AutismKB 2.0

Annotation Details for DMD


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Basic Information Top
Gene Symbol:DMD ( BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272 )
Gene Full Name: dystrophin
Band: Xp21.2-p21.1
Quick LinksEntrez ID:1756; OMIM: 300377; Uniprot ID:DMD_HUMAN; ENSEMBL ID: ENSG00000198947; HGNC ID: 2928
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005856IEA-cytoskeleton-
GO:0009986IDA-cell surface10867799
GO:0016010IDA-dystrophin-associated glycoprotein complex17993586
GO:0016010NAS-dystrophin-associated glycoprotein complex7592992
GO:0016010TAS-dystrophin-associated glycoprotein complex8282811
GO:0016013TAS-syntrophin complex21164104
GO:0016328TAScolocalizes_withlateral plasma membrane21164104
GO:0030018ISS-Z disc-
GO:0030055ISS-cell-substrate junction-
GO:0030175IDA-filopodium16803572
GO:0031527IDA-filopodium membrane16803572
GO:0042383IDA-sarcolemma7545544
GO:0043034IDA-costamere16000376
GO:0043234IDA-protein complex18468998
GO:0044306ISS-neuron projection terminus-
GO:0045121ISS-membrane raft-
GO:0045202ISS-synapse-
GO:0045211IEA-postsynaptic membrane-
GO ID Evidence Qualifier GO_term References
GO:0002162IPI-dystroglycan binding7592992
GO:0003779IDA-actin binding16803572
GO:0003779TAS-actin binding12376554
GO:0005200TAS-structural constituent of cytoskeleton3282674
GO:0005515IPI-protein binding7844150
GO:0008270IEA-zinc ion binding-
GO:0008307IDA-structural constituent of muscle16000376
GO:0008307TAS-structural constituent of muscle3287171
GO:0017022IDA-myosin binding16803572
GO:0017166IPI-vinculin binding16803572
GO:0050998ISS-nitric-oxide synthase binding7545544
GO ID Evidence Qualifier GO_term References
GO:0002027IMP-regulation of heart rate19027585
GO:0007010IEA-cytoskeleton organization-
GO:0007517NAS-muscle organ development1824797
GO:0010880ISS-regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum20080623
GO:0010881ISS-regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion20080623
GO:0014809ISS-regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion19198614
GO:0014819ISS-regulation of skeletal muscle contraction19198614
GO:0030049TAS-muscle filament sliding-
GO:0033137ISS-negative regulation of peptidyl-serine phosphorylation23263329
GO:0034613IMP-cellular protein localization7545544
GO:0035994ISS-response to muscle stretch-
GO:0043043IDA-peptide biosynthetic process16000376
GO:0043623ISS-cellular protein complex assembly19198614
GO:0046716ISS-muscle cell cellular homeostasis-
GO:0048747ISS-muscle fiber development-
GO:0060048IMP-cardiac muscle contraction19027585
GO:0060314ISS-regulation of ryanodine-sensitive calcium-release channel activity20080623
GO:0086001ISS-cardiac muscle cell action potential20080623
GO:1901385ISS-regulation of voltage-gated calcium channel activity21677768
GO:1902083ISS-negative regulation of peptidyl-cysteine S-nitrosylation19198614
GO:2000651ISS-positive regulation of sodium ion transmembrane transporter activity21677768
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DMDACTA11080961544421 Reconstituted Complex
DMDACTA11065731544421 Reconstituted Complex
DMDDAG110809610932245 Co-crystal Structure
DMDDAG110797510932245 Co-crystal Structure
SNTB1DMD1080967844150 Reconstituted Complex
SNTB1DMD1125247844150 Reconstituted Complex
SNTA1DMD1080967890602 8576247 9412493 Affinity Capture-Western; Protein-peptide; Reconstituted Complex
SNTA1DMD1125237890602 8576247 9412493 Affinity Capture-Western; Protein-peptide; Reconstituted Complex
SNTB2DMD1080968576247 Protein-peptide
SNTB2DMD1125288576247 Protein-peptide
DTNADMD1080969356463 Reconstituted Complex; Two-hybrid
DTNADMD1081709356463 Reconstituted Complex; Two-hybrid
DTNBDMD10809610545507 Affinity Capture-Western
DTNBDMD10817110545507 Affinity Capture-Western
KCNJ12DMD10809615024025 Affinity Capture-MS
KCNJ12DMD10997015024025 Affinity Capture-MS
KCNJ4DMD10809615024025 Affinity Capture-Western
KCNJ4DMD10996315024025 Affinity Capture-Western
MAP3K5DMD10809620936779 Two-hybrid
MAP3K5DMD11038120936779 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:94909
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-010426-1'