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

    Gene ID: 22868, updated on 23-Nov-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See FASTKD2 in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (206765606..206796189)
    105.20201022 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 malate dehydrogenase 1B Neighboring gene microRNA 3130-1 Neighboring gene microRNA 3130-2 Neighboring gene carboxypeptidase O Neighboring gene Sharpr-MPRA regulatory region 8398 Neighboring gene Kruppel like factor 7 Neighboring gene microRNA 2355

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 44
    MedGen: C5394293 OMIM: 618855 GeneReviews: Not available
    Compare labs
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    GeneReviews: Not available
    FASTKD2 is associated with memory and hippocampal structure in older adults.
    GeneReviews: Not available
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    located_in ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    FAST kinase domain-containing protein 2, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5001..35802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136193.2NP_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
      Q9NYY8
      UniProtKB/TrEMBL
      A0A024R419
      Related
      ENSP00000385990.3, ENST00000402774.8
      Conserved Domains (3) summary
      smart00952
      Location:636692
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:457527
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:572618
      FAST_2; FAST kinase-like protein, subdomain 2
    2. NM_001136194.2NP_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
      Q9NYY8
      UniProtKB/TrEMBL
      A0A024R419
      Related
      ENSP00000384929.3, ENST00000403094.3
      Conserved Domains (3) summary
      smart00952
      Location:636692
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:457527
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:572618
      FAST_2; FAST kinase-like protein, subdomain 2
    3. NM_014929.4NP_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
      Q9NYY8
      UniProtKB/TrEMBL
      A0A024R419
      Related
      ENSP00000236980.6, ENST00000236980.10
      Conserved Domains (3) summary
      smart00952
      Location:636692
      RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
      pfam06743
      Location:457527
      FAST_1; FAST kinase-like protein, subdomain 1
      pfam08368
      Location:572618
      FAST_2; FAST kinase-like protein, subdomain 2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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