DYM - dymeclin Gene

Also Known as DMC; SMC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54808

About DYM

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:49,036,387-49,460,645 (from NCBI)

This gene has 20 transcripts (splice variants), 206 orthologues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 6.8), ovary (RPKM 5.4) and 25 other tissues.

Summary

This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]

DYM Products (25)

mRNA	Protein	Name
NM_001353210.3	NP_001340139.1	dymeclin isoform 2
NM_001353211.3	NP_001340140.1	dymeclin isoform 3
NM_001353212.3	NP_001340141.1	dymeclin isoform 4
NM_001353213.3	NP_001340142.1	dymeclin isoform 5
NM_001353214.3	NP_001340143.1	dymeclin isoform 6
NM_001353215.3	NP_001340144.1	dymeclin isoform 7
NM_001353216.3	NP_001340145.1	dymeclin isoform 8
NM_001374428.1	NP_001361357.1	dymeclin isoform 6
NM_001374429.1	NP_001361358.1	dymeclin isoform 9
NM_001374430.1	NP_001361359.1	dymeclin isoform 10
NM_001374431.1	NP_001361360.1	dymeclin isoform 11
NM_001374432.1	NP_001361361.1	dymeclin isoform 12
NM_001374433.1	NP_001361362.1	dymeclin isoform 13
NM_001374434.1	NP_001361363.1	dymeclin isoform 14
NM_001374435.1	NP_001361364.1	dymeclin isoform 15
NM_001374436.1	NP_001361365.1	dymeclin isoform 16
NM_001374437.1	NP_001361366.1	dymeclin isoform 17
NM_001374438.1	NP_001361367.1	dymeclin isoform 18
NM_001374439.1	NP_001361368.1	dymeclin isoform 19
NM_001374440.1	NP_001361369.1	dymeclin isoform 20
NM_001374441.1	NP_001361370.1	dymeclin isoform 21
NM_001374442.1	NP_001361371.1	dymeclin isoform 22
NM_001374443.1	NP_001361372.1	dymeclin isoform 23
NM_001374444.1	NP_001361373.1	dymeclin isoform 24
NM_017653.6	NP_060123.3	dymeclin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	21280149	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21280149	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	21280149	GOA
involved in bone development	IMP IMP: Inferred from mutant phenotype	21280149	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21280149	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21280149	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DYM Protein Structure

Dymeclin

0
200
400
600
669 a.a.

Protein Preferred Names	Protein Names
dymeclin	dyggve-Melchior-Clausen syndrome protein

DYM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DYM	Q7RTS9	PPIB	Homo sapiens	P23284	Anti Tag CoIP	21280149
Intra	DYM	Q7RTS9	PPIB	Homo sapiens	P23284	Y2H	21280149
Intra	DYM	Q7RTS9	PPIB	Homo sapiens	P23284	Confocal	21280149
Intra	DYM	Q7RTS9	PPIB	Homo sapiens	P23284	Pull Down	21280149
Intra	DYM	Q7RTS9	GOLM1	Homo sapiens	Q8NBJ4	Pull Down	21280149
Intra	DYM	Q7RTS9	GOLM1	Homo sapiens	Q8NBJ4	Y2H	21280149
Intra	DYM	Q7RTS9	GOLM1	Homo sapiens	Q8NBJ4	Anti Tag CoIP	21280149

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Dyggve-Melchior-Clausen Disease	Dyggve-Melchior-Clausen Syndrome DMC Dmc Disease Pseudo-Morquio Disease Type I Dmc Syndrome
Smith-Mccort Dysplasia 1	Smith-Mccort Dysplasia SMC1 Smc Smith Mccort Dysplasia Smith-Mccort Dwarfism
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Spondyloepiphyseal Dysplasia, Maroteaux Type	Spondyloepiphyseal Dysplasia Maroteaux Type Pseudo-Morquio Syndrome Type 2 Sed, Maroteaux Type Brachyolmia Type 2 Pseudo-Morquio Syndrome, Type 2 Spondyloepiphyseal Dysplasia Of Maroteaux Brachyolmia Maroteaux Type SEDM Sed Maroteaux Type Dysplasia, Spondyloepiphyseal, Maroteaux Type
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Tarda SEDT Sed Tarda, X-Linked Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasia Tarda X-Linked Sed X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Sed Tarda X-Linked Sed X-Linked Sedt Dysplasia, Spondyloepiphyseal, Tarda Spondyloepiphyseal Dysplasia
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Sponastrime Dysplasia Spondylar And Nasal Alterations With Striated Metaphyses SEMDSP Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Alterations-Striated Metaphyses Syndrome Spondyloepimetaphyseal Dysplasia Sponastrime Type Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Nevo Syndrome Eds Vi Ehlers-Danlos Syndrome, Type Vi Eds Via Ehlers-Danlos Syndrome Type 6 EDSKSCL1 Eds6 Ehlers-Danlos Syndrome Kyphoscoliotic Type 1 Kyphoscoliotic Ehlers-Danlos Syndrome Cutis Hyperelastica Ehlers-Danlos Syndrome Type 6a Ehlers-Danlos Syndrome Oculoscoliotic Type Kyphoscoliotic Eds Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency Lysyl Hydroxylase-Deficient Eds Ocular-Scoliotic Eds Keds Keds-Plod1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1 Ehlers-Danlos Syndrome, Ocular-Scoliotic Type Ehlers-Danlos Syndrome, Type Via, Formerly Eds6a, Formerly Eds 6 Eds, Kyphoscoliotic Type Eds, Oculoscoliotic Type Ehlers-Danlos Syndrome, Kyphoscoliosis Type Ehlers-Danlos Syndrome, Kyphoscoliotic Type Ehlers-Danlos Syndrome, Oculoscoliotic Type Eds6a Ehlers-Danlos Syndrome 6 Ehlers-Danlos Syndrome Kyphoscoliotic Type
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132583A	IONIS-DNM2-2.5Rx sodium		97.46%	Unkown
HY-132583	IONIS-DNM2-2.5Rx		/	Unkown
HY-RS04080	DYM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17440	Dym Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23896	Dym Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DYM	VGNC	VGNC:71879
Rattus norvegicus	DYM	RGD	RGD:1309111
Felis catus	DYM	VGNC	VGNC:61675
Bos taurus	DYM	VGNC	VGNC:28269
Canis familiaris	DYM	VGNC	VGNC:40142
Mus musculus	DYM	MGD	MGI:1918480
Others	DYM	NCBI