1. Gene
  2. COQ8B - coenzyme Q8B Gene

COQ8B - coenzyme Q8B Gene

中文名称:辅酶 Q8B

种属: Homo sapiens

同用名: ADCK4; NPHS9

基因 ID: 79934 | 基因类型: protein coding

关于 COQ8B

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,691,530-40,716,886 (from NCBI)

This gene has 45 transcripts (splice variants), 195 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 8.5), testis (RPKM 8.4) and 25 other tissues.

功能概要

该基因编码的蛋白质具有在蛋白激酶中发现的结构域的两个拷贝。编码的蛋白有一个完整的蛋白激酶催化结构域,和一个截短的结构域,仅包含蛋白激酶结构域的活性位点和结合位点,但不知道该蛋白是否具有任何激酶活性。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 9 月]

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

COQ8B 基因产物(2)

mRNA Protein Name
NM_001142555.3 NP_001136027.1 atypical kinase COQ8B, mitochondrial isoform b
NM_024876.4 NP_079152.3 atypical kinase COQ8B, mitochondrial isoform a
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
NOT enables protein kinase activity IDA
IDA: 通过直接分析推断
27499294 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cerebellar Purkinje cell layer morphogenesis IMP
IMP: 通过突变表型推断
27499294 GOA
NOT involved in protein phosphorylation IDA
IDA: 通过直接分析推断
27499294 GOA
involved in ubiquinone biosynthetic process IMP
IMP: 通过突变表型推断
27499294 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
33988507 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

COQ8B 蛋白结构

ABC1

ABC1: ABC1 family (197 - 312)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 544 a.a.
蛋白主名 其他名称

atypical kinase COQ8B, mitochondrial

aarF domain containing kinase 4

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 9

NPHS9

Nephrotic Syndrome Type 9

Nephrotic Syndrome 9

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Coenzyme Q10 Deficiency, Primary, 6

Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness

COQ10D6

Primary Coenzyme Q10 Deficiency 6

Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss

Srns With Sensorineural Deafness

Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness

Coenzyme Q10 Deficiency, Primary, Type 6

Focal Segmental Glomerulosclerosis 9

FSGS9

Glomerulosclerosis, Focal Segmental, 9

Glomerulosclerosis, Focal Segmental, Type 9

Focal Segmental Glomerulosclerosis 8

FSGS8

Glomerulosclerosis, Focal Segmental, 8

Glomerulosclerosis, Focal Segmental, Type 8

Coenzyme Q10 Deficiency Disease

Coenzyme Q10 Deficiency

Coq10 Deficiency

Primary Coenzyme Q10 Deficiency

Coenzyme Q Deficiency

Coq Deficiency

Primary Coq10 Deficiency

Ubiquinone Deficiency

Coenzyme Q10 Deficiency, Primary

Coq10 Deficiency, Primary

Coenzyme Q10 Deficiency, Primary, 3

COQ10D3

Primary Coenzyme Q10 Deficiency 3

Coenzyme Q10 Deficiency, Primary, Type 3

Coenzyme Q10 Deficiency, Primary, 5

Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome

COQ10D5

Primary Coenzyme Q10 Deficiency 5

Coenzyme Q10 Deficiency, Primary, Type 5

Coenzyme Q10 Deficiency, Primary, 4

Scar9

Spinocerebellar Ataxia, Autosomal Recessive 9

Autosomal Recessive Ataxia Due To Ubiquinone Deficiency

COQ10D4

Arca2

Autosomal Recessive Cerebellar Ataxia Type 2

Primary Coenzyme Q10 Deficiency 4

Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 9

Autosomal Recessive Spinocerebellar Ataxia 9

Spinocerebellar Ataxia Autosomal Recessive 9

Coenzyme Q10 Deficiency, Primary, Type 4

Ataxia, Spinocerebellar, Autosomal Recessive, Type 9

Coenzyme Q10 Deficiency, Primary, 2

Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome

COQ10D2

Primary Coenzyme Q10 Deficiency 2

Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome

Coenzyme Q10 Deficiency, Primary, Type 2

Focal Segmental Glomerulosclerosis 5

FSGS5

Glomerulosclerosis, Focal Segmental, 5

Glomerulosclerosis, Segmental, Focal, Type 5

Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome

Nephrosis, Congenital

Finnish Congenital Nephrotic Syndrome

Nemaline Myopathy 1

Cap Myopathy 1

NEM1

Nemaline Myopathy 1, Autosomal Dominant Or Recessive

Nemaline Myopathy, Type 1

CAPM1

Cap Disease

Cap Myopathy Tpm3-Related

Nemaline Myopathy 1 Autosomal Dominant Or Recessive

Myopathy, Nemaline, Type 1

Cap Myopathy

Orthostatic Proteinuria

Postural Albuminuria

Frasier Syndrome

FS

Oligomeganephronia

Oligomeganephronic Renal Hypoplasia

Oligomeganephronic Hypoplasia Of Kidney

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus COQ8B VGNC VGNC:61099
Macaca mulatta COQ8B VGNC VGNC:71213
Rattus norvegicus COQ8B RGD RGD:1311356
Mus musculus COQ8B MGD MGI:1924139
Bos taurus COQ8B VGNC VGNC:27617
Canis familiaris COQ8B VGNC VGNC:39524