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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
  • IgSF12 4
  • 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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for CD300A Gene

Promoters and enhancers for CD300A 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
GH17J074461 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.8 -0.6 -597 9.3 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 YBX1 IRF4 ZNF766 ZNF207 ZNF143 CD300A NUP85 NAT9 NT5C GGA3 MGC16275 GPR142 CD300LB ARMC7 BTBD17
GH17J074526 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.3 +63.9 63935 7.4 HDGF HDAC1 PKNOX1 RB1 BATF IRF4 RAD21 YY1 ZNF143 ZNF207 CD300LB CD300E CD300LD CD300A CD300C CD300LF GPR142 GPRC5C TMEM104 TTYH2
GH17J074511 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15 +47.2 47238 3.3 YBX1 FEZF1 ZNF213 ZNF416 ZNF548 SP3 ZFP41 MEF2D ZNF610 GLIS1 NUP85 NAT9 NT5C GGA3 RN7SL573P CD300E SLC16A5 MIF4GD CDR2L HID1-AS1
GH17J075260 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 +795.4 795433 3 HDGF PKNOX1 SMAD1 ARNT ZFP64 SIN3A DMAP1 ZNF2 YY1 SLC30A9 GGA3 MRPS7 NUP85 NT5C UNK SAP30BP NAT9 CDR2L ENSG00000266980 TRIM65
GH17J075204 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 +739.3 739319 2.9 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 MEF2D SSRP1 ZNF610 NUP85 GGA3 UNK NT5C ENSG00000266980 SAP30BP ENSG00000267342 H3F3B SRP68 LOC101928343
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD300A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD300A gene promoter:
  • AML1a
  • Bach1
  • LUN-1
  • Max
  • c-Myc
  • Nkx5-1
  • E47
  • Tal-1
  • MyoD

Genomic Locations for CD300A Gene

Genomic Locations for CD300A Gene
chr17:74,466,366-74,484,798
(GRCh38/hg38)
Size:
18,433 bases
Orientation:
Plus strand
chr17:72,462,522-72,480,933
(GRCh37/hg19)
Size:
18,412 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

No data available for DME Specific Peptides for CD300A Gene

Domains & Families for CD300A Gene

Gene Families for CD300A Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD300A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 IEA,IDA 10540326
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 20458337
GO:0070821 tertiary granule membrane TAS --
genes like me logo Genes that share ontologies with CD300A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD300A Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD300A

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)
genes like me logo Genes that share expression patterns with CD300A: view

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 33
  • 98.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CD300A 33
  • 69.63 (n)
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia CD300A 33
  • 66.43 (n)
-- 34
  • 47 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cd300a 33
  • 65.2 (n)
mouse
(Mus musculus)
Mammalia Cd300a 16 34 33
  • 63.67 (n)
Cd300c 34
  • 37 (a)
ManyToMany
AF251705 34
  • 34 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 44 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 30 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 24 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 36 (a)
ManyToMany
-- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CD300A: view image

Paralogs for CD300A Gene

Paralogs for CD300A Gene

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

  • CLM8_HUMAN
  • J3QKQ4_HUMAN

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 Variation AA Info Type
rs1000002779 -- 74,478,691(+) C/T intron_variant
rs1000221896 -- 74,464,540(+) G/T upstream_transcript_variant
rs1000283136 -- 74,469,808(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000493331 -- 74,475,564(+) C/G intron_variant
rs1000615140 -- 74,465,292(+) G/A upstream_transcript_variant

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)

Additional Variant Information 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

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuk1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CD300A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 4 22 58
  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 GJ … Hart DN (Tissue antigens 2000) 2 3 4 58
  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 (European journal of immunology 1999) 3 4 22 58
  4. The CMRF-35 mAb recognizes a second leukocyte membrane molecule with a domain similar to the poly Ig receptor. (PMID: 9701027) Green BJ … Hart DN (International immunology 1998) 2 3 4 58
  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 EJ … Lee WH (Immunology 2012) 3 4 58

Products for CD300A Gene

Sources for CD300A Gene

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