CD300H Gene (Protein Coding)

CD300H Molecule (Gene/Pseudogene)

GC17M074557
GIFtS:
13
This gene belongs to the CD300 gene family, which in turn, belongs to the immunoglobulin (Ig) superfamily. This gene is located within a CD300 cluster on chromosome 17. The encoded protein may be involved in innate immunity as well as autoimmune response. A G>A mutation, represented by the single nucleotide polymorphism (SNP) rs905709, at the splice donor site of the 5' termina... See more...

Aliases for CD300H Gene

Aliases for CD300H Gene

  • CD300H Molecule (Gene/Pseudogene) 2 3 5
  • CD300 Antigen-Like Family Member H 3 4
  • Protein CD300H 3 4
  • CD300c Molecule-Like 3
  • CD300Hs 3

External Ids for CD300H Gene

Summaries for CD300H Gene

Entrez Gene Summary for CD300H Gene

  • This gene belongs to the CD300 gene family, which in turn, belongs to the immunoglobulin (Ig) superfamily. This gene is located within a CD300 cluster on chromosome 17. The encoded protein may be involved in innate immunity as well as autoimmune response. A G>A mutation, represented by the single nucleotide polymorphism (SNP) rs905709, at the splice donor site of the 5' terminal exon may be associated with lack of expression of this gene in homozygous (AA) individuals. The human reference assembly (GRCh38.p2) represents the 'A' allele at this SNP. [provided by RefSeq, Apr 2016]

GeneCards Summary for CD300H Gene

CD300H (CD300H Molecule (Gene/Pseudogene)) is a Protein Coding gene. An important paralog of this gene is CD300C.

UniProtKB/Swiss-Prot Summary for CD300H Gene

  • May play an important role in innate immunity by mediating a signal for the production of a neutrophil chemoattractant.

Additional gene information for CD300H Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD300H Gene

Genomics for CD300H Gene

GeneHancer (GH) Regulatory Elements for CD300H Gene

Promoters and enhancers for CD300H 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
GH17J074569 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 750.6 +0.9 933 0.8 CTCF RAD21 KLF14 TRIM22 ZNF143 ZFHX2 XRCC5 RB1 CD300H lnc-CD300LD-1 ENSG00000261222 CD300C CD300LB CD300LD CD300E GPR142 CD300A lnc-CD300C-2
GH17J074565 Promoter 0.3 Ensembl 750.6 +1.9 1933 0.4 CD300H lnc-CD300LD-1 ENSG00000261222 CD300LB CD300LD CD300E GPR142 lnc-CD300C-2
GH17J074568 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.6 -2.1 -2071 1.6 ZNF785 MYC MAX POLR2A ZNF473 MAFK BACH1 ZNF639 YBX1 ZBTB33 CD300E NAT9 CD300C CD300LB ENSG00000266765 LINC02092 ENSG00000265927 ENSG00000265935 CD300LD CASKIN2
GH17J074557 Enhancer 0.5 Ensembl dbSUPER 0.4 +8.9 8933 2.4 POU5F1 NANOG lnc-CD300C-2 CD300C ENSG00000236770 CD300LB CD300LD CD300E GPR142 ENSG00000261222 CD300H lnc-CD300LD-1
GH17J074579 Enhancer 0.4 Ensembl 0.4 -12.5 -12467 1.2 ZBTB40 NR2C2 GABPA RF00951-057 CD300H CD300LD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD300H on UCSC Golden Path with GeneCards custom track

Genomic Locations for CD300H Gene

Genomic Locations for CD300H Gene
chr17:74,557,246-74,567,534
(GRCh38/hg38)
Size:
10,289 bases
Orientation:
Minus strand

Genomic View for CD300H Gene

Genes around CD300H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD300H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD300H Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CD300H Gene

Proteins for CD300H Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CD300H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A0K2S4Q6-CD3CH_HUMAN
    Recommended name:
    Protein CD300H
    Protein Accession:
    A0A0K2S4Q6
    Secondary Accessions:
    • A0A0K2S5L2
    • A0A286YF48

    Protein attributes for CD300H Gene

    Size:
    201 amino acids
    Molecular mass:
    21806 Da
    Quaternary structure:
    • Interacts with TYROBP and HCST.

