1. Gene
  2. DYM - dymeclin Gene

DYM - dymeclin Gene

中文名称:dymeclin

种属: Homo sapiens

同用名: DMC; SMC

基因 ID: 54808 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种蛋白质,该蛋白质调节与高尔基体相关的分泌途径,这些途径对于早期发育过程中的软骨内骨形成至关重要。该基因也被认为在早期大脑发育中发挥作用。该基因在胚胎中广泛表达,在软骨细胞和脑组织中尤为丰富。它编码一种在胞质溶胶和高尔基复合体之间穿梭的外周膜蛋白。该基因的突变与两种类型的隐性骨软骨发育不良有关:Dyggve-Melchior-Clausen (DMC) 发育不良和 Smith-McCort (SMC) 发育不良。[RefSeq 提供,2017 年 6 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
21280149 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21280149 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IMP
IMP: 通过突变表型推断
21280149 GOA
involved in bone development IMP
IMP: 通过突变表型推断
21280149 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
21280149 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
21280149 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DYM 蛋白结构

Dymeclin

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

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
蛋白主名 其他名称

dymeclin

dyggve-Melchior-Clausen syndrome protein

DYM 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DYM Q7RTS9 PPIB Homo sapiens P23284 21280149
种属内
DYM Q7RTS9 PPIB Homo sapiens P23284
Y2H
21280149
种属内
DYM Q7RTS9 PPIB Homo sapiens P23284 21280149
种属内
DYM Q7RTS9 PPIB Homo sapiens P23284 21280149
种属内
DYM Q7RTS9 GOLM1 Homo sapiens Q8NBJ4 21280149
种属内
DYM Q7RTS9 GOLM1 Homo sapiens Q8NBJ4
Y2H
21280149
种属内
DYM Q7RTS9 GOLM1 Homo sapiens Q8NBJ4 21280149
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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