CD24

CD24 molecule, the group of CD molecules

Basic information

Region (hg38): 6:106969831-106975627

Links

∙ NCBI:100133941 ∙ OMIM:600074 ∙ HGNC:1645 ∙ Uniprot:P25063 ∙ 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 CD24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD24 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: May have a pivotal role in cell differentiation of different cell types. Signaling could be triggered by the binding of a lectin-like ligand to the CD24 carbohydrates, and transduced by the release of second messengers derived from the GPI-anchor. Modulates B-cell activation responses. Promotes AG-dependent proliferation of B-cells, and prevents their terminal differentiation into antibody-forming cells (PubMed:11313396). In association with SIGLEC10 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90. Plays a role in the control of autoimmunity (By similarity). {ECO:0000250|UniProtKB:P24807, ECO:0000269|PubMed:11313396}.;
Disease: DISEASE: Multiple sclerosis (MS) [MIM:126200]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269|PubMed:14657362}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.;
Pathway: Hematopoietic cell lineage - Homo sapiens (human);Developmental Biology;L1CAM interactions;Axon guidance (Consensus)

Recessive Scores

pRec: 0.0633

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Mouse Genome Informatics

Gene name: Cd24a
Phenotype: immune system phenotype; hematopoietic system phenotype; reproductive system phenotype;

Gene ontology

Biological process: response to hypoxia;cell activation;regulation of cytokine-mediated signaling pathway;response to molecule of bacterial origin;immune response-regulating cell surface receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;Wnt signaling pathway;cell migration;regulation of epithelial cell differentiation;T cell costimulation;B cell receptor transport into membrane raft;chemokine receptor transport out of membrane raft;negative regulation of transforming growth factor beta3 production;positive regulation of activated T cell proliferation;regulation of phosphorylation;cholesterol homeostasis;positive regulation of MAP kinase activity;regulation of MAPK cascade;response to estrogen;respiratory burst;positive regulation of protein tyrosine kinase activity;glomerular visceral epithelial cell differentiation;glomerular parietal epithelial cell differentiation;intrinsic apoptotic signaling pathway;cell-cell adhesion;positive regulation of nephron tubule epithelial cell differentiation
Cellular component: cell surface;membrane;anchored component of external side of plasma membrane;membrane raft
Molecular function: protein binding;protein kinase binding;protein tyrosine kinase activator activity