CD8B

CD8 subunit beta, the group of V-set domain containing|CD molecules

Basic information

Region (hg38): 2:86815338-86861924

Previous symbols: [ "CD8B1" ]

Links

ENSG00000172116 ∙ NCBI:926 ∙ OMIM:186730 ∙ HGNC:1707 ∙ Uniprot:P10966 ∙ 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 CD8B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD8B 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			11	3		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	3	0

Variants in CD8B

This is a list of pathogenic ClinVar variants found in the CD8B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-86815680-T-C		not specified	Likely benign (Feb 28, 2024)
2-86844935-G-A		not specified	Uncertain significance (Jan 06, 2023)
2-86846699-C-T		not specified	Uncertain significance (Dec 27, 2022)
2-86846759-G-C		not specified	Uncertain significance (Oct 26, 2021)
2-86853008-T-C		not specified	Uncertain significance (Jan 02, 2024)
2-86858080-C-A		not specified	Uncertain significance (Sep 17, 2021)
2-86858081-C-T		not specified	Uncertain significance (Mar 01, 2024)
2-86858102-C-T		not specified	Uncertain significance (Dec 06, 2022)
2-86858105-C-T		not specified	Likely benign (Sep 20, 2023)
2-86858110-A-G		not specified	Uncertain significance (Jul 07, 2022)
2-86858129-T-G		not specified	Uncertain significance (Dec 20, 2023)
2-86858167-C-T		not specified	Uncertain significance (Mar 28, 2023)
2-86858282-C-T		not specified	Uncertain significance (Aug 28, 2023)
2-86858326-A-G		not specified	Likely benign (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD8B	protein_coding	protein_coding	ENST00000331469	6	46586

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000401	0.652	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.523	112	129	0.870	0.00000759	1528
Missense in Polyphen		25	35.961	0.69519		474
Synonymous	0.689	46	52.3	0.879	0.00000317	495
Loss of Function	0.723	6	8.24	0.728	3.49e-7	112

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. A palmitoylation site in the cytoplasmic tail of CD8B chain contributes to partitioning of CD8 into the plasma membrane lipid rafts where signaling proteins are enriched. Once LCK recruited, it initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of cytotoxic T-lymphocytes (CTLs). Additionally, plays a critical role in thymic selection of CD8+ T-cells. {ECO:0000250|UniProtKB:P10300, ECO:0000269|PubMed:10925291, ECO:0000269|PubMed:11714755, ECO:0000269|PubMed:17145893}.
• Pathway: Antigen processing and presentation - Homo sapiens (human);Primary immunodeficiency - Homo sapiens (human);Cell adhesion molecules (CAMs) - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);T-Cell Receptor and Co-stimulatory Signaling;Disease;Host Interactions of HIV factors;HIV Infection;Infectious disease;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters;The role of Nef in HIV-1 replication and disease pathogenesis;Downstream signaling in naïve CD8+ T cells;TCR signaling in naïve CD8+ T cells;Nef Mediated CD8 Down-regulation;IL12-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.201

Intolerance Scores

• loftool: 0.207
• rvis_EVS: 1.55
• rvis_percentile_EVS: 95.6

Haploinsufficiency Scores

• pHI: 0.0856
• hipred: N
• hipred_score: 0.459
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd8b1
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: adaptive immune response;immune response;transmembrane receptor protein tyrosine kinase signaling pathway;T cell activation;regulation of defense response to virus by virus;regulation of immune response
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane;early endosome membrane;T cell receptor complex
• Molecular function: protein binding;coreceptor activity;MHC class I protein binding