2. Gene
  3. CCDC134 - coiled-coil domain containing 134 Gene

CCDC134 - coiled-coil domain containing 134 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含卷曲螺旋结构域 134

种属: Homo sapiens

同用名: OI22

基因 ID: 79879 | 基因类型: protein coding

关于 CCDC134

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,800,679-41,832,164 (from NCBI)

This gene has 2 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 4.9), bone marrow (RPKM 4.2) and 24 other tissues.

功能概要

预计在血管生成和动物器官发育的上游或内部起作用。位于膜内。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to act upstream of or within angiogenesis and animal organ development. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

CCDC134 基因产物(3)

mRNA Protein Name
NM_001304797.2 NP_001291726.1 coiled-coil domain-containing protein 134 isoform 2 precursor
NM_001382346.1 NP_001369275.1 coiled-coil domain-containing protein 134 isoform 1 precursor
NM_024821.5 NP_079097.1 coiled-coil domain-containing protein 134 isoform 1 precursor

CCDC134 蛋白结构

ERK-JNK_inhib

ERK-JNK_inhib: ERK and JNK pathways, inhibitor (32 - 224)

  • 0
  • 100
  • 200
  • 229 a.a.
蛋白主名 其他名称

coiled-coil domain-containing protein 134

重组 CCDC134 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7762 CCDC134 Protein, Human (HEK293, His) Q9H6E4 (T23-L229) ≥95%

关联疾病

疾病名称 别名
Osteogenesis Imperfecta, Type Xxii

OI22

Osteogenesis Imperfecta 22
Osteogenesis Imperfecta, Type Xvii

Osteogenesis Imperfecta Type 17

OI17

Osteogenesis Imperfecta Type Xvii

Osteogenesis Imperfecta 17
Ehlers-Danlos Syndrome, Hypermobility Type

Ehlers-Danlos Syndrome, Type 3

Ehlers-Danlos Syndrome, Type Iii

EDSHMB

Eds Iii

Benign Hypermobility Syndrome

Ehlers-Danlos Syndrome Hypermobility Type

Eds3

Type Iii Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Type 3

Es-D3
Osteogenesis Imperfecta, Type Vii

Osteogenesis Imperfecta Type 7

Osteogenesis Imperfecta Type Vii

OI7

Oi Type Vii

Oi, Type Vii

Osteogenesis Imperfecta, Type Iib, Formerly

Oi2b, Formerly

Oi Type 7

Osteogenesis Imperfecta 7

Oi2b

Oi-Iib

Oi Type Iib

Oi-Vii

Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive

Osteogenesis Imperfecta Type Ii Autosomal Recessive

Osteogenesis Imperfecta Type Iib
Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv
Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02028 CCDC134 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CCDC134 MGD MGI:1923707
Bos taurus CCDC134 VGNC VGNC:26847
Felis catus CCDC134 VGNC VGNC:83516
Macaca mulatta CCDC134 VGNC VGNC:70867
Rattus norvegicus CCDC134 RGD RGD:1559657
Others CCDC134 NCBI
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