CD86

CD86 molecule, the group of V-set domain containing|CD molecules|B7 family

Basic information

Region (hg38): 3:122055361-122121139

Previous symbols: [ "CD28LG2" ]

Links

ENSG00000114013 ∙ NCBI:942 ∙ OMIM:601020 ∙ HGNC:1705 ∙ Uniprot:P42081 ∙ 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 CD86 gene.

• Inborn genetic diseases (14 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD86 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			12	2	2	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	2	2

Variants in CD86

This is a list of pathogenic ClinVar variants found in the CD86 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-122103518-C-T		not specified	Uncertain significance (Apr 22, 2022)
3-122103664-G-C		not specified	Uncertain significance (Jan 30, 2024)
3-122103665-A-G		not specified	Uncertain significance (Dec 20, 2023)
3-122103677-G-A		not specified	Likely benign (Nov 14, 2023)
3-122103694-A-G		not specified	Uncertain significance (Nov 19, 2022)
3-122103841-G-A		not specified	Uncertain significance (Nov 21, 2023)
3-122106221-G-T		not specified	Uncertain significance (Oct 25, 2022)
3-122106249-T-C		not specified	Uncertain significance (Jun 05, 2023)
3-122106251-T-C		not specified	Uncertain significance (May 06, 2022)
3-122106254-A-C		not specified	Uncertain significance (Aug 17, 2021)
3-122106305-A-G		not specified	Uncertain significance (May 15, 2023)
3-122106348-G-T		not specified	Uncertain significance (Oct 21, 2021)
3-122106408-C-G		not specified	Uncertain significance (Apr 08, 2022)
3-122106474-G-A		not specified	Likely benign (Mar 29, 2022)
3-122109381-A-C		not specified	Uncertain significance (Aug 30, 2021)
3-122109385-G-A		not specified	Likely benign (Mar 04, 2024)
3-122109391-G-A		not specified	Uncertain significance (Jun 23, 2021)
3-122119463-T-G		not specified	Uncertain significance (Jul 25, 2023)
3-122119472-G-A			Benign (Nov 10, 2018)
3-122119478-C-T		not specified	Likely benign (Sep 22, 2023)
3-122119479-G-A		not specified	Likely benign (Nov 21, 2022)
3-122119511-G-A			Benign (Mar 29, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD86	protein_coding	protein_coding	ENST00000330540	7	65771

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.949	0.0512	125708	0	2	125710	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.08	140	181	0.775	0.00000938	2195
Missense in Polyphen		29	50.359	0.57587		658
Synonymous	0.731	57	64.5	0.884	0.00000354	594
Loss of Function	3.19	1	13.8	0.0726	5.83e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor involved in the costimulatory signal essential for T-lymphocyte proliferation and interleukin-2 production, by binding CD28 or CTLA-4. May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T- cells within 24 hours after activation. Isoform 2 interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation.
• Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human);Type I diabetes mellitus - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Allograft rejection - Homo sapiens (human);Graft-versus-host disease - Homo sapiens (human);Viral myocarditis - Homo sapiens (human);Systemic lupus erythematosus - Homo sapiens (human);Autoimmune thyroid disease - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Intestinal immune network for IgA production - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Allograft Rejection;IL-3 Signaling Pathway;Macrophage markers;Interleukin-10 signaling;PI3K-AKT-mTOR - VitD3 Signalling;Macrophage markers;Inflammatory Response Pathway;Toll-like Receptor Signaling Pathway;Disease;Signal Transduction;the co-stimulatory signal during t-cell activation;IL12 signaling mediated by STAT4;CD28 dependent PI3K/Akt signaling;CD28 dependent Vav1 pathway;CD28 co-stimulation;CTLA4 inhibitory signaling;Costimulation by the CD28 family;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;TCR;Immune System;Adaptive Immune System;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K/AKT Signaling in Cancer;GPCR signaling-G alpha i;Intracellular signaling by second messengers;Diseases of signal transduction;TCR signaling in naïve CD8+ T cells;TCR signaling in naïve CD4+ T cells;CD4 T cell receptor signaling-JNK cascade;CD4 T cell receptor signaling-NFkB cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.623

Intolerance Scores

• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.53

Haploinsufficiency Scores

• pHI: 0.0569
• hipred: Y
• hipred_score: 0.538
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.658

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd86
• Phenotype: muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; hematopoietic 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); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: adaptive immune response;immune response;signal transduction;cell surface receptor signaling pathway;positive regulation of cell population proliferation;cytokine-mediated signaling pathway;T cell costimulation;positive regulation of T cell proliferation;negative regulation of T cell proliferation;positive regulation of lymphotoxin A biosynthetic process;positive regulation of interleukin-2 biosynthetic process;positive regulation of interleukin-4 biosynthetic process;positive regulation of T-helper 2 cell differentiation;positive regulation of transcription, DNA-templated;viral entry into host cell;phosphatidylinositol phosphorylation;positive regulation of protein kinase B signaling;cellular response to lipopolysaccharide
• Cellular component: plasma membrane;external side of plasma membrane;cell surface;integral component of membrane;extracellular exosome
• Molecular function: virus receptor activity;protein binding;coreceptor activity;signaling receptor activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity