COQ8B - coenzyme Q8B Gene

Also Known as ADCK4; NPHS9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79934

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables protein kinase activity	IDA IDA: Inferred from direct assay	27499294	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cerebellar Purkinje cell layer morphogenesis	IMP IMP: Inferred from mutant phenotype	27499294	GOA
NOT involved in protein phosphorylation	IDA IDA: Inferred from direct assay	27499294	GOA
involved in ubiquinone biosynthetic process	IMP IMP: Inferred from mutant phenotype	27499294	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	33988507	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COQ8B Protein Structure

ABC1

0
100
200
300
400
500
544 a.a.

Protein Preferred Names	Protein Names
atypical kinase COQ8B, mitochondrial	aarF domain containing kinase 4

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03045	COQ8B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	COQ8B	NCBI