National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Dystrophin
Synonyms

DMD

Dystrophin

Definitions

Dystrophin (3685 aa, ~427 kDa) is encoded by the human DMD gene. This protein is involved in anchoring the cytoskeleton to the plasma membrane in muscle cells.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75325

code

C75325

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

Contributing_Source

CTRP

DEFINITION

Dystrophin (3685 aa, ~427 kDa) is encoded by the human DMD gene. This protein is involved in anchoring the cytoskeleton to the plasma membrane in muscle cells.

DesignNote

Dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. (Entrez Gene)

Display_Name

Dystrophin

FULL_SYN

DMD

Dystrophin

label

Dystrophin

Legacy Concept Name

Dystrophin

OMIM_Number

300377

Preferred_Name

Dystrophin

prefixIRI

Thesaurus:C75325

Semantic_Type

Amino Acid, Peptide, or Protein

Swiss_Prot

P11532

UMLS_CUI

C0079259

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16492

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/OMIT_0016735 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00022558 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C75325 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D016189 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079259 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.543.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/4001-0044 CRISP LOOM
http://purl.obolibrary.org/obo/IMR_0000204 HOIP LOOM
http://purl.obolibrary.org/obo/IMR_0000204 TXPO LOOM
http://purl.org/obo/owlapi/fma#FMA_62357 BIOMODELS LOOM
http://localhost/plosthes.2017-1#5058 PLOSTHES LOOM
http://purl.jp/bio/4/id/200906091977832006 IOBC LOOM
http://id.nlm.nih.gov/mesh/D016189 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016189 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15136 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/300377 OMIM LOOM
http://purl.obolibrary.org/obo/PR_000006537 PR LOOM
http://purl.obolibrary.org/obo/PR_000006537 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000006537 EFO LOOM
http://purl.obolibrary.org/obo/PR_000006537 NIFSTD LOOM
http://purl.obolibrary.org/obo/PR_000006537 OBA LOOM
http://purl.obolibrary.org/obo/MESH_D016189 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.210.500.250 RH-MESH LOOM
http://purl.org/sig/ont/fma/fma62357 FMA LOOM
http://www.orpha.net/ORDO/Orphanet_121117 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.220.250 RH-MESH LOOM