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Aliases for CLEC12A Gene

Aliases for CLEC12A Gene

  • C-Type Lectin Domain Family 12 Member A 2 3 5
  • Myeloid Inhibitory C-Type Lectin-Like Receptor 2 3 4
  • Dendritic Cell-Associated Lectin 2 2 3 4
  • DCAL-2 3 4
  • CLL-1 3 4
  • CLL1 3 4
  • MICL 3 4
  • C-Type Lectin Domain Family 12, Member A 2
  • C-Type Lectin-Like Molecule-1 3
  • C-Type Lectin-Like Molecule 1 4
  • C-Type Lectin Protein CLL-1 3
  • CD371 3
  • DCAL2 4

External Ids for CLEC12A Gene

Previous GeneCards Identifiers for CLEC12A Gene

  • GC12P010016
  • GC12P010124
  • GC12P010103

Summaries for CLEC12A Gene

Entrez Gene Summary for CLEC12A Gene

  • This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]

GeneCards Summary for CLEC12A Gene

CLEC12A (C-Type Lectin Domain Family 12 Member A) is a Protein Coding gene. Among its related pathways are Toll-Like receptor Signaling Pathways and Innate Immune System. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is CLEC12B.

UniProtKB/Swiss-Prot for CLEC12A Gene

  • Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases.

Gene Wiki entry for CLEC12A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLEC12A Gene

Genomics for CLEC12A Gene

Regulatory Elements for CLEC12A Gene

Enhancers for CLEC12A 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
GH12G009970 1.4 FANTOM5 Ensembl ENCODE dbSUPER 99.1 +21.2 21185 4.2 HNF1A EZH2 CLEC12A OLR1 CLEC12B CLEC7A CLEC1B GABARAPL1 CLEC2B CLEC12A-AS1
GH12G009960 1 FANTOM5 Ensembl dbSUPER 86.3 +9.4 9374 0.4 GATA3 FOS CLEC12A OLR1 CLEC7A GABARAPL1 CLEC2B CD69 CLEC12A-AS1 CLEC12B
GH12G009964 0.5 FANTOM5 Ensembl 97.5 +13.7 13744 0.5 CLEC12A CLEC7A CLEC2B OLR1 CLEC12A-AS1 CLEC12B
GH12G009942 1.5 FANTOM5 Ensembl ENCODE dbSUPER 29.3 -7.6 -7617 2.2 MAZ RNF2 SP2 REST ZSCAN21 HIC1 ZNF366 GLIS1 PATZ1 ZNF629 OLR1 LINC02470 CLEC12A CLEC7A CLEC1B GABARAPL1 CD69
GH12G010016 1.2 Ensembl ENCODE dbSUPER 31.4 +66.4 66416 2.5 JUN MAFG ATF2 EP300 RFX5 ZNF316 JUND GATA2 PBX2 NFE2L1 CLEC12A CLEC12A-AS1 CLEC7A KLRF1 LINC02470 CLEC1B GC12P010023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLEC12A on UCSC Golden Path with GeneCards custom track

Genomic Location for CLEC12A Gene

Chromosome:
12
Start:
9,951,316 bp from pter
End:
9,999,354 bp from pter
Size:
48,039 bases
Orientation:
Plus strand

Genomic View for CLEC12A Gene

Genes around CLEC12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLEC12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLEC12A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLEC12A Gene

Proteins for CLEC12A Gene

  • Protein details for CLEC12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5QGZ9-CL12A_HUMAN
    Recommended name:
    C-type lectin domain family 12 member A
    Protein Accession:
    Q5QGZ9
    Secondary Accessions:
    • B2RA16
    • Q6P4H1
    • Q6RH77
    • Q6RH78
    • Q8TDQ6

    Protein attributes for CLEC12A Gene

    Size:
    265 amino acids
    Molecular mass:
    30762 Da
    Quaternary structure:
    • Interacts with PTPN6 and PTPN11.

    Alternative splice isoforms for CLEC12A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLEC12A Gene

Post-translational modifications for CLEC12A Gene

  • Highly N-glycosylated. Glycosylation varies between cell types.
  • Glycosylation at posLast=9090, posLast=9898, posLast=108108, Asn115, posLast=175175, and posLast=220220
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLEC12A Gene

Domains & Families for CLEC12A Gene

Gene Families for CLEC12A Gene

Protein Domains for CLEC12A Gene

Suggested Antigen Peptide Sequences for CLEC12A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5QGZ9

UniProtKB/Swiss-Prot:

CL12A_HUMAN :
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
Domain:
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases.
genes like me logo Genes that share domains with CLEC12A: view

Function for CLEC12A Gene

Molecular function for CLEC12A Gene

UniProtKB/Swiss-Prot Function:
Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases.
UniProtKB/Swiss-Prot Induction:
Down-regulated in activated leukocytes recruited to a site of inflammation.

Gene Ontology (GO) - Molecular Function for CLEC12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with CLEC12A: view
genes like me logo Genes that share phenotypes with CLEC12A: view

Animal Models for CLEC12A Gene

MGI Knock Outs for CLEC12A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLEC12A Gene

Localization for CLEC12A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLEC12A Gene

Cell membrane; Single-pass type II membrane protein. Note=Ligand binding leads to internalization.

