Harmonizome 3.0

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene

Biliary cirrhosis, primary, 3

Biliary cirrhosis, primary, 2

Biliary cirrhosis, primary, 5

Biliary cirrhosis, primary, 4

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)

This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]

cutaneous malignant melanoma/dysplastic nevus

Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.[supplied by OMIM, Jul 2002]

malignant T cell amplified sequence 1

Enables RNA cap binding activity; ribosomal small subunit binding activity; and translation factor activity, non-nucleic acid binding. Involved in IRES-dependent viral translational initiation; cytoplasmic translational initiation; and ribosome disassembly. Is active in cytoplasm. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Mar 2025]

malignant fibrous histiocytoma amplified sequence 1

Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]

deleted in malignant brain tumors 1

Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]

Melanoma, cutaneous malignant, 4

malignant T cell amplified sequence 2, pseudogene

This locus represents a retrogene copy of MCTS1 (GeneID:28985) and contains an ORF similar to that parent gene. This locus is situated in a differentially methylated region (DMR) and transcripts in this region are imprinted. [provided by RefSeq, Nov 2021]

Melanoma, cutaneous malignant, susceptibility to, 7

malignant hyperthermia susceptibility 6

malignant hyperthermia susceptibility 4

malignant hyperthermia susceptibility 2

Malignant hyperthermia susceptibility 3

Malignant mesothelioma, susceptibility to

deleted in malignant brain tumors 1 pseudogene 1

deleted in malignant brain tumors 1 like 1 (pseudogene)