CD200R1L

Summary

CD200R1L (CD200 receptor 1 like, HGNC:24665) is a protein-coding gene on chromosome 3q13.2, encoding Cell surface glycoprotein CD200 receptor 2 (Q6Q8B3). May be a receptor for the CD200/OX2 cell surface glycoprotein.

Predicted to enable signaling receptor activity. Predicted to be involved in regulation of neuroinflammatory response. Predicted to be located in cell surface and membrane. Predicted to be active in external side of plasma membrane.

Source: NCBI Gene 344807 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total — 1 pathogenic
• MANE Select transcript: NM_001199215

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24665
Approved symbol	CD200R1L
Name	CD200 receptor 1 like
Location	3q13.2
Locus type	gene with protein product
Status	Approved
Aliases	CD200RLa, CD200R2
Ensembl gene	ENSG00000206531
Ensembl biotype	protein_coding
Entrez	344807

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000398214, ENST00000486723, ENST00000488794

RefSeq mRNA: 3 — MANE Select: NM_001199215 NM_001008784, NM_001199215, NM_001370552

CCDS: CCDS43131, CCDS56267

Canonical transcript exons

ENST00000488794 — 8 exons

Exon	Start	End
ENSE00001853039	112846625	112846864
ENSE00003480962	112845679	112845950
ENSE00003528729	112829319	112829384
ENSE00003616893	112826993	112827241
ENSE00003658369	112819772	112819895
ENSE00003658627	112827367	112827684
ENSE00003660693	112837942	112838010
ENSE00003936316	112815711	112815975

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 87.79.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.41	gold quality
testis	UBERON:0000473	56.57	gold quality
left testis	UBERON:0004533	56.37	gold quality
right testis	UBERON:0004534	55.12	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	51.69	gold quality
monocyte	CL:0000576	49.03	gold quality
leukocyte	CL:0000738	48.46	gold quality
duodenum	UBERON:0002114	40.08	gold quality
bone marrow cell	CL:0002092	38.86	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
prefrontal cortex	UBERON:0000451	37.17	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow	UBERON:0002371	35.57	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.05	gold quality
superior frontal gyrus	UBERON:0002661	34.65	silver quality
muscle tissue	UBERON:0002385	33.65	gold quality
vermiform appendix	UBERON:0001154	33.42	silver quality
blood	UBERON:0000178	33.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
frontal cortex	UBERON:0001870	31.85	gold quality
endometrium	UBERON:0001295	31.26	silver quality
primary visual cortex	UBERON:0002436	31.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	30.11	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right uterine tube	UBERON:0001302	29.51	gold quality
saliva-secreting gland	UBERON:0001044	29.45	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.27
E-GEOD-110499	no	6.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting CD200R1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-6511A-3P	97.60	66.61	713
HSA-MIR-6511B-3P	97.60	66.61	713
HSA-MIR-6802-5P	94.94	65.95	366
HSA-MIR-135A-3P	94.19	66.09	495

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cd200r1	ENSMUSG00000022667
mus_musculus	Cd200r3	ENSMUSG00000036172
mus_musculus	Cd200r4	ENSMUSG00000062082
mus_musculus	Cd200r2	ENSMUSG00000090176
rattus_norvegicus	Cd200r1l	ENSRNOG00000002046
rattus_norvegicus	Cd200r1	ENSRNOG00000039048

Paralogs (1): CD200R1 (ENSG00000163606)

Protein

Protein identifiers

Cell surface glycoprotein CD200 receptor 2 — Q6Q8B3 (reviewed: Q6Q8B3)

Alternative names: CD200 cell surface glycoprotein receptor-like 2, CD200 cell surface glycoprotein receptor-like a, Cell surface glycoprotein CD200 receptor 1-like, Cell surface glycoprotein OX2 receptor 2

All UniProt accessions (2): Q6Q8B3, F8WDF0

UniProt curated annotations — full annotation on UniProt →

Function. May be a receptor for the CD200/OX2 cell surface glycoprotein.

Subcellular location. Membrane.

Similarity. Belongs to the CD200R family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6Q8B3-1	1	yes
Q6Q8B3-2	2

RefSeq proteins (3): NP_001008784, NP_001186144, NP_001357481 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007110	Ig-like_dom	Domain
IPR013162	CD80_C2-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR040012	CD200R	Family

Pfam: PF08205

UniProt features (16 total): glycosylation site 6, topological domain 2, domain 2, signal peptide 1, chain 1, disulfide bond 1, splice variant 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6Q8B3-F1	83.50	0.59

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): 160–209

Glycosylation sites (6): 92, 189, 217, 30, 39, 86

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): GOBP_INFLAMMATORY_RESPONSE, GOCC_CELL_SURFACE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE, GOCC_SIDE_OF_MEMBRANE, GOCC_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE, GOBP_NEUROINFLAMMATORY_RESPONSE, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE14415_INDUCED_TREG_VS_FAILED_INDUCED_TREG_DN, GSE13547_2H_VS_12_H_ANTI_IGM_STIM_BCELL_UP, GSE13547_CTRL_VS_ANTI_IGM_STIM_BCELL_2H_UP, GSE13547_2H_VS_12_H_ANTI_IGM_STIM_ZFX_KO_BCELL_UP, GSE13547_WT_VS_ZFX_KO_BCELL_UP

GO Biological Process (1): regulation of neuroinflammatory response (GO:0150077)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (3): external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
regulation of inflammatory response	1
neuroinflammatory response	1
molecular transducer activity	1
binding	1
plasma membrane	1
cell surface	1
side of membrane	1

Protein interactions and networks

STRING

140 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD200R1L	CD200	P41217	588
CD200R1L	TYROBP	O43914	535
CD200R1L	SIRPA	P78324	426
CD200R1L	CD200R1	Q8TD46	399
CD200R1L	DOK2	O60496	355
CD200R1L	TIGD2	Q4W5G0	324
CD200R1L	CPA6	Q8N4T0	312
CD200R1L	ZNF816	Q0VGE8	306
CD200R1L	CLVS1	Q8IUQ0	297
CD200R1L	PCNX2	A6NKB5	270
CD200R1L	TAS2R50	P59544	269
CD200R1L	CD101	Q93033	252
CD200R1L	IL18R1	Q13478	225
CD200R1L	MAMSTR	Q6ZN01	224
CD200R1L	CACNA2D4	Q7Z3S7	220

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CD200R1L	NKX3-1	psi-mi:“MI:0915”(physical association)	0.560
CD200R1L	IGSF10	psi-mi:“MI:0915”(physical association)	0.400
P		psi-mi:“MI:0914”(association)	0.350
NKX3-1	CD200R1L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): CD200R1L (Two-hybrid), CD200R1L (Affinity Capture-MS)

ESM2 similar proteins: A0A0E4BZH1, A4QPC6, A5D7V5, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XV04, A7XV07, A8K4G0, A8MVZ5, O70355, P08508, P18892, P24071, P31994, P55803, P78410, P79391, Q13410, Q16653, Q29ZQ1, Q3KPI0, Q58DF9, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6Q8B3, Q6UXZ3, Q6XJV4, Q6XJV6, Q7KYR7, Q7TST0, Q7YR73, Q8BTP3, Q8K249, Q8TD46

Diamond homologs: A5D7V5, Q2YHT5, Q2YHT7, Q5R412, Q5UKY4, Q6Q8B3, Q6XJV4, Q6XJV6, Q7Z3B1, Q80Z24, Q8BTP3, Q8TD46, Q9ES57, Q9ES58, Q9W6V2, Q9Z0J8, A2AJ76, Q8NDA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	Pathogenic

SpliceAI

1174 predictions. Top by Δscore:

