| 10884 | Mbp | myelin basic protein | The protein encoded by the classic Mbp gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, Mbp-related transcripts are also present in the bone marrow and th e immune system. These mRNAs arise from the long Mbp gene (otherwise called "Golli-Mbp") that contains 3 additional exons located upstream of the classic Mbp exons. Alternative splicing from the Golli and the Mbp transcription start sites gives rise to 2 sets of Mbp-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-Mbp, spliced in-frame to 1 or more Mbp exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to Mbp aa sequence. The second family of transcripts contain only Mbp exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the Mbp transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. Mutation of the Mbp gene is associated with the 'shiverer' and 'myelin deficient' phenotypes in mouse. [provided by RefSeq, Jul 2008] | 18 | 82492883 | 82603762 | Mouse | 355 | symbol , PhenoGen , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1551771 | Efemp2 | epidermal growth factor-containing fibulin-like extracellular matrix protein 2 | Predicted to enable heparin binding activity and protein homodimerization activity. Involved in several processes, including elastic fiber assembly; negative regulation of vascular associated smooth muscle cell proliferation; and vasculature development. Acts upstream of or within artery development . Located in basement membrane; elastic fiber; and microfibril. Is expressed in several structures, including central nervous system; genitourinary system; gut; immune system; and respiratory system. Used to study aortic aneurysm and cutis laxa. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). [provided by Alliance of Genome Resources, Jul 2025] | 19 | 5523974 | 5532548 | Mouse | 231 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 732763 | Mbl1 | mannose-binding lectin (protein A) 1 | Predicted to enable several functions, including D-mannose binding activity; calcium-dependent carbohydrate binding activity; and phosphatidylinositol-4-phosphate binding activity. Acts upstream of or within defense response to other organism and positive regulation of phagocytosis. Located in extra cellular space. Orthologous to human MBL1P (mannose binding lectin 1, pseudogene). [provided by Alliance of Genome Resources, Apr 2025] | 14 | 40873413 | 40885861 | Mouse | 148 | old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 737333 | Prg2 | proteoglycan 2, bone marrow | Predicted to enable carbohydrate binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Acts upstream of or within defense response to nematode and regulation of cytokine production. Located in collagen-containing extracellular matrix. Is expressed in several structures, including immune system; liver; lung; and male reproductive gland or organ. Orthologous to human PRG2 (proteoglycan 2, pro eosinophil major basic protein). [provided by Alliance of Genome Resources, Apr 2025] | 2 | 84810805 | 84813977 | Mouse | 100 | old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1320502 | Prg3 | proteoglycan 3 | Predicted to enable carbohydrate binding activity. Predicted to be involved in several processes, including granulocyte activation; histamine biosynthetic process; and regulation of gene expression. Is expressed in several structures, including gut; hemolymphoid system; liver; lung; and reproductive system. Orthologous to human PRG3 (proteoglycan 3, pro eosinophil major basic protein 2). [provided by Alliance of Genome Resources, Jul 2025] | 2 | 84818540 | 84826903 | Mouse | 41 | old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 10521 | Eno1 | enolase 1, alpha non-neuron | Enables RNA binding activity and phosphopyruvate hydratase activity. Involved in gluconeogenesis and glycolytic process. Acts upstream of or within cellular response to interleukin-7 and in utero embryonic development. Located in cell surface. Is active in cytosol. Is expressed in several structures , including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human ENO1 (enolase 1). [provided by Alliance of Genome Resources, Jul 2025] | 4 | 150321165 | 150333336 | Mouse | 448 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 731472 | Mbl2 | mannose-binding lectin (protein C) 2 | Predicted to enable several functions, including calcium-dependent protein binding activity; monosaccharide binding activity; and phosphatidylinositol-4-phosphate binding activity. Acts upstream of or within defense response to other organism and positive regulation of phagocytosis. Located in extra cellular space. Is expressed in early conceptus and embryo. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); bacterial infectious disease (multiple); fungal infectious disease (multiple); liver disease (multiple); and lung disease (multiple). Orthologous to human MBL2 (mannose binding lectin 2). [provided by Alliance of Genome Resources, Apr 2025] | 19 | 30210306 | 30217087 | Mouse | 413 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1318928 | Large1 | LARGE xylosyl- and glucuronyltransferase 1 | Enables glucuronosyltransferase activity and xylosyltransferase activity. Involved in several processes, including muscle cell cellular homeostasis; protein O-linked mannosylation; and skeletal muscle tissue regeneration. Acts upstream of or within several processes, including nervous system develop ment; protein modification process; and striated muscle cell differentiation. Located in Golgi membrane. Part of protein-containing complex. Is active in Golgi apparatus; neuromuscular junction; and plasma membrane. Is expressed in central nervous system; dorsal root ganglion; and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; and muscular dystrophy-dystroglycanopathy type B6. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1). [provided by Alliance of Genome Resources, Apr 2025] | 8 | 73541227 | 74080164 | Mouse | 342 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |