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FASTKD2 FAST kinase domains 2 [ Homo sapiens (human) ]

Gene ID: 22868, updated on 2-Nov-2024

Summary

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Official Symbol
FASTKD2provided by HGNC
Official Full Name
FAST kinase domains 2provided by HGNC
Primary source
HGNC:HGNC:29160
See related
Ensembl:ENSG00000118246 MIM:612322; AllianceGenome:HGNC:29160
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COXPD44; KIAA0971
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]
Expression
Ubiquitous expression in thyroid (RPKM 5.2), heart (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

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See FASTKD2 in Genome Data Viewer
Location:
2q33.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206765606..206796189)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (207247719..207278310)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (207630330..207660913)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dystrotelin Neighboring gene VPS26C pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:207634423-207635622 Neighboring gene malate dehydrogenase 1B Neighboring gene microRNA 3130-1 Neighboring gene microRNA 3130-2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:207671457-207672284 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:207676275-207676890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:207676891-207677508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12270 Neighboring gene carboxypeptidase O Neighboring gene Sharpr-MPRA regulatory region 8398 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:207901421-207902246 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:207902247-207903074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17029 Neighboring gene KLF transcription factor 7 Neighboring gene microRNA 2355

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma. Fang R, et al. J Cell Biochem, 2020 Mar. PMID 31692063
  2. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Ghezzi D, et al. Am J Hum Genet, 2008 Sep. PMID 18771761, Free PMC Article
  3. A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome. Wu T, et al. J Hum Genet, 2022 Oct. PMID 35729327
  4. Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain. Das S, et al. BMC Cancer, 2014 Nov 20. PMID 25409762, Free PMC Article
  5. FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation. Popow J, et al. RNA, 2015 Nov. PMID 26370583, Free PMC Article

See all (69) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome.
    Title: A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome.
  2. Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
    Title: Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
  3. FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma.
    Title: FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma.
  4. Despite the fact that proteins of the FASTK family FASTKD1-5 share the same domains, they exhibit various-sometimes opposing-functions in almost all steps of mitochondrial RNA metabolism.
    Title: The FASTK family of proteins: emerging regulators of mitochondrial RNA biology.
  5. Authors discovered a novel association of a polymorphism in the pro-apoptotic gene FASTKD2 (fas-activated serine/threonine kinase domains 2) with better memory performance
    Title: FASTKD2 is associated with memory and hippocampal structure in older adults.
  6. CRISPR-mediated deletion of FASTKD2 leads to aberrant processing.
    Title: FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation.
  7. Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain.
    Title: Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain.
  8. regulation of FASTKD2 by NRIF3 and the DIF-1 complex acts as a novel death switch that selectively modulates apoptosis in breast cancer
    Title: A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  10. mutation in a gene segregating with a peculiar mitochondrial encephalomyopathy associated with COX deficiency in skeletal muscle. FASTKD2 is localized in the mitochondrial inner compartment.
    Title: FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 44
MedGen: C5394293 OMIM: 618855 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
EBI GWAS Catalog
FASTKD2 is associated with memory and hippocampal structure in older adults.
EBI GWAS Catalog
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables rRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial RNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial large ribosomal subunit assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitochondrial mRNA stability IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
FAST kinase domain-containing protein 2, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008984.1 RefSeqGene

    Range
    5219..35802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136193.2 → NP_001129665.1  FAST kinase domain-containing protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_001129665.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC008269, BC001544, DA021045
    Consensus CDS
    CCDS2371.1
    UniProtKB/Swiss-Prot
    Q9NVX6, Q9NYY8, Q9Y2H7
    UniProtKB/TrEMBL
    B3KMB8
    Related
    ENSP00000385990.3, ENST00000402774.8
    Conserved Domains (3) summary
    smart00952
    Location:636 → 692
    RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
    pfam06743
    Location:457 → 527
    FAST_1; FAST kinase-like protein, subdomain 1
    pfam08368
    Location:572 → 618
    FAST_2; FAST kinase-like protein, subdomain 2

  2. NM_001136194.2 → NP_001129666.1  FAST kinase domain-containing protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_001129666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AC008269, BC001544, DA756417
    Consensus CDS
    CCDS2371.1
    UniProtKB/Swiss-Prot
    Q9NVX6, Q9NYY8, Q9Y2H7
    UniProtKB/TrEMBL
    B3KMB8
    Related
    ENSP00000384929.3, ENST00000403094.3
    Conserved Domains (3) summary
    smart00952
    Location:636 → 692
    RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
    pfam06743
    Location:457 → 527
    FAST_1; FAST kinase-like protein, subdomain 1
    pfam08368
    Location:572 → 618
    FAST_2; FAST kinase-like protein, subdomain 2

  3. NM_014929.4 → NP_055744.2  FAST kinase domain-containing protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_055744.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC008269, BC001544, DA475994
    Consensus CDS
    CCDS2371.1
    UniProtKB/Swiss-Prot
    Q9NVX6, Q9NYY8, Q9Y2H7
    UniProtKB/TrEMBL
    B3KMB8
    Related
    ENSP00000236980.6, ENST00000236980.10
    Conserved Domains (3) summary
    smart00952
    Location:636 → 692
    RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
    pfam06743
    Location:457 → 527
    FAST_1; FAST kinase-like protein, subdomain 1
    pfam08368
    Location:572 → 618
    FAST_2; FAST kinase-like protein, subdomain 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    206765606..206796189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    207247719..207278310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYY8.1 GenPept UniProtKB/Swiss-Prot:Q9NYY8

Gene LinkOut

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