QuickView for Dystrophin (gene)

Gene Symbol:

Dmd Mus musculus

Full name:

dystrophin, muscular dystrophy

Synonyms:

DXSmh7, DXSmh9, Dp427, Dp71, dys, mdx, pke, dystrophin, X-linked muscular dystrophy, dystrophin Dp71 delta110 isoform, dystrophin Dp71c isoform, dystrophin Dp71d delta71,74 isoform, dystrophin Dp71d delta74 isoform, dystrophin Dp71d(delta71,73-74), dystrophin Dp71f delta74 isoform

Genomic Location:

Chr X: 80194242-82450380

Description:

This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development ...

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This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

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Orthologs:

Homo sapiens ,  Rattus norvegicus ,  Gallus gallus ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AAANWWTGC_UNKNOWN ,  AAAYRNCTG_UNKNOWN ,  AP4_01 ,  AACTTT_UNKNOWN ,  RSRFC4_01 ,  AACWWCAANK_UNKNOWN ,  P300_01 ,  CREBP1_01 ,  E4BP4_01 ,  E2F_02 ,  IRF1_01 ,  TAL1BETAE47_01 ,  TAL1ALPHAE47_01 ,  TAL1BETAITF2_01 ,  E47_02 ,  GATA3_01 ,  EVI1_02 ,  EVI1_03 ,  EVI1_04 ,  EVI1_05 ,  ZID_01 ,  PAX6_01 ,  PAX2_01 ,  S8_01 ,  CDPCR3HD_01 ,  CEBPB_02 ,  PBX1_02 ,  GATA1_02 ,  GATA1_03 ,  GATA1_04 ,  HFH1_01 ,  FOXD3_01 ,  HNF3B_01 ,  HNF1_01 ,  TST1_01 ,  OCT1_01 ,  OCT1_02 ,  OCT1_03 ,  OCT1_04 ,  AHR_01 ,  PAX5_01 ,  BRN2_01 ,  HSF1_01 ,  AGCYRWTTC_UNKNOWN ,  HSF2_01 ,  ARP1_01 ,  RORA2_01 ,  COUP_01 ,  CEBP_01 ,  OCT1_05 ,  AP4_Q5 ,  CREBP1_Q2 ,  SRF_Q6 ,  OCT1_Q6 ,  CEBP_C ,  GATA_C ,  HNF1_C ,  NFY_C ,  OCT_C ,  SRF_C ,  HAND1E47_01 ,  MEF2_02 ,  MEF2_03 ,  NKX25_02 ,  HLF_01 ,  P53_02 ,  MIF1_01 ,  RFX1_01 ,  RFX1_02 ,  TCF11MAFG_01 ,  TCF11_01 ,  HFH3_01 ,  HFH8_01 ,  CCAWNWWNNNGGC_UNKNOWN ,  CCAWYNNGAAR_UNKNOWN ,  OCT1_B ,  PAX4_04 ,  MMEF2_Q6 ,  HMEF2_Q6 ,  RSRFC4_Q2 ,  SOX9_B1 ,  AREB6_02 ,  AREB6_03 ,  AREB6_04 ,  MEIS1BHOXA9_01 ,  FOXJ2_01 ,  FOXJ2_02 ,  E2F_Q3 ,  E2F_Q4 ,  E2F_Q6 ,  E2F1_Q3 ,  E2F1_Q6 ,  TITF1_Q3 ,  IPF1_Q4 ,  CHX10_01 ,  AR_Q2 ,  NKX3A_01 ,  IRF7_01 ,  TBP_01 ,  FOXO4_01 ,  FOXO1_01 ,  CTGCAGY_UNKNOWN ,  NKX22_01 ,  PAX2_02 ,  NKX62_Q2 ,  BACH2_01 ,  STAT1_03 ,  CTGRYYYNATT_UNKNOWN ,  STAT5A_04 ,  LHX3_01 ,  E2F_03 ,  AP1_01 ,  GNCF_01 ,  RP58_01 ,  CTTTAAR_UNKNOWN ,  CEBPDELTA_Q6 ,  CRX_Q4 ,  DBP_Q6 ,  EFC_Q6 ,  FOXM1_01 ,  FXR_Q3 ,  GATA4_Q3 ,  HOXA4_Q2 ,  PTF1BETA_Q6 ,  AP3_Q6 ,  PAX8_01 ,  CACBINDINGPROTEIN_Q6 ,  HNF3ALPHA_Q6 ,  HP1SITEFACTOR_Q6 ,  CDX2_Q5 ,  E2F1DP1_01 ,  E2F1DP2_01 ,  E2F4DP1_01 ,  E2F4DP2_01 ,  E2F1DP1RB_01 ,  HFH4_01 ,  POU1F1_Q6 ,  P53_DECAMER_Q2 ,  