Version 5.4
Homo sapiens Gene: DYM
Summary
InnateDB Gene IDBG-3212.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DYM
Gene Name dymeclin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000141627
Encoded Proteins
IDBP-3214
dymeclin
IDBP-369159
dymeclin
IDBP-369174
dymeclin
IDBP-726500
IDBP-725820
IDBP-726325
IDBP-726230
IDBP-727024
IDBP-726086
IDBP-727779
IDBP-726178
IDBP-726121
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:49041474-49461347
Strand Reverse strand
Band q21.1
Transcripts
ENST00000269445 ENSP00000269445
ENST00000442713 ENSP00000395942
ENST00000418472 ENSP00000415292
ENST00000583280 ENSP00000462466
ENST00000584983 ENSP00000461989
ENST00000583353 ENSP00000464089
ENST00000578396 ENSP00000463892
ENST00000580615
ENST00000584977
ENST00000582399 ENSP00000462657
ENST00000583270
ENST00000578596
ENST00000577481
ENST00000577734 ENSP00000464163
ENST00000577836
ENST00000581409
ENST00000582095
ENST00000581738 ENSP00000464183
ENST00000583225 ENSP00000464653
ENST00000579058 ENSP00000462954
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0019899 enzyme binding
Biological Process
GO:0007030 Golgi organization
GO:0060348 bone development
Cellular Component
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000035765
View Gene Order
ENSBTAG00000000024
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.162996 Hs.712287
RefSeq NM_017653 XM_006722485 XM_006722486 XM_006722487 XM_006722490 XM_006722492
HUGO
OMIM
CCDS CCDS11937
HPRD 08469
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca