CD200R1 CD200 receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD200R1provided by HGNC
Official Full Name: CD200 receptor 1provided by HGNC
Primary source: HGNC:HGNC:24235
See related: Ensembl:ENSG00000163606 MIM:607546; AllianceGenome:HGNC:24235
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OX2R; MOX2R; CD200R; HCRTR2
Summary: This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression: Broad expression in spleen (RPKM 4.6), placenta (RPKM 2.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (112921205..112975103, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (115642153..115696046, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (112640052..112693950, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The regulation of NFKB1 on CD200R1 expression and their potential roles in Parkinson's disease.
Title: The regulation of NFKB1 on CD200R1 expression and their potential roles in Parkinson's disease.
Myeloid cell expression of CD200R is modulated in active TB disease and regulates Mycobacterium tuberculosis infection in a biomimetic model.
Title: Myeloid cell expression of CD200R is modulated in active TB disease and regulates Mycobacterium tuberculosis infection in a biomimetic model.
CD200R promotes high glucose-induced oxidative stress and damage in human retinal pigment epithelial cells by activating the mTOR signaling pathway.
Title: CD200R promotes high glucose-induced oxidative stress and damage in human retinal pigment epithelial cells by activating the mTOR signaling pathway.
Inflammatory dendritic cells restrain CD11b[+]CD4[+] CTLs via CD200R in human NSCLC.
Title: Inflammatory dendritic cells restrain CD11b(+)CD4(+) CTLs via CD200R in human NSCLC.
Exploiting the CD200-CD200R immune checkpoint axis in multiple myeloma to enhance CAR T-cell therapy.
Title: Exploiting the CD200-CD200R immune checkpoint axis in multiple myeloma to enhance CAR T-cell therapy.
The Role of CD200-CD200 Receptor in Human Blood and Lymphatic Endothelial Cells in the Regulation of Skin Tissue Inflammation.
Title: The Role of CD200-CD200 Receptor in Human Blood and Lymphatic Endothelial Cells in the Regulation of Skin Tissue Inflammation.
Tumor-Infiltrating T Cells Concurrently Overexpress CD200R with Immune Checkpoints PD-1, CTLA-4, and TIM-3 in Non-Small-Cell Lung Cancer.
Title: Tumor-Infiltrating T Cells Concurrently Overexpress CD200R with Immune Checkpoints PD-1, CTLA-4, and TIM-3 in Non-Small-Cell Lung Cancer.
Up-regulation of CD200/CD200R1 Immunomodulatory Axis of Allogenic Peripheral Blood Mononuclear Cells in a Co-culture with Adipose-derived Mesenchymal Stem Cells.
Title: Up-regulation of CD200/CD200R1 Immunomodulatory Axis of Allogenic Peripheral Blood Mononuclear Cells in a Co-culture with Adipose-derived Mesenchymal Stem Cells.
Identification of a novel conserved signaling motif in CD200 receptor required for its inhibitory function.
Title: Identification of a novel conserved signaling motif in CD200 receptor required for its inhibitory function.
Identification of the CD200R1 promoter and the association of its polymorphisms with the risk of Parkinson's disease.
Title: Identification of the CD200R1 promoter and the association of its polymorphisms with the risk of Parkinson's disease.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481073

NoName (e-PCR)
- UniSTS:484321

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycosylated region protein binding	TAS Traceable Author Statement more info	PubMed
enables immunoglobulin receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Fc receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in heterotypic cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of T cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of macrophage migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuroinflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuroinflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cell surface glycoprotein CD200 receptor 1

Names: CD200 cell surface glycoprotein receptor; MOX2 receptor; cell surface glycoprotein OX2 receptor 1; cell surface glycoprotein receptor CD200

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)

NM_138806.4 → NP_620161.1 cell surface glycoprotein CD200 receptor 1 isoform a precursor

See identical proteins and their annotated locations for NP_620161.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript variant and encodes the longest isoform (a).

Source sequence(s)

AC074044, AF495380, AK126349, AY358910

Consensus CDS

CCDS2969.1

UniProtKB/Swiss-Prot

B3KWZ9, E9PCM9, Q52LJ7, Q6IS95, Q6UW94, Q6WHB8, Q8TD44, Q8TD45, Q8TD46, Q8TD52

UniProtKB/TrEMBL

B7ZKV2

Related

ENSP00000311035.3, ENST00000308611.8

Conserved Domains (1) summary

cl11960
Location:188 → 257

Ig; Immunoglobulin domain
NM_138939.3 → NP_620385.1 cell surface glycoprotein CD200 receptor 1 isoform b precursor

See identical proteins and their annotated locations for NP_620385.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1. This results in a frameshift and early stop codon, as well as loss of an immunoglobulin and transmembrane domain in the protein (isoform b), compared to isoform a.

Source sequence(s)

AC074044, AF497549, AK126349

Consensus CDS

CCDS46889.1

UniProtKB/Swiss-Prot

Q8TD46

Related

ENSP00000405733.2, ENST00000440122.6
NM_138940.3 → NP_620386.1 cell surface glycoprotein CD200 receptor 1 isoform c precursor

See identical proteins and their annotated locations for NP_620386.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains multiple differences in the coding region, compared to variant 1. This results in a frameshift and early stop codon, as well as loss of an immunoglobulin and transmembrane domain in the protein (isoform c), compared to isoform a.

Source sequence(s)

AC074044, AF497550, AK126349

Consensus CDS

CCDS54623.1

UniProtKB/Swiss-Prot

Q8TD46

Related

ENSP00000418801.1, ENST00000490004.1
NM_170780.3 → NP_740750.1 cell surface glycoprotein CD200 receptor 1 isoform d precursor

See identical proteins and their annotated locations for NP_740750.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) utilizes an alternate splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.

Source sequence(s)

AC074044, AF497548, AK126349

Consensus CDS

CCDS2970.1

UniProtKB/TrEMBL

B7ZKV2

Related

ENSP00000418928.1, ENST00000471858.5

Conserved Domains (2) summary

cd00096
Location:44 → 49

Ig; Ig strand A [structural motif]

cl11960
Location:44 → 150

Ig; Immunoglobulin domain