Gene Information |
Gene ID: | | 1756 |
Symbol: | | DMD |
Full Name: | | dystrophin (muscular dystrophy, Duchenne and Becker types) |
Alias: | | BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272 |
Organism: | | Homo sapiens (Human) |
Chromosome: | | X |
Genetic Location: | | Xp21.2 |
Physical Location: | | 31047265-33267646 on NC_000023.9, complement |
Gene Type: | | protein-coding |
Orthologs: | | This gene has no orthologs in other dataset(s). |
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Gene in Ethanol Study Datasets |
Gene Information | | Dataset Information | Name: | | Literature Search | Method: | | Literature search | Summary: | | We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive. |
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Gene Refseq Sequence Annotation |
mRNA | Protein | Reference assembly Genomic | |
NM_000109.2 | NP_000100.2 | NC_000023.9 range: 31047265..33267646, complement | NM_004006.1 | NP_003997.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004007.1 | NP_003998.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004009.2 | NP_004000.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004010.2 | NP_004001.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004011.2 | NP_004002.2 | NC_000023.9 range: 31047265..33267646, complement | NM_004012.2 | NP_004003.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004013.1 | NP_004004.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004014.1 | NP_004005.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004015.1 | NP_004006.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004016.1 | NP_004007.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004017.1 | NP_004008.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004018.1 | NP_004009.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004019.2 | NP_004010.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004020.1 | NP_004011.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004021.1 | NP_004012.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004022.1 | NP_004013.1 | NC_000023.9 range: 31047265..33267646, complement | NM_004023.1 | NP_004014.1 | NC_000023.9 range: 31047265..33267646, complement |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0016010 | dystrophin-associated glycoprotein complex | Cellular Component | ISS (2261642) | |
GO:0009986 | cell surface | Cellular Component | IDA (10867799) | |
GO:0016010 | dystrophin-associated glycoprotein complex | Cellular Component | NAS | |
GO:0016010 | dystrophin-associated glycoprotein complex | Cellular Component | TAS (8282811) | |
GO:0016020 | membrane | Cellular Component | IEA | |
GO:0043034 | costamere | Cellular Component | IDA (16000376) | |
GO:0005856 | cytoskeleton | Cellular Component | TAS (3282674) | |
GO:0005737 | cytoplasm | Cellular Component | IEA | |
GO:0005515 | protein binding | Molecular Function | IPI (16000376) | |
GO:0003779 | actin binding | Molecular Function | ISS (2261642) | |
GO:0008307 | structural constituent of muscle | Molecular Function | TAS (3287171) | |
GO:0008307 | structural constituent of muscle | Molecular Function | IDA (16000376) | |
GO:0008270 | zinc ion binding | Molecular Function | IEA | |
GO:0003779 | actin binding | Molecular Function | TAS (12376554) | |
GO:0005200 | structural constituent of cytoskeleton | Molecular Function | TAS (3282674) | |
GO:0005509 | calcium ion binding | Molecular Function | IEA | |
GO:0005515 | protein binding | Molecular Function | IEA | |
GO:0003779 | actin binding | Molecular Function | IEA | |
GO:0007517 | muscle development | Biological Process | NAS (1824797) | |
GO:0007016 | cytoskeletal anchoring | Biological Process | NAS | |
GO:0007016 | cytoskeletal anchoring | Biological Process | ISS (2261642) | |
GO:0006936 | muscle contraction | Biological Process | NR | |
GO:0043043 | peptide biosynthetic process | Biological Process | IDA (16000376) | |
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Other Database Cross Links |
NCBI Entrez Gene: | | 1756 |
HGNC: | | 2928 |
Ensembl: | | ENSG00000198947 |
MIM: | | 300377 |
HPRD: | | 02303 |
HuGE Navigator: | | 1756 |
dbSNP: | | DMD |
GeneCard: | | DMD |
AceView: | | DMD |