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FASTKD2 - FAST kinase domains 2 Gene

Also Known as COXPD44; KIAA0971

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22868

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04758	FASTKD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	FASTKD2	NCBI