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CD300H CD300H molecule (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 100130520, updated on 8-Mar-2024

Summary

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Official Symbol
CD300Hprovided by HGNC
Official Full Name
CD300H molecule (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:52292
See related
Ensembl:ENSG00000284690 MIM:616560; AllianceGenome:HGNC:52292
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CD300Hs
Summary
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]
Annotation information
Annotation category: suggests misassembly
Expression
Biased expression in spleen (RPKM 1.3), appendix (RPKM 0.8) and 5 other tissues See more
Orthologs
all
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Genomic context

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Location:
17q25.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74557243..74567509, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75447764..75458030, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72556840..72563648, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12711 Neighboring gene CD300 molecule like family member b Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72535116-72535616 Neighboring gene CD300c molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72546952-72547452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72547453-72547953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72564995-72565725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72565726-72566455 Neighboring gene CD300 molecule like family member d Neighboring gene CD300LD antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12713 Neighboring gene uncharacterized LOC101928343 Neighboring gene CD300e molecule

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification and Characterization of CD300H, a New Member of the Human CD300 Immunoreceptor Family. Niizuma K, et al. J Biol Chem, 2015 Sep 4. PMID 26221034, Free PMC Article
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results suggest that CD300H may play an important role in innate immunity.
    Title: Identification and Characterization of CD300H, a New Member of the Human CD300 Immunoreceptor Family.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein CD300H
Names
CD300 antigen-like family member H
CD300c molecule-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001324073.3 → NP_001311002.1  protein CD300H isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Based on data in PMID: 26221034, a G>A mutation (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. While the reference genome contains the 'A' allele at the SNP, this RefSeq is created to represent the functional allele (G).
    Source sequence(s)
    AC079325, ADDF02074771
    Consensus CDS
    CCDS86636.1
    UniProtKB/Swiss-Prot
    A0A0K2S4Q6, A0A0K2S5L2, A0A286YF48
    Related
    ENSP00000492977.1, ENST00000641710.1
    Conserved Domains (1) summary
    cd05716
    Location:30 → 113
    Ig_pIgR_like; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR) and similar domains

  2. NM_001324076.3 → NP_001311005.1  protein CD300H isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region, resulting in a frameshift and an early stop codon. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Based on data in PMID: 26221034, a G>A mutation (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. While the reference genome contains the 'A' allele at the SNP, this RefSeq is created to represent the functional allele (G).
    Source sequence(s)
    AC079325, ADDF02074771
    Consensus CDS
    CCDS86635.1
    UniProtKB/TrEMBL
    A0A0K2S4Q6, A0A0K2S5L2, A0A286YF48
    Related
    ENSP00000492997.1, ENST00000641031.1
    Conserved Domains (2) summary
    cd05716
    Location:30 → 113
    Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
    smart00410
    Location:28 → 111
    IG_like; Immunoglobulin like

  3. NM_001405511.1 → NP_001392440.1  protein CD300H isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC079325

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74557243..74567509 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525569.3 → XP_011523871.1  protein CD300H isoform X1

    See identical proteins and their annotated locations for XP_011523871.1

    Conserved Domains (1) summary
    cd05716
    Location:30 → 113
    Ig_pIgR_like; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR) and similar domains

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791806.1 Reference GRCh38.p14 PATCHES

    Range
    133692..143957 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333224.1 → XP_054189199.1  protein CD300H isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75447764..75458030 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314610.1 → XP_054170585.1  protein CD300H isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0K2S4Q6.1 GenPept UniProtKB/Swiss-Prot:A0A0K2S4Q6

Gene LinkOut

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