Variant	Effect	Δscore
3:112827242:C:CC	acceptor_gain	1.0000
3:112827626:G:T	acceptor_gain	1.0000
3:112822214:T:TA	donor_gain	0.9900
3:112827237:TGTAA:T	acceptor_gain	0.9900
3:112827238:GTAA:G	acceptor_gain	0.9900
3:112827239:TAA:T	acceptor_gain	0.9900
3:112827240:AA:A	acceptor_gain	0.9900
3:112827241:AC:A	acceptor_loss	0.9900
3:112827242:C:CG	acceptor_loss	0.9900
3:112827625:CGA:C	acceptor_gain	0.9900
3:112827627:A:C	acceptor_gain	0.9900
3:112845677:A:AC	donor_gain	0.9900
3:112845678:C:CC	donor_gain	0.9900
3:112826987:GCTT:G	donor_loss	0.9800
3:112826988:CTTA:C	donor_loss	0.9800
3:112826989:TTACC:T	donor_loss	0.9800
3:112826990:TACC:T	donor_loss	0.9800
3:112826991:ACCT:A	donor_loss	0.9800
3:112826992:CCT:C	donor_loss	0.9800
3:112827245:C:CT	acceptor_gain	0.9800
3:112827362:CTTAC:C	donor_loss	0.9800
3:112827364:T:TA	donor_loss	0.9800
3:112827365:A:AA	donor_loss	0.9800
3:112827366:C:CT	donor_loss	0.9800
3:112845672:GACTT:G	donor_loss	0.9800
3:112845673:ACTT:A	donor_loss	0.9800
3:112845674:CTT:C	donor_loss	0.9800
3:112845675:TTA:T	donor_loss	0.9800
3:112845676:T:TG	donor_loss	0.9800
3:112845678:CCAGA:C	donor_gain	0.9800

AlphaMissense

1620 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:112827395:G:C	F134L	0.793
3:112827395:G:T	F134L	0.793
3:112827397:A:G	F134L	0.793
3:112827596:C:A	W67C	0.752
3:112827596:C:G	W67C	0.752
3:112827155:A:G	W173R	0.712
3:112827155:A:T	W173R	0.712
3:112819795:G:C	F260L	0.691
3:112819795:G:T	F260L	0.691
3:112819797:A:G	F260L	0.691
3:112827153:C:A	W173C	0.691
3:112827153:C:G	W173C	0.691
3:112827497:C:A	W100C	0.684
3:112827497:C:G	W100C	0.684
3:112827033:A:C	H213Q	0.680
3:112827033:A:T	H213Q	0.680
3:112827084:A:C	S196R	0.677
3:112827084:A:T	S196R	0.677
3:112827086:T:G	S196R	0.677
3:112827219:A:C	F151L	0.673
3:112827219:A:T	F151L	0.673
3:112827221:A:G	F151L	0.673
3:112827462:A:G	I112T	0.666
3:112827160:A:G	I171T	0.653
3:112827499:A:G	W100R	0.640
3:112827499:A:T	W100R	0.640
3:112819792:G:C	F261L	0.619
3:112819792:G:T	F261L	0.619
3:112819794:A:G	F261L	0.619
3:112827598:A:G	W67R	0.616

dbSNP variants (sampled 300 via entrez): RS1000126481 (3:112833735 A>G), RS1000141494 (3:112822115 A>G), RS1000220356 (3:112846621 G>A), RS1000234528 (3:112840264 G>A,C), RS1000301610 (3:112820632 T>C), RS1000369959 (3:112820337 T>C), RS1000428543 (3:112821812 T>A), RS1000856188 (3:112825925 T>G), RS1001310793 (3:112828520 A>G), RS1001485782 (3:112836909 A>G), RS1001549820 (3:112820359 T>A,G), RS1001696407 (3:112843304 A>G), RS1001929797 (3:112823966 A>C,G), RS1002001437 (3:112843618 A>G), RS1002010641 (3:112846214 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012049_5	High density lipoprotein cholesterol levels	6.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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