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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

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).

Additional gene information for FASTKD2 Gene

No data available for CIViC summary , 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
GH02H207309 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +545.8 545765 3 PKNOX1 ATF1 FOS ATF7 RUNX3 PPARG ZNF518A ZNF592 MEF2D STAT3 FASTKD2 CREB1 CCNYL1 GC02P207336 GC02M207267
GH02H207526 1.7 FANTOM5 ENCODE dbSUPER 10.2 +765.8 765791 8.9 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 METTL21A CREB1 ENSG00000224342 LOC100533727 LOC100288663 ENSG00000231653 ENSG00000231896 KLF7-IT1 FASTKD2 CRYGC
GH02H206764 1.1 ENCODE 7.8 +0.2 245 2.4 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS MXD4 MDH1B FASTKD2 MIR3130-2
GH02H207075 1.5 dbSUPER 5.2 +313.0 313026 6.2 ZFHX2 POLR2A MNT EGR2 KLF7 MIR2355 FASTKD2 PIR40017
GH02H206700 0.4 Ensembl 11.4 -65.2 -65157 0.4 EGR2 MDH1B FASTKD2 ENSG00000207319 LOC100420893
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000129350 343 1801 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS MXD4

Genomic Locations for FASTKD2 Gene

Genomic Locations for FASTKD2 Gene
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

Gene 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



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

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).

Phenotypes From GWAS Catalog for FASTKD2 Gene

Gene Ontology (GO) - Molecular Function for FASTKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004672 protein kinase activity IEA --
GO:0019843 rRNA binding IDA,IEA 25683715
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

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FASTKD2 gene
Compartment Confidence
mitochondrion 5
extracellular 4
nucleus 4
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FASTKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IEA,IDA 20869947
GO:0035770 ribonucleoprotein granule IDA 25683715
GO:0042645 mitochondrial nucleoid IEA,IDA 25683715
GO:0045171 intercellular bridge IDA --
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

Drugs & Compounds for FASTKD2 Gene

No Compound Related Data Available

Transcripts for FASTKD2 Gene

Clone 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 CGAP 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for FASTKD2 Gene

  • Nervous system(4.8)
  • Adrenal gland(4.2)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FASTKD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
  • kidney
  • liver
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FASTKD2: view

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 33 34
  • 99.71 (n)
(Bos Taurus)
Mammalia FASTKD2 33 34
  • 81.4 (n)
(Canis familiaris)
Mammalia FASTKD2 33 34
  • 80.19 (n)
(Mus musculus)
Mammalia Fastkd2 33 16 34
  • 77.94 (n)
(Rattus norvegicus)
Mammalia Fastkd2 33
  • 77.23 (n)
(Monodelphis domestica)
Mammalia FASTKD2 34
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia FASTKD2 34
  • 50 (a)
(Gallus gallus)
Aves FASTKD2 33 34
  • 58.24 (n)
(Anolis carolinensis)
Reptilia FASTKD2 34
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fastkd2 33
  • 52 (n)
(Danio rerio)
Actinopterygii fastkd2 33 34
  • 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
rs1001805 Likely benign 206,794,807(+) TTCCA(A/G)TTTAT intron-variant, utr-variant-3-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

(4) MalaCards diseases for FASTKD2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- 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 EA (Cell reports 2015) 3 4 60
  2. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka DC … Mohlke KL (Obesity (Silver Spring, Md.) 2011) 3 45 60
  3. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. (PMID: 20869947) Simarro M … Anderson P (Biochemical and biophysical research communications 2010) 3 4 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60

Products for FASTKD2 Gene

Sources for FASTKD2 Gene

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