | 137641 | 4.8 | FOXA2 MLX SIN3A ARID4B FEZF1 ZNF2 ZNF48 KLF7 REST ZNF488 | COLEC12 CETN1 GC18P000404 ENSG00000264514 |
| GH18G000474 | 1.3 | Ensembl ENCODE dbSUPER | 12.4 | +25.2 | 25168 | 2.4 | CTCF ELF3 SAP130 ZNF792 JUN TEAD4 ZNF7 RARA TEAD3 ETS1 | COLEC12 THOC1 CLUL1 CETN1 USP14 GC18P000435 |
| GH18G000374 | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 11.2 | +123.2 | 123234 | 6.2 | ZNF274 SCRT2 MAX | COLEC12 CETN1 GC18P000404 ENSG00000264514 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COLEC12 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the COLEC12 gene promoter:
Regulatory Element Products
Genomic Location for COLEC12 Gene
- Chromosome:
- 18
- Start:
- 316,740 bp from pter
- End:
- 500,729 bp from pter
- Size:
- 183,990 bases
- Orientation:
- Minus strand
Genomic View for COLEC12 Gene
Genes around COLEC12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18p11.32 by Ensembl
- 18p11.32 by Entrez Gene
- 18p11.32 by HGNC
COLEC12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COLEC12 Gene
Proteins for COLEC12 Gene
-
Protein details for COLEC12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5KU26-COL12_HUMAN
- Recommended name:
- Collectin-12
- Protein Accession:
- Q5KU26
- Q6P9F2
- Q8TCR2
- Q8WZA4
- Q9BY85
- Q9BYH7
Protein attributes for COLEC12 Gene
- Size:
- 742 amino acids
- Molecular mass:
- 81515 Da
- Quaternary structure:
-
- The extracellular domain forms a stable trimer. The extracellular domain interacts with fibrillar beta amyloid peptide.
- SequenceCaution:
-
- Sequence=BAB39148.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Protein Expression for COLEC12 Gene
Post-translational modifications for COLEC12 Gene
Other Protein References for COLEC12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for COLEC12 (CL-P1/COLEC12)
- Novus Biologicals Antibodies for COLEC12
- Invitrogen Antibodies for COLEC12
- antibodies-online Antibodies for COLEC12: See all 46
- GeneTex Ighg2b antibody for COLEC12
- GeneTex COLEC12 antibody for COLEC12
Protein Products
- R&D Systems Proteins and Enzymes for COLEC12 (CL-P1/COLEC12)
-
OriGene Purified Proteins for COLEC12
- Search Origene for MassSpec and Protein Over-expression Lysates for COLEC12
- Origene Custom Protein Services for COLEC12
- Sino Biological Recombinant Proteins for COLEC12
- Sino Biological Cell Lysates for COLEC12
- antibodies-online Proteins for COLEC12: See all 10
- Search antibodies-online for peptides
- Search GeneTex for Proteins for COLEC12
Assay Products
- antibodies-online Kits for COLEC12: See all 3
No data available for DME Specific Peptides for COLEC12 Gene
Domains & Families for COLEC12 Gene
Gene Families for COLEC12 Gene
Protein Domains for COLEC12 Gene
Suggested Antigen Peptide Sequences for COLEC12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for COLEC12 Gene
Function for COLEC12 Gene
Molecular function for COLEC12 Gene
- UniProtKB/Swiss-Prot Function:
- Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid beta in Alzheimer disease.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005044 | scavenger receptor activity | TAS | 11162630 |
| GO:0005534 | galactose binding | NAS | 11564734 |
| GO:0008329 | signaling pattern recognition receptor activity | IDA | 11564734 |
| GO:0030169 | low-density lipoprotein particle binding | IDA | 11564734 |
| GO:0030246 | carbohydrate binding | IEA | -- |
Phenotypes for COLEC12 Gene
- GenomeRNAi human phenotypes for COLEC12:
Animal Model Products
-
Taconic Biosciences Mouse Models for COLEC12
- Cyagen custom Knockout/knockin (KOKI) mouse models for COLEC12
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COLEC12 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COLEC12 gene
- Search ViGene Biosciences for COLEC12
CRISPR Products
-
OriGene CRISPR knockouts for COLEC12
-
Santa Cruz Biotechnology (SCBT) CRISPR for COLEC12
