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Aliases for FASTKD2 Gene

Aliases for FASTKD2 Gene

  • FAST Kinase Domains 2 2 3 5
  • KIAA0971 2 3 4
  • FAST Kinase Domain-Containing Protein 2, Mitochondrial 3
  • FAST Kinase Domain-Containing Protein 2 3

External Ids for FASTKD2 Gene

Previous HGNC Symbols for FASTKD2 Gene

  • KIAA0971

Previous GeneCards Identifiers for FASTKD2 Gene

  • GC02P207338
  • GC02P207630
  • GC02P199479

Summaries for FASTKD2 Gene

Entrez Gene Summary for FASTKD2 Gene

  • 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]

GeneCards Summary for FASTKD2 Gene

FASTKD2 (FAST Kinase Domains 2) is a Protein Coding gene. Diseases associated with FASTKD2 include Mitochondrial Complex Iv Deficiency and Fastkd2-Related Infantile Mitochondrial Encephalomyopathy. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity.

UniProtKB/Swiss-Prot for FASTKD2 Gene

  • Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FASTKD2 Gene

Genomics for FASTKD2 Gene

Regulatory Elements for FASTKD2 Gene

Enhancers for FASTKD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F207676 0.6 Ensembl ENCODE 12.7 +911.7 911706 1.5 HDAC1 ATF1 CBX3 TBL1XR1 ARNT CHAMP1 ZNF766 GATA2 FOS CREM CCNYL1 FASTKD2 MIR4775 METTL21A FZD5 LINC01857 GC02M207673 GC02M207681 RNU6-664P
GH02F206700 0.2 Ensembl 11.4 -65.2 -65157 0.4 EGR2 FASTKD2 MDH1B ENSG00000207319 LOC100420893
GH02F205913 0.7 ENCODE 9.9 -850.6 -850583 3.2 ZNF791 ENSG00000225216 NRP2 ENSG00000225610 FASTKD2 RN7SKP178 ENSG00000213739
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FASTKD2 on UCSC Golden Path with GeneCards custom track

Promoters for FASTKD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for FASTKD2 Gene

206,765,357 bp from pter
206,796,189 bp from pter
30,833 bases
Plus strand

Genomic View for FASTKD2 Gene

Genes around FASTKD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FASTKD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FASTKD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FASTKD2 Gene

Proteins for FASTKD2 Gene

  • Protein details for FASTKD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FAST kinase domain-containing protein 2, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q9NVX6
    • Q9Y2H7

    Protein attributes for FASTKD2 Gene

    710 amino acids
    Molecular mass:
    81463 Da
    Quaternary structure:
    • Monomer. Found in a complex with GRSF1, DDX28, DHX30 and FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA).
    • Sequence=BAA76815.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91617.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FASTKD2 Gene


neXtProt entry for FASTKD2 Gene

Post-translational modifications for FASTKD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FASTKD2 Gene

No data available for DME Specific Peptides for FASTKD2 Gene

Domains & Families for FASTKD2 Gene

Protein Domains for FASTKD2 Gene

Suggested Antigen Peptide Sequences for FASTKD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 RAP domain.
  • Belongs to the FAST kinase family.
  • Contains 1 RAP domain.
  • Belongs to the FAST kinase family.
genes like me logo Genes that share domains with FASTKD2: view

No data available for Gene Families for FASTKD2 Gene

Function for FASTKD2 Gene

Molecular function for FASTKD2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715).

Gene Ontology (GO) - Molecular Function for FASTKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0019843 rRNA binding IEA,IDA 25683715
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with FASTKD2: view

Phenotypes for FASTKD2 Gene

genes like me logo Genes that share phenotypes with FASTKD2: view

Human Phenotype Ontology for FASTKD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FASTKD2 Gene

miRTarBase miRNAs that target FASTKD2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FASTKD2 Gene

Localization for FASTKD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FASTKD2 Gene

Mitochondrion matrix, mitochondrion nucleoid. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269 PubMed:25683715}.