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 CLEC12A gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CLEC12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
GO:0070821 tertiary granule membrane TAS --
genes like me logo Genes that share ontologies with CLEC12A: view

Pathways & Interactions for CLEC12A Gene

genes like me logo Genes that share pathways with CLEC12A: view

Pathways by source for CLEC12A Gene

Gene Ontology (GO) - Biological Process for CLEC12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with CLEC12A: view

No data available for SIGNOR curated interactions for CLEC12A Gene

Drugs & Compounds for CLEC12A Gene

(9) Drugs for CLEC12A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(14) Additional Compounds for CLEC12A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLEC12A: view

Transcripts for CLEC12A Gene

Unigene Clusters for CLEC12A Gene

C-type lectin domain family 12, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLEC12A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: - -
SP2: -
SP3: -
SP4:

Relevant External Links for CLEC12A Gene

GeneLoc Exon Structure for
CLEC12A
ECgene alternative splicing isoforms for
CLEC12A

Expression for CLEC12A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLEC12A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLEC12A Gene

This gene is overexpressed in Whole Blood (x36.9) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for CLEC12A Gene

This gene is overexpressed in Monocytes (32.6), Peripheral blood mononuclear cells (29.9), and Spleen (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLEC12A Gene



Protein tissue co-expression partners for CLEC12A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLEC12A Gene:

CLEC12A

SOURCE GeneReport for Unigene cluster for CLEC12A Gene:

Hs.190519

mRNA Expression by UniProt/SwissProt for CLEC12A Gene:

Q5QGZ9-CL12A_HUMAN
Tissue specificity: Detected in normal myeloid cells and in acute myeloid leukemia cells. Detected in neutrophils, eosinophils, monocytes and dendritic cells. Detected in spleen macrophage-rich red pulp and in lymph node (at protein level). Detected in peripheral blood leukocytes, dendritic cells, bone marrow, monocytes, mononuclear leukocytes and macrophages.

Evidence on tissue expression from TISSUES for CLEC12A Gene

  • Blood(4.4)
  • Bone marrow(4.4)
  • Lung(4.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with CLEC12A: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CLEC12A Gene

Orthologs for CLEC12A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLEC12A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLEC12A 34 35
  • 98.79 (n)
dog
(Canis familiaris)
Mammalia CLEC12A 34 35
  • 73.72 (n)
cow
(Bos Taurus)
Mammalia CLEC12A 34 35
  • 71.24 (n)
mouse
(Mus musculus)
Mammalia Clec12a 34 16 35
  • 67.18 (n)
rat
(Rattus norvegicus)
Mammalia Clec12a 34
  • 64.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 45 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 34 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 32 (a)
OneToMany
Species where no ortholog for CLEC12A 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CLEC12A Gene

ENSEMBL:
Gene Tree for CLEC12A (if available)
TreeFam:
Gene Tree for CLEC12A (if available)

Paralogs for CLEC12A Gene

Paralogs for CLEC12A Gene

(5) SIMAP similar genes for CLEC12A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CLEC12A: view

Variants for CLEC12A Gene

Sequence variations from dbSNP and Humsavar for CLEC12A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000069162 -- 9,950,981(+) GTAAA(A/C)CCCCA nc-transcript-variant, upstream-variant-2KB
rs1000112368 -- 9,990,957(+) TTTAG(C/T)AATAA intron-variant, utr-variant-3-prime
rs1000156853 -- 9,975,043(+) GATGT(A/G)CCTTT intron-variant
rs1000245632 -- 9,984,195(+) AATGA(C/T)ATCTG intron-variant, utr-variant-3-prime
rs1000271409 -- 9,958,153(+) TGCAA(A/G)TCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLEC12A Gene

Variant ID Type Subtype PubMed ID
dgv1374n100 CNV gain 25217958
nsv1038226 CNV gain 25217958
nsv1044587 CNV loss 25217958
nsv1051530 CNV gain 25217958
nsv523050 CNV loss 19592680
nsv525593 CNV loss 19592680

Variation tolerance for CLEC12A Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLEC12A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLEC12A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLEC12A Gene

Disorders for CLEC12A Gene

Relevant External Links for CLEC12A

Genetic Association Database (GAD)
CLEC12A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLEC12A

No disorders were found for CLEC12A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLEC12A Gene

Publications for CLEC12A Gene

  1. Human MICL (CLEC12A) is differentially glycosylated and is down- regulated following cellular activation. (PMID: 16838277) Marshall A.S.J. … Brown G.D. (Eur. J. Immunol. 2006) 3 4 22 64
  2. Identification and characterization of a novel human myeloid inhibitory C-type lectin-like receptor (MICL) that is predominantly expressed on granulocytes and monocytes. (PMID: 14739280) Marshall A.S.J. … Brown G.D. (J. Biol. Chem. 2004) 3 4 22 64
  3. C-type lectin-like molecule-1: a novel myeloid cell surface marker associated with acute myeloid leukemia. (PMID: 15548716) Bakker A.B.H. … Kruisbeek A.M. (Cancer Res. 2004) 3 4 22 64
  4. Characterisation of murine MICL (CLEC12A) and evidence for an endogenous ligand. (PMID: 18350551) Pyz E. … Brown G.D. (Eur. J. Immunol. 2008) 3 22 64
  5. The novel AML stem cell associated antigen CLL-1 aids in discrimination between normal and leukemic stem cells. (PMID: 17609428) van Rhenen A. … Jan Schuurhuis G. (Blood 2007) 3 22 64

Products for CLEC12A Gene

Sources for CLEC12A Gene

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