CD200

CD200 molecule, the group of Immunoglobulin like domain containing|CD molecules

Basic information

Region (hg38): 3:112332346-112362812

Previous symbols: [ "MOX1", "MOX2" ]

Links

ENSG00000091972 ∙ NCBI:4345 ∙ OMIM:155970 ∙ HGNC:7203 ∙ Uniprot:P41217 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD200 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD200 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	7	1	0

Variants in CD200

This is a list of pathogenic ClinVar variants found in the CD200 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-112333220-G-C		not specified	Uncertain significance (Jul 11, 2023)
3-112336011-T-A		not specified	Uncertain significance (Nov 29, 2021)
3-112340957-C-T		not specified	Uncertain significance (Oct 06, 2023)
3-112340974-A-G		not specified	Likely benign (Jul 12, 2023)
3-112345110-C-A		not specified	Uncertain significance (Nov 22, 2022)
3-112345282-G-A		not specified	Uncertain significance (Jun 24, 2022)
3-112347589-C-A		not specified	Uncertain significance (Apr 25, 2022)
3-112347701-C-A		not specified	Uncertain significance (Mar 29, 2023)
3-112349730-C-T		not specified	Uncertain significance (Jun 07, 2023)
3-112349799-G-A		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD200	protein_coding	protein_coding	ENST00000473539	7	30466

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.414	0.585	125735	0	10	125745	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.656	138	161	0.855	0.00000837	1903
Missense in Polyphen		32	46.733	0.68474		599
Synonymous	-0.0777	65	64.2	1.01	0.00000327	600
Loss of Function	2.70	3	13.9	0.217	5.88e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000547	0.0000544
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues.
• Pathway: Vitamin D Receptor Pathway;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Recessive Scores

• pRec: 0.167

Intolerance Scores

• loftool: 0.490
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.25

Haploinsufficiency Scores

• pHI: 0.312
• hipred: N
• hipred_score: 0.212
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.737

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cd200
• Phenotype: hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of leukocyte activation;negative regulation of cell population proliferation;negative regulation of NF-kappaB transcription factor activity;positive regulation of CREB transcription factor activity;heterotypic cell-cell adhesion;negative regulation of macrophage activation;regulation of immune response;positive regulation of transforming growth factor beta production;cell-cell adhesion;positive regulation of arginase activity;positive regulation of protein-glutamine gamma-glutamyltransferase activity;regulation of neuroinflammatory response;negative regulation of neuroinflammatory response;negative regulation of interleukin-6 secretion;negative regulation of neuron death;negative regulation of matrix metallopeptidase secretion;negative regulation of macrophage migration;negative regulation of T cell migration
• Cellular component: plasma membrane;integral component of plasma membrane;cell surface;membrane;axon;neuron projection;neuronal cell body;cell body
• Molecular function: protein binding;protein binding involved in heterotypic cell-cell adhesion;glycosylated region protein binding