FASTKD2 - FAST kinase domains 2 Gene

Homo sapiens

Also known as COXPD44; KIAA0971

Gene ID: 22868 | Gene type: protein coding

About FASTKD2

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:206,765,606-206,796,189 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 5.2), heart (RPKM 4.8) and 25 other tissues.

Summary

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial Apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

FASTKD2 Products(3)

mRNA	Protein	Name
NM_001136193.2	NP_001129665.1	FAST kinase domain-containing protein 2, mitochondrial
NM_001136194.2	NP_001129666.1	FAST kinase domain-containing protein 2, mitochondrial
NM_014929.4	NP_055744.2	FAST kinase domain-containing protein 2, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables rRNA binding	IDA IDA: Inferred from direct assay	25683715	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RNA processing	IDA IDA: Inferred from direct assay	26370583	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	18771761	GOA
involved in mitochondrial large ribosomal subunit assembly	IMP IMP: Inferred from mutant phenotype	25683715	GOA
involved in mitochondrial translation	IDA IDA: Inferred from direct assay	26370583	GOA
involved in positive regulation of mitochondrial translation	IMP IMP: Inferred from mutant phenotype	27667664	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	25683715	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	18771761	GOA
located in ribonucleoprotein granule	IDA IDA: Inferred from direct assay	25683715	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

FASTKD2 Protein Structure

FAST_1

FAST_2

RAP

0
200
400
600
710 a.a.

Protein Preferred Names

Protein Names

FAST kinase domain-containing protein 2, mitochondrial

FASTKD2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FASTKD2	Q9NYY8	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
Intra	FASTKD2	Q9NYY8	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
Intra	FASTKD2	Q9NYY8	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
Intra	FASTKD2	Q9NYY8	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
Intra	FASTKD2	Q9NYY8	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
Intra	FASTKD2	Q9NYY8	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
Intra	FASTKD2	Q9NYY8	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 44

COXPD44

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 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

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Spastic Paraplegia 7, Autosomal Recessive

SPG7	Hereditary Spastic Paraplegia 7
Spastic Paraplegia Type 7	Spastic Paraplegia 7
Hereditary Spastic Paraplegia, Paraplegin Type	Autosomal Recessive Spastic Paraplegia 7
Hereditary Spastic Paraplegia Paraplegin Type	Spastic Paraplegia-7
Paraplegia, Spastic, Autosomal Recessive, Type 7	Spastic Paraplegia, Hereditary
Autosomal Recessive Hereditary Spastic Paraplegia

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04758	FASTKD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FASTKD2	MGD	MGI:1922869
Macaca mulatta	FASTKD2	VGNC	VGNC:72594
Felis catus	FASTKD2	VGNC	VGNC:62155
Bos taurus	FASTKD2	VGNC	VGNC:28874
Rattus norvegicus	FASTKD2	RGD	RGD:1307883
Canis familiaris	FASTKD2	VGNC	VGNC:40739

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