- GenScript: Design CRISPR guide RNA sequences for COLEC12
miRNA for COLEC12 Gene
- miRTarBase miRNAs that target COLEC12
-
- hsa-mir-9-5p (MIRT021483)
- hsa-mir-7-5p (MIRT025879)
- hsa-mir-26b-5p (MIRT029943)
- hsa-mir-1303 (MIRT548770)
- hsa-mir-877-5p (MIRT548771)
- hsa-mir-6866-5p (MIRT548772)
- hsa-mir-4650-3p (MIRT548773)
- hsa-mir-4999-3p (MIRT548774)
- hsa-mir-3927-3p (MIRT548775)
- hsa-mir-6831-5p (MIRT548776)
- hsa-mir-4517 (MIRT548777)
- hsa-let-7g-5p (MIRT548778)
- hsa-let-7e-5p (MIRT548779)
- hsa-let-7d-5p (MIRT548780)
- hsa-let-7f-5p (MIRT548781)
- hsa-let-7c-5p (MIRT548782)
- hsa-let-7b-5p (MIRT548783)
- hsa-let-7i-5p (MIRT548784)
- hsa-let-7a-5p (MIRT548785)
- hsa-mir-4458 (MIRT548786)
- hsa-mir-4500 (MIRT548787)
- hsa-mir-98-5p (MIRT548788)
- hsa-mir-335-3p (MIRT615064)
- hsa-mir-1305 (MIRT615065)
- hsa-mir-4276 (MIRT615066)
- hsa-mir-3140-3p (MIRT615067)
- hsa-mir-6770-5p (MIRT615068)
- hsa-mir-1253 (MIRT615069)
- hsa-mir-4502 (MIRT615070)
- hsa-mir-152-3p (MIRT615071)
- hsa-mir-148b-3p (MIRT615072)
- hsa-mir-148a-3p (MIRT615073)
- hsa-mir-302c-3p (MIRT615074)
- hsa-mir-520f-3p (MIRT615075)
- hsa-mir-30e-3p (MIRT640134)
- hsa-mir-30d-3p (MIRT640135)
- hsa-mir-30a-3p (MIRT640136)
- hsa-mir-29b-2-5p (MIRT640137)
miRNA Products
- Search ViGene Biosciences for COLEC12
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COLEC12
- Browse OriGene Inhibitory RNA Products For COLEC12
-
ViGene Biosciences ready-to-package AAV shRNAs for COLEC12 gene
Clone Products
-
OriGene ORF clones in human for COLEC12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for COLEC12
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for COLEC12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COLEC12
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for COLEC12
-
ViGene Biosciences adenoviral particle packaged cDNA for COLEC12 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COLEC12 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COLEC12 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COLEC12 Gene
Localization for COLEC12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COLEC12 Gene
- Membrane; Single-pass type II membrane protein. Note=Forms clusters on the cell surface.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | TAS | 11162630 |
| GO:0030666 | endocytic vesicle membrane | TAS | -- |
Pathways & Interactions for COLEC12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Binding and Uptake of Ligands by Scavenger Receptors | ||
| 2 | Phagosome | ||
| 3 | Vesicle-mediated transport | ||
Pathways by source for COLEC12 Gene
3 Reactome pathways for COLEC12 Gene
1 KEGG pathway for COLEC12 Gene
Interacting Proteins for COLEC12 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006898 | receptor-mediated endocytosis | TAS | -- |
| GO:0006910 | phagocytosis, recognition | IDA | 11564734 |
| GO:0006952 | defense response | TAS | 11162630 |
| GO:0006955 | immune response | IEA | -- |
| GO:0009756 | carbohydrate mediated signaling | NAS | 11564734 |
No data available for SIGNOR curated interactions for COLEC12 Gene
Drugs & Compounds for COLEC12 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| D-Galactose |
|
59-23-4 |
|
|||
| Lewis X trisaccharide |
|
71208-06-5 |
|
Transcripts for COLEC12 Gene
mRNA/cDNA for COLEC12 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (106) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COLEC12 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COLEC12
-
Santa Cruz Biotechnology (SCBT) CRISPR for COLEC12
- GenScript: Design CRISPR guide RNA sequences for COLEC12
miRNA Products
- Search ViGene Biosciences for COLEC12
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COLEC12
- Browse OriGene Inhibitory RNA Products For COLEC12
-
ViGene Biosciences ready-to-package AAV shRNAs for COLEC12 gene
Clone Products
-
