DYM - dymeclin Gene

Homo sapiens

Also known as DMC; SMC

Gene ID: 54808 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132583	IONIS-DNM2-2.5Rx	Inhibitor	/	Unkown
HY-132583A	IONIS-DNM2-2.5Rx sodium	Inhibitor	/	Unkown
HY-RS04080	DYM Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	DYM	NCBI	NCBI:102134530
Susscrofa domestica	DYM	NCBI
Others	DYM	NCBI

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