Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11314
Gene name	CD300a molecule
Gene symbol	CD300A
Synonyms (NCBI Gene)	CLM-8CMRF-35-H9CMRF-35HCMRF35-HCMRF35-H9CMRF35HCMRF35H9IGSF12IRC1IRC1/IRC2IRC2IRp60
Chromosome	17
Chromosome location	17q25.1
Summary	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. Multi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019435	hsa-miR-148b-3p	Microarray	17612493
MIRT022030	hsa-miR-128-3p	Microarray	17612493
MIRT874864	hsa-miR-4641	CLIP-seq
MIRT874865	hsa-miR-4712-3p	CLIP-seq
MIRT1959396	hsa-miR-1203	CLIP-seq
MIRT1959397	hsa-miR-1231	CLIP-seq
MIRT1959398	hsa-miR-1253	CLIP-seq
MIRT1959399	hsa-miR-1273f	CLIP-seq
MIRT1959400	hsa-miR-143	CLIP-seq
MIRT1959401	hsa-miR-3150a-3p	CLIP-seq
MIRT1959402	hsa-miR-3175	CLIP-seq
MIRT1959403	hsa-miR-370	CLIP-seq
MIRT1959404	hsa-miR-3929	CLIP-seq
MIRT1959405	hsa-miR-4251	CLIP-seq
MIRT1959406	hsa-miR-4288	CLIP-seq
MIRT1959407	hsa-miR-4328	CLIP-seq
MIRT1959408	hsa-miR-4419b	CLIP-seq
MIRT1959409	hsa-miR-4478	CLIP-seq
MIRT1959410	hsa-miR-4640-5p	CLIP-seq
MIRT1959411	hsa-miR-4677-3p	CLIP-seq
MIRT1959412	hsa-miR-4679	CLIP-seq
MIRT1959413	hsa-miR-4708-5p	CLIP-seq
MIRT1959414	hsa-miR-4726-5p	CLIP-seq
MIRT1959415	hsa-miR-4770	CLIP-seq
MIRT1959416	hsa-miR-502-5p	CLIP-seq
MIRT1959417	hsa-miR-632	CLIP-seq
MIRT1959418	hsa-miR-939	CLIP-seq
MIRT1959397	hsa-miR-1231	CLIP-seq
MIRT1959399	hsa-miR-1273f	CLIP-seq
MIRT1959400	hsa-miR-143	CLIP-seq
MIRT1959401	hsa-miR-3150a-3p	CLIP-seq
MIRT1959402	hsa-miR-3175	CLIP-seq
MIRT1959406	hsa-miR-4288	CLIP-seq
MIRT1959411	hsa-miR-4677-3p	CLIP-seq
MIRT1959412	hsa-miR-4679	CLIP-seq
MIRT1959413	hsa-miR-4708-5p	CLIP-seq
MIRT1959415	hsa-miR-4770	CLIP-seq
MIRT1959417	hsa-miR-632	CLIP-seq
MIRT1959418	hsa-miR-939	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IDA	22302738
GO:0002376	Process	Immune system process	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	10540326, 16254138, 16339535, 20959446, 25416956, 29051512, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0008429	Function	Phosphatidylethanolamine binding	IDA	22302738
GO:0016020	Component	Membrane	IDA	10540326, 16339535, 21482706
GO:0016020	Component	Membrane	IEA
GO:0030889	Process	Negative regulation of B cell proliferation	IMP	21482706
GO:0033007	Process	Negative regulation of mast cell activation involved in immune response	IDA	16339535
GO:0034125	Process	Negative regulation of MyD88-dependent toll-like receptor signaling pathway	IMP	22043923
GO:0035556	Process	Intracellular signal transduction	IDA	16339535
GO:0038023	Function	Signaling receptor activity	IDA	16339535, 22046970
GO:0043305	Process	Negative regulation of mast cell degranulation	IDA	16339535
GO:0043407	Process	Negative regulation of MAP kinase activity	IDA	16254138
GO:0045088	Process	Regulation of innate immune response	IBA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IDA	16254138
GO:0050856	Process	Regulation of T cell receptor signaling pathway	IDA	22046970
GO:0050859	Process	Negative regulation of B cell receptor signaling pathway	IDA	21482706
GO:0051134	Process	Negative regulation of NK T cell activation	IDA	10540326
GO:0060101	Process	Negative regulation of phagocytosis, engulfment	IMP	22302738
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	17588661
GO:1902567	Process	Negative regulation of eosinophil activation	IDA	16254138
GO:2000417	Process	Negative regulation of eosinophil migration	IDA	16254138

MIM	HGNC	e!Ensembl
606790	19319	ENSG00000167851

Q9UGN4

Protein name

CMRF35-like molecule 8 (CLM-8) (CD300 antigen-like family member A) (CMRF-35-H9) (CMRF35-H9) (CMRF35-H) (IRC1/IRC2) (Immunoglobulin superfamily member 12) (IgSF12) (Inhibitory receptor protein 60) (IRp60) (NK inhibitory receptor) (CD antigen CD300a)

Protein 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 th

PDB

2Q87

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	20 → 123	Immunoglobulin V-set domain	Domain
PF15330	SIT	180 → 277		Family

Tissue specificity

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. {ECO:0000269|PubMed:10540326, ECO:0000269|PubMed:16339535, ECO:0000269|PubMed:9701027}.

Sequence

MWLPWALLLLWVPGCFALSKCRTVAGPVGGSLSVQCPYEKEHRTLNKYWCRPPQIFLCDK
IVETKGSAGKRNGRVSIRDSPANLSFTVTLENLTEEDAGTYWCGVDTPWLRDFHDPVVEV
EVSVFPASTSMTPASITAAKTSTITTAFPPVSSTTLFAVGATHSASIQEETEEVVNSQLP
LLLSLLALLLLLLVGASLLAWRMFQKWIKAGDHSELSQNPKQAATQSELHYANLELLMWP
LQEKPAPPREVEVEYSTVASPREELHYASVVFDSNTNRIAAQRPREEEPDSDYSVIRKT

Sequence length

299

Interactions

View interactions

	Reactome
			Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Neutrophil degranulation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Chorioamnionitis	Associate	22077960	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Associate	35144391	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Inhibit	21482706	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	32269232	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Inhibit	30690753	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Stimulate	24131792	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia Brain	Stimulate	24131792	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	21482706	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	24131792	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	29720577, 35642341	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mast Cell Activation Syndrome	Associate	35281031	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	9047241	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	35642341	★★★★★ ★☆☆☆☆ Found in Text Mining only
T cell immunodeficiency primary	Associate	35642341	★★★★★ ★☆☆☆☆ Found in Text Mining only
Virus Diseases	Associate	32269232	★★★★★ ★☆☆☆☆ Found in Text Mining only

CD300A (CD300a molecule)