CD300H

Summary

CD300H (CD300H molecule (gene/pseudogene), HGNC:52292) is a protein-coding gene on chromosome 17q25.1, encoding Protein CD300H (A0A0K2S4Q6). May play an important role in innate immunity by mediating a signal for the production of a neutrophil chemoattractant.

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.

Source: NCBI Gene 100130520 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001324073

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52292
Approved symbol	CD300H
Name	CD300H molecule (gene/pseudogene)
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284690
Ensembl biotype	protein_coding
OMIM	616560
Entrez	100130520

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding_LoF

ENST00000641031, ENST00000641710

RefSeq mRNA: 3 — MANE Select: NM_001324073 NM_001324073, NM_001324076, NM_001405511

CCDS: CCDS86635, CCDS86636

Canonical transcript exons

ENST00000641710 — 4 exons

Exon	Start	End
ENSE00003811600	74563919	74564275
ENSE00003811996	74567283	74567343
ENSE00003812011	74560701	74560824
ENSE00003813925	74562834	74562897

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 96.10.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6972 / max 173.2636, expressed in 101 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167955	0.2413	53
167958	0.1899	60
167953	0.1528	34
167957	0.0509	20
167956	0.0413	17
167954	0.0210	11

Top tissues by expression

125 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	96.10	gold quality
leukocyte	CL:0000738	95.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.49	gold quality
granulocyte	CL:0000094	90.78	gold quality
blood	UBERON:0000178	86.86	gold quality
quadriceps femoris	UBERON:0001377	85.63	gold quality
spleen	UBERON:0002106	74.61	gold quality
thymus	UBERON:0002370	70.11	silver quality
vermiform appendix	UBERON:0001154	68.38	gold quality
cerebellar vermis	UBERON:0004720	67.75	gold quality
placenta	UBERON:0001987	62.48	gold quality
lymph node	UBERON:0000029	62.23	gold quality
upper lobe of left lung	UBERON:0008952	62.06	gold quality
right lung	UBERON:0002167	61.44	gold quality
smooth muscle tissue	UBERON:0001135	58.95	gold quality
gall bladder	UBERON:0002110	57.99	gold quality
lung	UBERON:0002048	57.46	gold quality
bone marrow	UBERON:0002371	57.09	gold quality
lower esophagus mucosa	UBERON:0035834	53.31	gold quality
mucosa of stomach	UBERON:0001199	51.80	gold quality
left uterine tube	UBERON:0001303	51.41	gold quality
fallopian tube	UBERON:0003889	50.40	gold quality
rectum	UBERON:0001052	49.83	gold quality
omental fat pad	UBERON:0010414	48.38	gold quality
mucosa of transverse colon	UBERON:0004991	44.90	gold quality
muscle tissue	UBERON:0002385	44.89	gold quality
descending thoracic aorta	UBERON:0002345	44.80	gold quality
bone marrow cell	CL:0002092	44.37	gold quality
adipose tissue	UBERON:0001013	44.19	gold quality
liver	UBERON:0002107	42.19	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Results suggest that CD300H may play an important role in innate immunity. (PMID:26221034)

Cross-species orthologs

0 orthologs

Paralogs (13): TREM2 (ENSG00000095970), TMIGD3 (ENSG00000121933), CD300LG (ENSG00000161649), TREML1 (ENSG00000161911), FCMR (ENSG00000162894), PIGR (ENSG00000162896), FCAMR (ENSG00000162897), CD300C (ENSG00000167850), CD300A (ENSG00000167851), CD300LB (ENSG00000178789), CD300LF (ENSG00000186074), CD300E (ENSG00000186407), CD300LD (ENSG00000204345)

Protein

Protein identifiers

Protein CD300H — A0A0K2S4Q6 (reviewed: A0A0K2S4Q6)

Alternative names: CD300 antigen-like family member H

All UniProt accessions (1): A0A0K2S4Q6

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Interacts with TYROBP and HCST.

Subcellular location. Membrane Secreted.

Tissue specificity. Expressed on CD16+ monocytes and myeloid dendritic cells (at protein level). By contrast, not detected in lymphocytes nor granulocytes (at protein level).

Polymorphism. The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a variant (called allele ‘A’) in the reference genome which abolishes the intron 1 donor splice site, leading to the loss of CD300H transcripts and consequently loss of protein. The variant shown in this entry (NM_001324073.1:c.61+1A>G, rs905709) restores the splicing of intron 1 and protein expression. This variant is common in the human population with a frequency of about 62% according to the Genome Aggregation Database (gnomAD v3.1.2).

Similarity. Belongs to the CD300 family.

