| 2551 | Emd | emerin | ENCODES a protein that exhibits actin binding (ortholog); beta-tubulin binding (ortholog); INVOLVED IN nuclear membrane reassembly; amyloid fibril formation (ortholog); cellular response to growth factor stimulus (ortholog); PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; di lated cardiomyopathy pathway; hypertrophic cardiomyopathy pathway; ASSOCIATED WITH cardiomyopathy (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN nuclear envelope; cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; ammonium chloride | X | 157190438 | 157193479 | Rat | 156 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 10519 | Emd | emerin | This gene is the founding member of the LEM (Lap2beta, Emerin, and Man1) domain gene family. It encodes an integral membrane protein of the inner nuclear membrane. This gene may be involved in transcriptional regulation and genomic organization. In humans, mutations in this gene cause a class of dis eases called laminopathies, which includes Emery-Dreifuss muscular dystrophy (EDMD). [provided by RefSeq, Apr 2013] | X | 73298297 | 73305188 | Mouse | 178 | symbol , PhenoGen | gene, protein-coding, REVIEWED [RefSeq] |
| 735605 | EMD | emerin | Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008] | X | 154379295 | 154381523 | Human | 383 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 8706302 | Emd | emerin | ENCODES a protein that exhibits actin binding (ortholog); beta-tubulin binding (ortholog); INVOLVED IN amyloid fibril formation (ortholog); cellular response to growth factor stimulus (ortholog); negative regulation of canonical Wnt signaling pathway (ortholog); ASSOCIATED WITH cardiomyopathy (ortho log); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog) | NW_004955580 | 864532 | 866904 | Chinchilla | 69 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11995328 | EMD | emerin | ENCODES a protein that exhibits actin binding (inferred); beta-tubulin binding (inferred); INVOLVED IN amyloid fibril formation (ortholog); nuclear membrane reassembly (ortholog); skeletal muscle cell differentiation (ortholog); ASSOCIATED WITH cardiomyopathy (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN nuclear envelope (ortholog); nucleus (ortholog); TMEM240-body (ortholog) | X | 143792178 | 143794530 | Bonobo | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12299853 | EMD | emerin | INVOLVED IN amyloid fibril formation (ortholog); cellular response to growth factor stimulus (ortholog); negative regulation of fibroblast proliferation (ortholog); ASSOCIATED WITH cardiomyopathy (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN c ortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog) | X | 122050309 | 122052629 | Dog | 69 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12651373 | Emd | emerin | ENCODES a protein that exhibits actin binding (inferred); beta-tubulin binding (inferred); INVOLVED IN amyloid fibril formation (ortholog); nuclear membrane reassembly (ortholog); skeletal muscle cell differentiation (ortholog); ASSOCIATED WITH cardiomyopathy (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN nuclear envelope (ortholog) | NW_004936809 | 1127701 | 1130195 | Squirrel | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626129095 | Emd | emerin | ENCODES a protein that exhibits actin binding (ortholog); beta-tubulin binding (ortholog); INVOLVED IN amyloid fibril formation (ortholog); cellular response to growth factor stimulus (ortholog); negative regulation of canonical Wnt signaling pathway (ortholog); ASSOCIATED WITH cardiomyopathy (ortho log); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog) | | | | Black Rat | 63 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 329329017 | emd | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 14085354 | EMD | emerin | ENCODES a protein that exhibits actin binding (inferred); beta-tubulin binding (inferred); INVOLVED IN amyloid fibril formation (ortholog); nuclear membrane reassembly (ortholog); skeletal muscle cell differentiation (ortholog); ASSOCIATED WITH cardiomyopathy (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN nuclear envelope (ortholog); nucleus (ortholog); TMEM240-body (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 73 | symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18905779 | Emd | emerin | ENCODES a protein that exhibits actin binding (ortholog); beta-tubulin binding (ortholog); INVOLVED IN amyloid fibril formation (ortholog); cellular response to growth factor stimulus (ortholog); negative regulation of canonical Wnt signaling pathway (ortholog); ASSOCIATED WITH cardiomyopathy (ortho log); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog) | | | | Naked Mole-Rat | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18439543 | EMD | emerin | ENCODES a protein that exhibits actin binding (inferred); beta-tubulin binding (inferred); INVOLVED IN amyloid fibril formation (ortholog); nuclear membrane reassembly (ortholog); skeletal muscle cell differentiation (ortholog); ASSOCIATED WITH cardiomyopathy (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); dilated cardiomyopathy (ortholog); FOUND IN nuclear envelope (ortholog); nucleus (ortholog); TMEM240-body (ortholog) | | | | Green Monkey | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 329329016 | emd.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 285823034 | emd.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 732790 | LMNA | lamin A/C | The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022] | 1 | 156082573 | 156140081 | Human | 4696 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1347348 | ADAM28 | ADAM metallopeptidase domain 28 | This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interact ions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] | 8 | 24294069 | 24359014 | Human | 98 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1550496 | Adam28 | a disintegrin and metallopeptidase domain 28 | This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprote in that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015] | 14 | 68842447 | 68893338 | Mouse | 103 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |