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] See more...

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 4
  • COXPD44 3
  • FASTKD2 5

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 Combined Oxidative Phosphorylation Deficiency 44 and Fastkd2-Related Infantile Mitochondrial Encephalomyopathy. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is FASTKD1.

UniProtKB/Swiss-Prot Summary for FASTKD2 Gene

  • Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FASTKD2 Gene

Genomics for FASTKD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 607.7 +0.4 434 2.8 BRCA1 ARHGAP35 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SOX13 ZNF692 NFRKB MDH1B FASTKD2 MIR3130-2 CPO
GH02J207623 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +860.2 860243 4.4 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 TFE3 SOX13 METTL21A lnc-CREB1-10 lnc-FZD5-3 CREB1 PIKFYVE FASTKD2 CCNYL1 LINC01857
GH02J207526 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +765.8 765791 8.9 ZNF221 SP1 CREB1 PRDM10 REST ZNF629 TFE3 IKZF1 NFKBIZ ZNF692 CREB1 ENSG00000223725 METTL21A KLF7-IT1 FASTKD2 RNU6-664P PPP1R14BP2 ENSG00000200764 PLEKHM3 KR153194-102
GH02J207309 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +546.2 546248 4 ATF7 ZNF629 TFE3 LEF1 JUND PRDM1 ZIC2 POLR2A RXRB PATZ1 FASTKD2 CREB1 CCNYL1 lnc-CREB1-9 MIR1302-4 KLF7 ENSG00000223725
GH02J206788 Promoter 0.3 EPDnew 11.4 +23.5 23529 0.1 CPO lnc-MDH1B-4 lnc-MDH1B-5 FASTKD2 MDH1B DYTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FASTKD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FASTKD2

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

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) (PubMed:25683715). Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA (PubMed:27667664).
    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

InterPro:
Blocks:
  • FAST kinase-like protein, subdomain 2
  • RAP domain
ProtoNet:

Suggested Antigen Peptide Sequences for FASTKD2 Gene

GenScript: Design optimal peptide antigens:
  • FAST kinase domain-containing protein 2 (FAKD2_HUMAN)

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). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).

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 IEA,HDA 22658674
GO:0004672 protein kinase activity IEA --
GO:0019843 rRNA binding IEA,IDA 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

Animal Models for FASTKD2 Gene

MGI Knock Outs for FASTKD2:
  • Fastkd2 Fastkd2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for FASTKD2 Gene

miRTarBase miRNAs that target FASTKD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FASTKD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 0
golgi apparatus 0

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:0005654 nucleoplasm 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

PathCards logo

SuperPathways for FASTKD2 Gene

No Data Available

SIGNOR curated interactions for FASTKD2 Gene

Is inactivated by:

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:0070131 positive regulation of mitochondrial translation IMP 27667664
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 for FASTKD2 Gene

Drugs & Compounds for FASTKD2 Gene

No Compound Related Data Available

Transcripts for FASTKD2 Gene

mRNA/cDNA for FASTKD2 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FASTKD2

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Liver(4.4)
  • Adrenal gland(4.2)
  • Muscle(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 30 31
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FASTKD2 30 31
  • 81.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FASTKD2 30 31
  • 80.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fastkd2 30 17 31
  • 77.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fastkd2 30
  • 77.23 (n)
Oppossum
(Monodelphis domestica)
Mammalia FASTKD2 31
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FASTKD2 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FASTKD2 30 31
  • 58.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FASTKD2 31
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fastkd2 30
  • 52 (n)
Zebrafish
(Danio rerio)
Actinopterygii fastkd2 30 31
  • 51.93 (n)
OneToOne
Species where no ortholog for FASTKD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Paralogs for FASTKD2 Gene

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

Variants for FASTKD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FASTKD2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
669738 Benign: not provided 206,787,058(+) G/A INTRON_VARIANT
671648 Benign: not provided 206,770,870(+) G/T INTRON_VARIANT
671649 Benign: not provided 206,771,057(+) G/A INTRON_VARIANT
671650 Likely Benign: not provided 206,771,826(+) A/G INTRON_VARIANT
671651 Benign: not provided 206,774,170(+) A/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FASTKD2 Gene

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

(7) MalaCards diseases for FASTKD2 Gene - From: 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
Open Targets Platform
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. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. (PMID: 27667664) Arroyo JD … Mootha VK (Cell metabolism 2016) 3 4
  2. Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis. (PMID: 25683715) Antonicka H … Shoubridge EA (Cell reports 2015) 3 4
  3. 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 41
  4. 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
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for FASTKD2 Gene

  • Signalway Proteins for FASTKD2

Sources for FASTKD2 Gene