2. Gene
  3. SPEG - striated muscle enriched protein kinase Gene

SPEG - striated muscle enriched protein kinase Gene

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

中文名称：横纹肌富集蛋白激酶

种属: Homo sapiens

同用名: BPEG; CNM5; APEG1; MYLK6; APEG-1; SPEGbeta; SPEGalpha

基因 ID: 10290 | 基因类型: protein coding

关于 SPEG

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,434,843-219,493,629 (from NCBI)

This gene has 22 transcripts (splice variants), 127 orthologues, 9 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 4.8), prostate (RPKM 4.5) and 17 other tissues.

功能概要

该基因编码一种与肌球蛋白轻链激酶家族成员相似的蛋白质。该蛋白质家族是肌细胞细胞骨架发育所必需的。与结蛋白基因一起，该基因的表达可由结蛋白基因座控制区控制。该基因的突变与中央核肌病 5 有关。[RefSeq 提供，2016 年 6 月]

This gene encodes a protein with similarity to members of the Myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]

SPEG 基因产物(2)

mRNA Protein Name
NM_001173476.2 NP_001166947.1 striated muscle preferentially expressed protein kinase isoform 4
NM_005876.5 NP_005867.3 striated muscle preferentially expressed protein kinase isoform 1

SPEG 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (43 - 125)

I-set

I-set: Immunoglobulin I-set domain (722 - 811)

I-set

I-set: Immunoglobulin I-set domain (869 - 959)

I-set

I-set: Immunoglobulin I-set domain (972 - 1058)

I-set

I-set: Immunoglobulin I-set domain (1064 - 1153)

I-set

I-set: Immunoglobulin I-set domain (1188 - 1277)

I-set

I-set: Immunoglobulin I-set domain (1391 - 1480)

I-set

I-set: Immunoglobulin I-set domain (1485 - 1574)

Pkinase

Pkinase: Protein kinase domain (1601 - 1854)

I-set

I-set: Immunoglobulin I-set domain (2584 - 2674)

Pkinase

Pkinase: Protein kinase domain (2966 - 3218)

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  • 3267 a.a.
蛋白主名 其他名称

striated muscle preferentially expressed protein kinase

SPEG complex locus

重组 SPEG 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76729 APEG1 Protein, Human (His) Q15772-4 (M1-E113) ≥95%

关联疾病

疾病名称 别名
Myopathy, Centronuclear, 5

CNM5

Centronuclear Myopathy 5

Myopathy, Centronuclear, Type 5
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2
Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy
Scarlet Fever

Scarlatina

Scarlatina Nos
Myopathy

Muscular Diseases

Myopathies
Necrotizing Fasciitis

Fasciitis, Necrotizing
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID
Robinow Syndrome, Autosomal Dominant 2

Autosomal Dominant Robinow Syndrome 2

DRS2

Robinow, Autosomal Dominant Syndrome, Type 2
Pharyngitis

Acute Pharyngitis

Chronic Pharyngitis

Acute Sore Throat

Chronic Sore Throat

Persistent Sore Throat

Pharyngeal Diseases

Chronic Pharyn/Nasopharyngitis

Chronic Pharyngitis And Nasopharyngitis

Inflamed Throat

Pharyngeal Disease

Pharyngeal Disorder

Pharyngitis - Acute

Sore Throat - Chronic

Acute Pharyngitis Nos

Acute Sore Throat Nos

Acute Throat Inflammation

Infective Pharyngitis

Infection Of Pharynx

Acute Infective Pharyngitis

Acute Infective Pharyngitis Nos

Acute Pharyngeal Inflammation

Inflammation Of The Throat

Throat Inflammation

Throat Infection

Putrid Pharyngitis

Pharyngeal Inflammation

Pharyngitis Nos

Chronic Throat Pain

Throat Catarrh
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Commensal Bacterial Infectious Disease
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 (11)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-140590 Azido-PEG3-S-PEG3-azide / 否
HY-140591 Azido-PEG3-S-PEG4-propargyl / 否
HY-140592 Azido-PEG3-S-PEG4-t-butyl ester / 否
HY-140594 m-PEG3-S-PEG4-propargyl / 否
HY-140595 m-PEG3-S-PEG1-C2-Boc / 否
HY-140596 m-PEG3-S-PEG3-Boc / 否
HY-140597 Propargyl-PEG4-S-PEG4-acid / 否
HY-140598 Propargyl-PEG4-S-PEG4-propargyl / 否
HY-140599 Propargyl-PEG4-S-PEG4-Boc / 否
HY-RS13658 SPEG Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-W099540 OES2-0017 / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SPEG VGNC VGNC:99406
Bos taurus SPEG VGNC VGNC:52830
Canis familiaris SPEG VGNC VGNC:49703
Rattus norvegicus SPEG RGD RGD:2124
Mus musculus SPEG MGD MGI:109282
Felis catus SPEG VGNC VGNC:80366
Others SPEG NCBI
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