OriGene ORF clones in human for COLEC12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for COLEC12
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for COLEC12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COLEC12
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Expression for COLEC12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- NULL (Uncategorized)
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Crest (Gastrulation Derivatives)
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
-
Kidney (Urinary System)
- Podocytes Podocyte Layer
-
Epithelial Cells
- Podocytes Podocyte Layer
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Lung (Respiratory System)
- Limb (Muscoskeletal System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
- Endoderm (Gastrulation Derivatives)
- Primitive Streak (Early Embryonic Tissues)
-
Placenta (Extraembryonic Tissues)
-
Dermis (Integumentary System)
This gene is overexpressed in Placenta (16.6) and Cerebrospinal fluid (15.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COLEC12 Gene
NURSA nuclear receptor signaling pathways regulating expression of COLEC12 Gene:
COLEC12SOURCE GeneReport for Unigene cluster for COLEC12 Gene:
Hs.464422mRNA Expression by UniProt/SwissProt for COLEC12 Gene:
Q5KU26-COL12_HUMAN
Tissue specificity:
Expressed in perivascular macrophages. Expressed in plaques-surrounding reactive astrocytes and in perivascular astrocytes associated with cerebral amyloid angiopathy (CAA) in the temporal cortex of Alzheimer patient (at protein level). Strongly expressed in placenta. Moderately expressed in heart, skeletal muscle, small intestine and lung. Weakly expressed in brain, colon, thymus and kidney. Expressed in nurse-like cells. Expressed in reactive astrocytes and vascular/perivascular cells in the brain of Alzheimer patient.
Evidence on tissue expression from TISSUES for COLEC12 Gene
- Lung(4.3)
- Nervous system(4.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for COLEC12
-
OriGene qPCR primer pairs for COLEC12
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COLEC12 Gene
Orthologs for COLEC12 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COLEC12 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | COLEC12 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COLEC12 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COLEC12 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Colec12 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Colec12 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | COLEC12 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COLEC12 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COLEC12 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | colec12 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19955 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | colec12 34 35 |
|
||
| idibd2826 34 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | col-118 35 |
|
ManyToMany | |
| col-187 35 |
|
ManyToMany | |||
| col-148 35 |
|
ManyToMany | |||
| col-89 35 |
|
ManyToMany | |||
| col-149 35 |
|
ManyToMany | |||
| col-150 35 |
|
ManyToMany | |||
| col-176 35 |
|
ManyToMany | |||
| col-10 35 |
|
ManyToMany | |||
| col-126 35 |
|
ManyToMany | |||
| col-127 35 |
|
ManyToMany | |||
| col-144 35 |
|
ManyToMany | |||
| col-145 35 |
|
ManyToMany | |||
| col-61 35 |
|
ManyToMany | |||
| col-177 35 |
|
ManyToMany |
- Species where no ortholog for COLEC12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
Paralogs for COLEC12 Gene
Variants for COLEC12 Gene
| SNP ID | Clin | Chr 18 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000014768 | -- | 454,009(+) | CACAA(C/T)CTCCT | intron-variant | |
| rs1000018784 | -- | 365,972(+) | CTCGG(A/G)TTTTC | intron-variant | |
| rs1000028344 | -- | 459,996(+) | GTGAT(G/T)ACTGA | intron-variant | |
| rs1000085093 | -- | 413,039(+) | CAATT(A/G)TACGC | intron-variant | |
