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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 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy and Mitochondrial Complex Iv Deficiency. Gene Ontology (GO) annotations related to this gene include 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

GeneHancer (GH) Regulatory Elements for FASTKD2 Gene

Promoters and enhancers for FASTKD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J206764 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 657.8 +0.2 244 2.4 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 MDH1B FASTKD2 MIR3130-2
GH02J207526 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 +765.8 765791 8.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 CREB1 ENSG00000223725 METTL21A ENSG00000224342 LOC100533727 LOC100288663 ENSG00000231653 ENSG00000231896 KLF7-IT1 FASTKD2
GH02J207623 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 +860.3 860327 4.2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 METTL21A CREB1 ENSG00000224342 LOC100533727 LOC100288663 ENSG00000231653 ENSG00000231896 PIKFYVE FASTKD2 CRYGC
GH02J207309 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +545.8 545764 3 PKNOX1 ATF1 FOS ATF7 RUNX3 RXRA PPARG ZNF518A ZNF592 MEF2D FASTKD2 CREB1 CCNYL1 GC02P207336 GC02M207267 ENSG00000223725
GH02J206788 Promoter 0.5 EPDnew 11.4 +23.5 23529 0.1 CPO MDH1B FASTKD2 DYTN MIR3130-1 ENSG00000260171
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FASTKD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FASTKD2 gene promoter:
  • POU2F1a
  • POU2F1
  • HFH-1
  • AREB6
  • Ik-1
  • CUTL1
  • C/EBPalpha
  • Cdc5

Genomic Locations for FASTKD2 Gene

Genomic Locations for FASTKD2 Gene
chr2:206,765,357-206,796,189
(GRCh38/hg38)
Size:
30,833 bases
Orientation:
Plus strand
chr2:207,630,081-207,660,913
(GRCh37/hg19)
Size:
30,833 bases
Orientation:
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:
    Q9NYY8-FAKD2_HUMAN
    Recommended name:
    FAST kinase domain-containing protein 2, mitochondrial
    Protein Accession:
    Q9NYY8
    Secondary Accessions:
    • Q9NVX6
    • Q9Y2H7

    Protein attributes for FASTKD2 Gene

    Size:
    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).
    SequenceCaution:
    • Sequence=BAA76815.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91617.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FASTKD2 Gene

    UniProtKB/Swiss-Prot:

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

Q9NYY8

UniProtKB/Swiss-Prot:

FAKD2_HUMAN :
  • Belongs to the FAST kinase family.
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 HDA 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
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

CRISPR 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

COMPARTMENTS
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 IDA,IEA 20869947
GO:0035770 ribonucleoprotein granule IDA 25683715
GO:0042645 mitochondrial nucleoid IDA,IEA 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

mRNA/cDNA for FASTKD2 Gene

Unigene Clusters for FASTKD2 Gene

FAST kinase domains 2:
Representative Sequences:

CRISPR Products

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: -
SP6:
SP7: -
SP8: - - -
SP9:

Relevant External Links for FASTKD2 Gene

GeneLoc Exon Structure for
FASTKD2
ECgene alternative splicing isoforms for
FASTKD2

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, 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:

FASTKD2

SOURCE GeneReport for Unigene cluster for FASTKD2 Gene:

Hs.5930

mRNA Expression by UniProt/SwissProt for FASTKD2 Gene:

Q9NYY8-FAKD2_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia FASTKD2 34 33
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FASTKD2 34 33
  • 81.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FASTKD2 34 33
  • 80.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fastkd2 16 34 33
  • 77.94 (n)
rat
(Rattus norvegicus)
Mammalia Fastkd2 33
  • 77.23 (n)
oppossum
(Monodelphis domestica)
Mammalia FASTKD2 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FASTKD2 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves FASTKD2 34 33
  • 58.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FASTKD2 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fastkd2 33
  • 52 (n)
zebrafish
(Danio rerio)
Actinopterygii fastkd2 34 33
  • 51.93 (n)
OneToOne
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

ENSEMBL:
Gene Tree for FASTKD2 (if available)
TreeFam:
Gene Tree for FASTKD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FASTKD2: view image

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 Variation AA Info Type
rs1001805 likely-benign, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 206,794,807(+) A/G 3_prime_UTR_variant, intron_variant
rs1019162617 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 206,796,162(+) A/G 3_prime_UTR_variant, intron_variant
rs1048783 likely-benign, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 206,792,429(+) T/C 3_prime_UTR_variant, intron_variant
rs10655467 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 206,794,124(+) ACACACACACACACA/ACACACACACA/ACACACACACACA/ACACACACACACACACA/ACACACACACACACACACA 3_prime_UTR_variant, intron_variant
rs111441789 likely-benign, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 206,793,277(+) C/CC 3_prime_UTR_variant, intron_variant

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)

Additional Variant Information for FASTKD2 Gene

Human Gene Mutation Database (HGMD)
FASTKD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FASTKD2

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, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FASTKD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  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 44 58
  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 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for FASTKD2 Gene

Sources for FASTKD2 Gene

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