2. Gene
  3. DYM - dymeclin Gene

DYM - dymeclin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

DYM Protein Structure

Dymeclin

Dymeclin: Dyggve-Melchior-Clausen syndrome protein (1 - 646)

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
Protein Preferred Names Protein Names

dymeclin

dyggve-Melchior-Clausen syndrome protein

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 / Unkown
HY-132583A IONIS-DNM2-2.5Rx sodium Inhibitor / Unkown
HY-RS04080 DYM Human Pre-designed siRNA Set A / 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
Susscrofa domestica DYM NCBI
Others DYM NCBI