    Alternative splice isoforms for CD300H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD300H Gene

Post-translational modifications for CD300H Gene

Other Protein References for CD300H Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CD300H Gene

Domains & Families for CD300H Gene

Protein Domains for CD300H Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

A0A0K2S4Q6

UniProtKB/Swiss-Prot:

CD3CH_HUMAN :
  • Belongs to the CD300 family.
Family:
  • Belongs to the CD300 family.
genes like me logo Genes that share domains with CD300H: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for CD300H Gene

Function for CD300H Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CD300H Gene

UniProtKB/Swiss-Prot Function:
May play an important role in innate immunity by mediating a signal for the production of a neutrophil chemoattractant.

Gene Ontology (GO) - Molecular Function for CD300H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26221034
GO:0042803 NOT protein homodimerization activity IDA 26221034
genes like me logo Genes that share ontologies with CD300H: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CD300H Gene

Localization for CD300H Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD300H Gene

Isoform 1: Membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Gene Ontology (GO) - Cellular Components for CD300H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CD300H: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for CD300H Gene

Pathways & Interactions for CD300H Gene

PathCards logo

SuperPathways for CD300H Gene

No Data Available

Interacting Proteins for CD300H Gene

Gene Ontology (GO) - Biological Process for CD300H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001816 cytokine production IDA 26221034
GO:0030593 neutrophil chemotaxis IDA 26221034
genes like me logo Genes that share ontologies with CD300H: view

No data available for Pathways by source and SIGNOR curated interactions for CD300H Gene

Drugs & Compounds for CD300H Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CD300H Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CD300H Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CD300H Gene

No ASD Table

Relevant External Links for CD300H Gene

GeneLoc Exon Structure for
CD300H
ECgene alternative splicing isoforms for
CD300H

Expression for CD300H Gene

Products:

  1. Primer

mRNA Expression by UniProt/SwissProt for CD300H Gene:

A0A0K2S4Q6-CD3CH_HUMAN
Tissue specificity: Expressed on CD16+ monocytes and myeloid dendritic cells. By contrast, is not expressed on lymphocytes or granulocytes.

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD300H Gene

Orthologs for CD300H Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD300H Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia LOC100686047 32
  • 80.57 (n)
cow
(Bos Taurus)
 Mammalia LOC614141 32
  • 74.81 (n)
Species where no ortholog for CD300H 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 CD300H Gene

ENSEMBL:
Gene Tree for CD300H (if available)
TreeFam:
Gene Tree for CD300H (if available)

Paralogs for CD300H Gene

Paralogs for CD300H Gene

genes like me logo Genes that share paralogs with CD300H: view

Variants for CD300H Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CD300H Gene

CD3CH_HUMAN-A0A0K2S4Q6
Some individuals have a mutation (NM_001324073.1:c.61+1A>G) which abolishes the intron 1 donor splice site. These persons carrying the A/A genotype shows a loss of CD300H transcripts and protein. The AA genotype occurs at high frequencies in East Asian and Northern/Western European populations, but is rare in the Yoruba (West African) population.

Sequence variations from dbSNP and Humsavar for CD300H Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000143552 -- 74,559,438(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000405486 -- 74,559,035(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000789640 -- 74,564,425(-) G/A intron_variant
rs1001315162 -- 74,558,545(-) C/T genic_downstream_transcript_variant, intron_variant
rs1001397995 -- 74,563,073(-) G/A intron_variant

Additional Variant Information for CD300H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD300H

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for CD300H Gene

Disorders for CD300H Gene

Additional Disease Information for CD300H

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CD300H Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CD300H Gene

Publications for CD300H Gene

  1. Identification and Characterization of CD300H, a New Member of the Human CD300 Immunoreceptor Family. (PMID: 26221034) Niizuma K … Shibuya A (The Journal of biological chemistry 2015) 2 3 4 56
  2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 56

ExternalLinks

View latest publications for CD300H gene in Mastermind

Products for CD300H Gene

Sources for CD300H Gene