QuickView for DXS230 (gene)

Gene Symbol:

DMD Homo sapiens

Full name:

dystrophin

Synonyms:

BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin

Genomic Location:

Chr X: 31047266-33267647

Description:

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutati...

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This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Gallus gallus ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

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

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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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Cytogenetic Map:

Xp21.2-p21.1

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