| rs1000096828 | -- | 399,330(+) | GGCCA(-/G)GAAAG | intron-variant |
Residual Variation Intolerance Score:
75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.03;
92.12% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for COLEC12 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- COLEC12
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLEC12 Gene
Disorders for COLEC12 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukoencephalopathy with vanishing white matter |
|
|
Search COLEC12 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for COLEC12
No data available for UniProtKB/Swiss-Prot and Genatlas for COLEC12 Gene
Publications for COLEC12 Gene
- Molecular cloning and functional characterization of a human scavenger receptor with C-type lectin (SRCL), a novel member of a scavenger receptor family. (PMID: 11162630) Nakamura K. … Nakamura T. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 22 64
- Selective binding of the scavenger receptor C-type lectin to Lewis X trisaccharide and related glycan ligands. (PMID: 15845541) Coombs P.J. … Taylor M.E. (J. Biol. Chem. 2005) 3 4 22 64
- Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene. (PMID: 12601552) Ohmori H. … Hata A. (J. Hum. Genet. 2003) 3 4 22 64
- The membrane-type collectin CL-P1 is a scavenger receptor on vascular endothelial cells. (PMID: 11564734) Ohtani K. … Wakamiya N. (J. Biol. Chem. 2001) 3 4 22 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
Products for COLEC12 Gene
- R&D Systems Antibodies for COLEC12 (CL-P1/COLEC12)
- R&D Systems Proteins and Enzymes for COLEC12 (CL-P1/COLEC12)
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for COLEC12
- Search Origene for MassSpec and Protein Over-expression Lysates for COLEC12
- Origene Custom Protein Services for COLEC12
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COLEC12
- Browse OriGene Inhibitory RNA Products For COLEC12
- OriGene qPCR primer pairs and template standards for COLEC12
- OriGene qPCR primer pairs for COLEC12
- OriGene CRISPR knockouts for COLEC12
- OriGene ORF clones in human for COLEC12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COLEC12
- GenScript: Next-day shipping cDNA ORF clone for COLEC12 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for COLEC12
- GenScript Custom Assay Services for COLEC12
- GenScript Custom overexpressing Cell Line Services for COLEC12
- GenScript: Design CRISPR guide RNA sequences for COLEC12
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for COLEC12
- Sino Biological Human cDNA Clone for COLEC12
- Sino Biological Recombinant Proteins for COLEC12
- Sino Biological Cell Lysates for COLEC12
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for COLEC12
- Novus Biologicals proteins and lysates for COLEC12
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Taconic Biosciences Mouse Models for COLEC12
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for COLEC12
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online Antibodies for COLEC12: See all 46
- antibodies-online Kits for COLEC12: See all 3
- antibodies-online Proteins for COLEC12: See all 10
- Search antibodies-online for peptides
- GeneTex Ighg2b antibody for COLEC12
- GeneTex COLEC12 antibody for COLEC12
- Search GeneTex for Proteins for COLEC12
- ViGene Biosciences adenoviral particle packaged cDNA for COLEC12 gene
- ViGene Biosciences lentiviral particle packaged cDNA for COLEC12 gene
- ViGene Biosciences ready-to-package AAV shRNAs for COLEC12 gene
- Search ViGene Biosciences for COLEC12
- Horizon Cell Lines for COLEC12
- Cyagen custom Knockout/knockin (KOKI) mouse models for COLEC12
- VectorBuilder custom plasmid, inducible vectors for COLEC12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COLEC12
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for COLEC12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer