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Aliases for CD300A Gene

Aliases for CD300A Gene

  • CD300a Molecule 2 3 5
  • CD300a Antigen 2 3 4
  • Immunoglobulin Superfamily Member 12 3 4
  • CD300 Antigen-Like Family Member A 3 4
  • Inhibitory Receptor Protein 60 3 4
  • NK Inhibitory Receptor 3 4
  • CMRF-35-H9 3 4
  • CMRF35-H9 3 4
  • IRC1/IRC2 3 4
  • CMRF35-H 3 4
  • CMRF35H 3 4
  • IGSF12 3 4
  • CLM-8 3 4
  • IRp60 3 4
  • CMRF35H Leukocyte Immunoglobulin-Like Receptor 3
  • Leukocyte Membrane Antigen 3
  • CMRF35-Like Molecule 8 3
  • CMRF-35H 3
  • CMRF35H9 3
  • IRC1 3
  • IRC2 3

External Ids for CD300A Gene

Previous GeneCards Identifiers for CD300A Gene

  • GC17P069975
  • GC17P072462
  • GC17P067871

Summaries for CD300A Gene

Entrez Gene Summary for CD300A Gene

  • This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for CD300A Gene

CD300A (CD300a Molecule) is a Protein Coding gene. Diseases associated with CD300A include Kabuki Syndrome 1. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Innate Immune System. GO annotations related to this gene include phosphatidylserine binding and signaling receptor activity. An important paralog of this gene is CD300C.

UniProtKB/Swiss-Prot for CD300A Gene

  • Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation (PubMed:10746781, PubMed:16339535, PubMed:9701027). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6 (PubMed:22043923).

Gene Wiki entry for CD300A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD300A Gene

Genomics for CD300A Gene

Regulatory Elements for CD300A Gene

Enhancers for CD300A 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
GH17G074526 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +63.9 63935 7.4 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B YY1 ZNF207 NFYC REST CD300LB CD300E CD300LD CD300A CD300C CD300LF GPR142 GPRC5C TMEM104 TTYH2
GH17G074511 2 FANTOM5 Ensembl ENCODE dbSUPER 15 +47.2 47238 3.3 HDGF PKNOX1 ARNT SIN3A YBX1 FEZF1 ZNF2 ZNF302 CBX5 ZNF416 NAT9 NT5C NUP85 RN7SL573P CD300E HID1-AS1 CD300A MGC16275 KCTD2 CD300C
GH17G074461 2 FANTOM5 Ensembl ENCODE dbSUPER 14.8 -0.6 -597 9.3 HDGF PKNOX1 FOXA2 WRNIP1 ZFP64 ARID4B SIN3A YBX1 ZNF766 ZNF143 CD300A MGC16275 GPR142 CD300LB BTBD17 NAT9 CD300C CD300E CD300LF CD300LD
GH17G074442 1.6 Ensembl ENCODE dbSUPER 12.5 -21.3 -21300 5.7 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 SP3 SP5 GPRC5C CD300A GPR142 CD300E CD300LD NT5C GC17M074409 GC17P074445
GH17G074435 1.4 Ensembl ENCODE dbSUPER 11.3 -30.2 -30155 2.2 FOXA2 MLX ARID4B FEZF1 YY1 ZNF121 SP5 PPARG MIER3 GLIS1 CD300A GPR142 CD300E MRPL58 GC17M074409 GPRC5C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD300A on UCSC Golden Path with GeneCards custom track

Promoters for CD300A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098209 634 801 HDGF CTCF TBP PKNOX1 MAX BMI1 GATA3 POLR2A EED ZNF207

Genomic Location for CD300A Gene

Chromosome:
17
Start:
74,466,366 bp from pter
End:
74,484,798 bp from pter
Size:
18,433 bases
Orientation:
Plus strand

Genomic View for CD300A Gene

Genes around CD300A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD300A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD300A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD300A Gene

Proteins for CD300A Gene

  • Protein details for CD300A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGN4-CLM8_HUMAN
    Recommended name:
    CMRF35-like molecule 8
    Protein Accession:
    Q9UGN4
    Secondary Accessions:
    • A8MW96
    • O95100
    • Q9HD97
    • Q9P0F3
    • Q9UBK4
    • Q9UMS9
    • Q9UMT0

    Protein attributes for CD300A Gene

    Size:
    299 amino acids
    Molecular mass:
    33201 Da
    Quaternary structure:
    • Upon tyrosine-phosphorylation, interacts with PTN6/SHP-1 and PTPN11/SHP-2 and INPP5D.
    SequenceCaution:
    • Sequence=AAF28906.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF28906.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CD300A Gene

    Alternative splice isoforms for CD300A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD300A Gene

Post-translational modifications for CD300A Gene

Antibody Products

  • R&D Systems Antibodies for CD300A (CD300a/LMIR1)

No data available for DME Specific Peptides for CD300A Gene

Domains & Families for CD300A Gene

Gene Families for CD300A Gene

Protein Domains for CD300A Gene

Suggested Antigen Peptide Sequences for CD300A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UGN4

UniProtKB/Swiss-Prot:

CLM8_HUMAN :
  • Belongs to the CD300 family.
Family:
  • Belongs to the CD300 family.
genes like me logo Genes that share domains with CD300A: view

Function for CD300A Gene

Molecular function for CD300A Gene

UniProtKB/Swiss-Prot Function:
Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation (PubMed:10746781, PubMed:16339535, PubMed:9701027). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6 (PubMed:22043923).

Gene Ontology (GO) - Molecular Function for CD300A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 22302738
GO:0005515 protein binding IPI 10540326
GO:0008429 phosphatidylethanolamine binding IDA 22302738
GO:0038023 signaling receptor activity IDA 16339535
genes like me logo Genes that share ontologies with CD300A: view
genes like me logo Genes that share phenotypes with CD300A: view

Animal Models for CD300A Gene

MGI Knock Outs for CD300A:

Animal Model Products

  • Taconic Biosciences Mouse Models for CD300A

CRISPR Products

miRNA for CD300A Gene

miRTarBase miRNAs that target CD300A

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD300A Gene

Localization for CD300A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD300A Gene

Cell membrane; Single-pass type I membrane protein.

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 CD300A gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CD300A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA,IEA 10540326
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 20458337
GO:0070821 tertiary granule membrane TAS --
genes like me logo Genes that share ontologies with CD300A: view

Pathways & Interactions for CD300A Gene

genes like me logo Genes that share pathways with CD300A: view

Gene Ontology (GO) - Biological Process for CD300A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction IEA --
GO:0030889 negative regulation of B cell proliferation IMP 21482706
GO:0032516 positive regulation of phosphoprotein phosphatase activity IDA 16339535
genes like me logo Genes that share ontologies with CD300A: view

No data available for SIGNOR curated interactions for CD300A Gene

Drugs & Compounds for CD300A Gene

(1) Drugs for CD300A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CD300A: view

Transcripts for CD300A Gene

Unigene Clusters for CD300A Gene

CD300a molecule:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD300A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: - -

Relevant External Links for CD300A Gene

GeneLoc Exon Structure for
CD300A
ECgene alternative splicing isoforms for
CD300A

Expression for CD300A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD300A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD300A Gene

This gene is overexpressed in Whole Blood (x28.7) and Spleen (x5.6).

Protein differential expression in normal tissues from HIPED for CD300A Gene

This gene is overexpressed in Urine (42.0) and Monocytes (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD300A Gene



Protein tissue co-expression partners for CD300A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD300A Gene:

CD300A

SOURCE GeneReport for Unigene cluster for CD300A Gene:

Hs.9688

mRNA Expression by UniProt/SwissProt for CD300A Gene:

Q9UGN4-CLM8_HUMAN
Tissue specificity: Expressed not only by natural killer (NK) cells but also by T-cell subsets, B-cells, dendritic cells, mast cells, granulocytes and monocytes.

Evidence on tissue expression from TISSUES for CD300A Gene

  • Blood(4.5)
  • Spleen(2)
genes like me logo Genes that share expression patterns with CD300A: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CD300A Gene

Orthologs for CD300A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD300A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD300A 34 35
  • 98.14 (n)
dog
(Canis familiaris)
Mammalia CD300A 34
  • 69.63 (n)
-- 35
  • 40 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia CD300A 34
  • 66.43 (n)
-- 35
  • 47 (a)
ManyToMany
-- 35
  • 36 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cd300a 34
  • 65.2 (n)
mouse
(Mus musculus)
Mammalia Cd300a 34 16 35
  • 63.67 (n)
Cd300c 35
  • 37 (a)
ManyToMany
AF251705 35
  • 34 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 44 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 30 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 24 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 36 (a)
ManyToMany
-- 35
  • 27 (a)
ManyToMany
Species where no ortholog for CD300A 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)
  • 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 CD300A Gene

ENSEMBL:
Gene Tree for CD300A (if available)
TreeFam:
Gene Tree for CD300A (if available)

Paralogs for CD300A Gene

Paralogs for CD300A Gene

(2) SIMAP similar genes for CD300A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CD300A Gene

genes like me logo Genes that share paralogs with CD300A: view

Variants for CD300A Gene

Sequence variations from dbSNP and Humsavar for CD300A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000002779 -- 74,478,691(+) AAAGC(C/T)TTCCA intron-variant
rs1000221896 -- 74,464,540(+) GATCC(G/T)CCTGC upstream-variant-2KB
rs1000283136 -- 74,469,808(+) CGACA(A/G)GAGCG intron-variant, upstream-variant-2KB
rs1000493331 -- 74,475,564(+) TCTGA(C/G)ATCTA intron-variant
rs1000615140 -- 74,465,292(+) TTTGT(A/G)TGAGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CD300A Gene

Variant ID Type Subtype PubMed ID
dgv12e196 CNV duplication 17116639
dgv3282n100 CNV gain 25217958
dgv372n27 CNV gain 19166990
dgv5768n54 CNV gain 21841781
dgv5774n54 CNV gain 21841781
esv2751770 CNV gain 17911159
esv2761978 CNV gain 21179565
esv33995 CNV loss 17666407
esv3573820 CNV gain 25503493
esv3641230 CNV gain 21293372
nsv470600 CNV loss 18288195
nsv517569 CNV gain+loss 19592680

Variation tolerance for CD300A Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD300A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD300A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD300A Gene

Disorders for CD300A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CD300A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CD300A

Genetic Association Database (GAD)
CD300A
Human Genome Epidemiology (HuGE) Navigator
CD300A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD300A
genes like me logo Genes that share disorders with CD300A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD300A Gene

Publications for CD300A Gene

  1. The inhibitory receptor IRp60 (CD300a) is expressed and functional on human mast cells. (PMID: 16339535) Bachelet I. … Levi-Schaffer F. (J. Immunol. 2005) 3 4 22 64
  2. The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17. (PMID: 10746781) Clark G.J. … Hart D.N.J. (Tissue Antigens 2000) 2 3 4 64
  3. Molecular and functional characterization of IRp60, a member of the immunoglobulin superfamily that functions as an inhibitory receptor in human NK cells. (PMID: 10540326) Cantoni C. … Moretta A. (Eur. J. Immunol. 1999) 3 4 22 64
  4. The CMRF-35 mAb recognizes a second leukocyte membrane molecule with a domain similar to the poly Ig receptor. (PMID: 9701027) Green B.J. … Hart D.N.J. (Int. Immunol. 1998) 2 3 4 64
  5. CD300a and CD300f differentially regulate the MyD88 and TRIF-mediated TLR signalling pathways through activation of SHP-1 and/or SHP-2 in human monocytic cell lines. (PMID: 22043923) Kim E.J. … Lee W.H. (Immunology 2012) 3 4 64

Products for CD300A Gene

Sources for CD300A Gene

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