Overview

Location [1]
7p22.2
Protein [2]
Caspase recruitment domain-containing protein 11
Synonyms [1]
BENTA, IMD11, BIMP3, CARMA1, IMD11A, PPBL

Caspase recruitment domain family, member 11 (CARD11) is a gene that encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The protein functions in the regulation of the assembly of multiprotein complexes of the plasma membrane. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

CARD11 is altered in 3.25% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

CARD11 GENIE Cases - Top Diseases

The most common alterations in CARD11 are CARD11 Mutation (2.65%), CARD11 Amplification (0.33%), CARD11 Loss (0.10%), CARD11 D357V (0.04%), and CARD11 G540R (0.02%) [3].

CARD11 GENIE Cases - Top Alterations

Significance of CARD11 in Diseases

Diffuse Large B-Cell Lymphoma +

Mycosis Fungoides +

Anaplastic Large Cell Lymphoma +

Cancer +

Head And Neck Squamous Cell Carcinoma +

Cervical Carcinoma +

Peripheral T-Cell Lymphoma, Not Otherwise Specified +

Angioimmunoblastic T-Cell Lymphoma +

Adult T-Cell Acute Lymphoblastic Leukemia +

Enteropathy-Associated T-Cell Lymphoma +

Follicular T-Cell Lymphoma +

Hepatosplenic T-Cell Lymphoma +

Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma +

Nasal Type Extranodal NK/T-Cell Lymphoma +

Nodal Peripheral T-Cell Lymphoma With TFH Phenotype +

Peripheral T-Cell Lymphoma +

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma +

Sezary Syndrome +

Subcutaneous Panniculitis-Like T-Cell Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.