CD81

CD81 molecule, the group of Tetraspanins|CD molecules

Basic information

Region (hg38): 11:2376177-2397802

Previous symbols: [ "TAPA1" ]

Links

ENSG00000110651NCBI:975OMIM:186845HGNC:1701Uniprot:P60033AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • common variable immunodeficiency (Supportive), mode of inheritance: AD
  • immunodeficiency, common variable, 6 (Limited), mode of inheritance: Unknown
  • immunodeficiency, common variable, 6 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Immunodeficiency, common variable, 6ARAllergy/Immunology/InfectiousAntiinfectious prophylaxis and early and aggressive treatment of infections may be beneficialAllergy/Immunology/Infectious; Renal20237408

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD81 gene.

  • not_provided (243 variants)
  • not_specified (21 variants)
  • Immunodeficiency,_common_variable,_6 (10 variants)
  • CD81-related_disorder (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD81 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004356.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
61
clinvar
4
clinvar
67
missense
89
clinvar
1
clinvar
90
nonsense
1
clinvar
1
start loss
0
frameshift
2
clinvar
2
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 95 62 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CD81protein_codingprotein_codingENST00000263645 821243
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9180.0815125029011250300.00000400
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8061101370.8060.000008581545
Missense in Polyphen3967.170.58062719
Synonymous-2.047959.01.340.00000437445
Loss of Function3.01112.40.08045.42e-7149

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play an important role in the regulation of lymphoma cell growth. Interacts with a 16-kDa Leu-13 protein to form a complex possibly involved in signal transduction. May act as the viral receptor for HCV.;
Disease
DISEASE: Immunodeficiency, common variable, 6 (CVID6) [MIM:613496]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269|PubMed:20237408}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
B cell receptor signaling pathway - Homo sapiens (human);Malaria - Homo sapiens (human);Hepatitis C - Homo sapiens (human);B Cell Receptor Signaling Pathway;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;BCR;Regulation of Complement cascade;Complement cascade;Beta1 integrin cell surface interactions;Alpha4 beta1 integrin signaling events (Consensus)

Recessive Scores

pRec
0.392

Intolerance Scores

loftool
0.219
rvis_EVS
-0.34
rvis_percentile_EVS
30.07

Haploinsufficiency Scores

pHI
0.142
hipred
Y
hipred_score
0.825
ghis
0.615

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.660

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cd81
Phenotype
hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; 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); growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
activation of MAPK activity;cell surface receptor signaling pathway;protein localization;cell population proliferation;positive regulation of cell population proliferation;regulation of complement activation;positive regulation of B cell proliferation;receptor internalization;regulation of protein stability;positive regulation of 1-phosphatidylinositol 4-kinase activity;positive regulation of transcription by RNA polymerase II;viral entry into host cell;receptor-mediated virion attachment to host cell;positive regulation of peptidyl-tyrosine phosphorylation;regulation of immune response;protein localization to lysosome;cellular response to low-density lipoprotein particle stimulus;positive regulation of protein catabolic process in the vacuole;regulation of cell motility
Cellular component
immunological synapse;plasma membrane;integral component of plasma membrane;focal adhesion;membrane;basolateral plasma membrane;vesicle;extracellular exosome
Molecular function
virus receptor activity;integrin binding;protein binding;MHC class II protein complex binding;transferrin receptor binding