Isoforms (2)

UniProt ID	Names	Canonical?
A0A0K2S4Q6-1	1, CD300H	yes
A0A0K2S4Q6-2	2, CD300Hs

RefSeq proteins (3): NP_001311002, NP_001311005, NP_001392440 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050671	CD300_family_receptors	Family

Pfam: PF07686

UniProt features (10 total): topological domain 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0K2S4Q6-F1	73.52	0.36

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 43–111

Glycosylation sites (1): 100

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_GRANULOCYTE_MIGRATION, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_DEFENSE_RESPONSE, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY

GO Biological Process (3): signal transduction (GO:0007165), neutrophil chemotaxis (GO:0030593), regulation of innate immune response (GO:0045088)

GO Molecular Function (2): transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
granulocyte chemotaxis	1
neutrophil migration	1
regulation of response to biotic stimulus	1
regulation of defense response	1
regulation of response to external stimulus	1
innate immune response	1
regulation of immune response	1
signaling receptor activity	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CD300H	TYROBP	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A0K2S4Q6, A2A7V7, A6NI73, A8K4G0, O43699, O75019, O75022, O75023, O75871, O76036, P0C191, P20138, P24071, P40198, P59901, P80943, Q08708, Q13410, Q28110, Q3U497, Q496F6, Q64JA4, Q6GTX8, Q6ISS4, Q6PI73, Q6UXZ3, Q7TSN2, Q863H2, Q8C567, Q8K249, Q8MJZ2, Q8MJZ7, Q8N149, Q8N423, Q8N6C8, Q8NHJ6, Q8NHL6, Q8VBT3, Q8VCH2, Q95JB9

Diamond homologs: A0A0K2S4Q6, A2A7V7, A2TGX5, A5D7B2, A8K4G0, O70570, P01832, P01833, P0DUB1, P15083, P81265, Q08708, Q1ERP8, Q3LRV9, Q3U497, Q496F6, Q566E6, Q6SJQ0, Q6SJQ5, Q6SJQ7, Q6UXG3, Q6UXZ3, Q7TSN2, Q8K249, Q8TDQ1, Q8VCH2, Q99NH8, Q9UGN4, O95944, Q2TB54, G3X8R9, P0DMS9, Q2LA85, O60667, Q86YW5, Q8K558, A1KXC4, Q29244, Q5M871, Q5R770

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1288 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:74564175:T:A	K54N	0.982
17:74564175:T:G	K54N	0.982
17:74564011:T:C	Y109C	0.970
17:74564176:T:A	K54I	0.961
17:74564169:C:A	W56C	0.958
17:74564169:C:G	W56C	0.958
17:74564055:G:C	F94L	0.953
17:74564055:G:T	F94L	0.953
17:74564057:A:G	F94L	0.953
17:74564011:T:G	Y109S	0.952
17:74564177:T:C	K54E	0.952
17:74564005:C:G	C111S	0.941
17:74564006:A:T	C111S	0.941
17:74564056:A:G	F94S	0.941
17:74564012:A:G	Y109H	0.937
17:74564012:A:C	Y109D	0.936
17:74564209:C:G	C43S	0.936
17:74564210:A:T	C43S	0.936
17:74564008:C:G	R110P	0.935
17:74564215:A:T	V41D	0.929
17:74564176:T:G	K54T	0.926
17:74564203:T:C	Y45C	0.920
17:74564056:A:C	F94C	0.918
17:74564171:A:G	W56R	0.915
17:74564171:A:T	W56R	0.915
17:74564181:A:C	F52L	0.913
17:74564181:A:T	F52L	0.913
17:74564183:A:G	F52L	0.913
17:74564017:C:A	G107V	0.912
17:74564177:T:G	K54Q	0.910

dbSNP variants (sampled 300 via entrez): RS1000143552 (17:74559438 T>A), RS1000405486 (17:74559035 T>C), RS1000789640 (17:74564425 G>A), RS1001315162 (17:74558545 C>T), RS1001397995 (17:74563073 G>A), RS1001473577 (17:74563774 T>C,G), RS1001766396 (17:74568015 C>A), RS1002197098 (17:74569190 G>A,T), RS1003492470 (17:74561932 C>G,T), RS1003520940 (17:74557559 A>G), RS1003667647 (17:74560558 AT>A,ATT), RS1003676693 (17:74562824 T>A,C), RS1003732626 (17:74568174 T>G), RS1004122132 (17:74556936 G>T), RS1004441563 (17:74561158 A>G)

Disease associations

OMIM: gene MIM:616560 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Methapyrilene	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.