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

    Gene ID: 22868, updated on 5-Mar-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206765606..206796189)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (207247719..207278310)
    105.20220307 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
    • 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. 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
    2. FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma. Fang R, et al. J Cell Biochem, 2020 Mar. PMID 31692063
    3. 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
    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 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

    See all (63) 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
    		Compare labs

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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