DR1_Q3 ,  HNF4_DR1_Q3 ,  COUP_DR1_Q6 ,  FXR_IR1_Q6 ,  CEBP_Q3 ,  MYB_Q3 ,  STAT_Q6 ,  HNF1_Q6 ,  HNF3_Q6 ,  OCT_Q6 ,  E2A_Q2 ,  FOX_Q2 ,  SRF_Q4 ,  NRF2_Q4 ,  CEBP_Q2_01 ,  MYB_Q5_01 ,  E2F_Q3_01 ,  E2F_Q4_01 ,  E2F_Q6_01 ,  AP4_Q6_01 ,  MYOD_Q6_01 ,  OCT1_Q5_01 ,  E2F1_Q3_01 ,  E2F1_Q4_01 ,  MEF2_Q6_01 ,  AR_Q6 ,  PXR_Q2 ,  DR4_Q2 ,  DR3_Q4 ,  CTACCTC_LET7A_LET7B_LET7C_LET7D_LET7E_LET7F_MIR98_LET7G_LET7I ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  CACTTTG_MIR520G_MIR520H ,  CTATGCA_MIR153 ,  TATTATA_MIR374 ,  ATACTGT_MIR144 ,  GTATTAT_MIR3693P ,  KMCATNNWGGA_UNKNOWN ,  ATGTTTC_MIR494 ,  CATGTAA_MIR496 ,  MYAATNNNNNNNGGC_UNKNOWN ,  CTGTTAC_MIR194 ,  ACATATC_MIR190 ,  TGCCTTA_MIR124A ,  RNGTGGGC_UNKNOWN ,  ACTGTAG_MIR139 ,  RRAGTTGT_UNKNOWN ,  TGCAAAC_MIR452 ,  RTTTNNNYTGGM_UNKNOWN ,  SMTTTTGT_UNKNOWN ,  SNACANNNYSYAGA_UNKNOWN ,  TGACATY_UNKNOWN ,  TGCGCANK_UNKNOWN ,  TTANTCA_UNKNOWN ,  WCAANNNYCAG_UNKNOWN ,  WGTTNNNNNAAA_UNKNOWN ,  WTGAAAT_UNKNOWN ,  WTTGKCTG_UNKNOWN ,  YATTNATC_UNKNOWN ,  YCATTAA_UNKNOWN ,  YKACATTT_UNKNOWN ,  YNGTTNNNATT_UNKNOWN ,  YNTTTNNNANGCARM_UNKNOWN ,  YWATTWNNRGCT_UNKNOWN ,  YYCATTCAWW_UNKNOWN ,  TGANTCA_AP1_C ,  CAGCTG_AP4_Q5 ,  CAGGTA_AREB6_01 ,  TAATTA_CHX10_01 ,  CAGGTG_E12_Q6 ,  TTAYRTAA_E4BP4_01 ,  TGACCTY_ERR1_Q2 ,  TTGTTT_FOXO4_01 ,  RTAAACA_FREAC2_01 ,  GATAAGR_GATA_C ,  TGATTTRY_GFI1_01 ,  AAAYWAACM_HFH4_01 ,  RGTTAMWNATT_HNF1_01 ,  TGTTTGY_HNF3_Q6 ,  RGAANNTTC_HSF1_01 ,  CTTTGA_LEF1_Q2 ,  CTTTGT_LEF1_Q2 ,  YTAATTAA_LHX3_01 ,  GGGAGGRR_MAZ_Q6 ,  YTATTTTNR_MEF2_02 ,  TGACAGNY_MEIS1_01 ,  GCANCTGNY_MYOD_Q6 ,  TGCCAAR_NF1_Q6 ,  TGGAAA_NFAT_Q4_01 ,  GGATTA_PITX2_Q2 ,  CTAWWWATA_RSRFC4_Q2 ,  CATTGTYY_SOX9_B1 ,  TATAAA_TATA_01 ,  TGANNYRGCA_TCF11MAFG_01 ,  WGGAATGY_TEF1_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for let-7 ,  Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-129 ,  Predicted Gene Targets for miR-139 ,  Predicted Gene Targets for miR-142-5p ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-190 ,  Predicted Gene Targets for miR-194 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-30 ,  Predicted Gene Targets for miR-320 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-448 ,  Predicted Gene Targets for miR-494 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-124u ,  Predicted Gene Targets for miR-31 ,  Predicted Gene Targets for miR-374 ,  Predicted Gene Targets for miR-421 ,  Predicted Gene Targets for miR-493-5p ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-496

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