Subcellular locations from

Jensen Localization Image for FASTKD2 Gene COMPARTMENTS Subcellular localization image for FASTKD2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FASTKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20869947
GO:0035770 ribonucleoprotein granule IDA 25683715
GO:0042645 mitochondrial nucleoid IEA,IDA 25683715
genes like me logo Genes that share ontologies with FASTKD2: view

Pathways & Interactions for FASTKD2 Gene

SuperPathways for FASTKD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FASTKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0042254 ribosome biogenesis IEA --
GO:0045333 cellular respiration ISS 20869947
GO:1902775 mitochondrial large ribosomal subunit assembly IMP 25683715
genes like me logo Genes that share ontologies with FASTKD2: view

No data available for Pathways by source and SIGNOR curated interactions for FASTKD2 Gene

Transcripts for FASTKD2 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FASTKD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - -
SP5: -
SP7: -
SP8: - - -

Relevant External Links for FASTKD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FASTKD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FASTKD2 Gene

Protein differential expression in normal tissues from HIPED for FASTKD2 Gene

This gene is overexpressed in Bone (23.7) and Lung (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FASTKD2 Gene

Protein tissue co-expression partners for FASTKD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FASTKD2 Gene:


SOURCE GeneReport for Unigene cluster for FASTKD2 Gene:


mRNA Expression by UniProt/SwissProt for FASTKD2 Gene:

Tissue specificity: Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in heart, smooth muscle and thyroid.
genes like me logo Genes that share expression patterns with FASTKD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FASTKD2 Gene

Orthologs for FASTKD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FASTKD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FASTKD2 34 35
  • 99.71 (n)
(Bos Taurus)
Mammalia FASTKD2 34 35
  • 81.4 (n)
(Canis familiaris)
Mammalia FASTKD2 34 35
  • 80.19 (n)
(Mus musculus)
Mammalia Fastkd2 34 16 35
  • 77.94 (n)
(Rattus norvegicus)
Mammalia Fastkd2 34
  • 77.23 (n)
(Monodelphis domestica)
Mammalia FASTKD2 35
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia FASTKD2 35
  • 50 (a)
(Gallus gallus)
Aves FASTKD2 34 35
  • 58.24 (n)
(Anolis carolinensis)
Reptilia FASTKD2 35
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fastkd2 34
  • 52 (n)
(Danio rerio)
Actinopterygii fastkd2 34 35
  • 51.93 (n)
Species where no ortholog for FASTKD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FASTKD2 Gene

Gene Tree for FASTKD2 (if available)
Gene Tree for FASTKD2 (if available)

Paralogs for FASTKD2 Gene

No data available for Paralogs for FASTKD2 Gene

Variants for FASTKD2 Gene

Sequence variations from dbSNP and Humsavar for FASTKD2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs118203917 Pathogenic 206,774,264(+) GCTTT(C/T)GACCT nc-transcript-variant, reference, stop-gained
rs144499152 Likely pathogenic 206,771,211(+) GAAAA(C/T)AGAAG nc-transcript-variant, reference, missense
rs748507111 Likely pathogenic 206,771,265(+) TGCAC(C/G/T)GATTG nc-transcript-variant, reference, missense
rs863223962 Likely pathogenic 206,767,375(+) TCATG(C/T)AGTAT nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs116297724 Likely benign 206,765,747(+) CTGGA(A/G)GTAAG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for FASTKD2 Gene

Variant ID Type Subtype PubMed ID
nsv1011347 CNV gain 25217958

Variation tolerance for FASTKD2 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.98; 74.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FASTKD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FASTKD2 Gene

Disorders for FASTKD2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FASTKD2 Gene - From: OMIM, ClinVar, GeneTests, and Orphanet

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
fastkd2-related infantile mitochondrial encephalomyopathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FASTKD2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FASTKD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FASTKD2 Gene

Publications for FASTKD2 Gene

  1. Mitochondrial RNA granules are centers for posttranscriptional RNA processing and ribosome biogenesis. (PMID: 25683715) Antonicka H. … Shoubridge E.A. (Cell Rep. 2015) 3 4 64
  2. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka D.C. … Mohlke K.L. (Obesity (Silver Spring) 2011) 3 46 64
  3. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. (PMID: 20869947) Simarro M. … Anderson P. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64

Products for FASTKD2 Gene

Sources for FASTKD2 Gene

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