Gene Gene information from NCBI Gene database.
Entrez ID 22868
Gene name FAST kinase domains 2
Gene symbol FASTKD2
Synonyms (NCBI Gene)
COXPD44KIAA0971
Chromosome 2
Chromosome location 2q33.3
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]
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs118203917 C>T Pathogenic Stop gained, coding sequence variant
rs144499152 T>C Likely-pathogenic, benign Missense variant, coding sequence variant
rs748507111 C>G,T Likely-pathogenic Coding sequence variant, missense variant
rs755068980 C>T Pathogenic Stop gained, coding sequence variant
rs778120270 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
557
miRTarBase ID miRNA Experiments Reference
MIRT031546 hsa-miR-16-5p Proteomics 18668040
MIRT989641 hsa-miR-1275 CLIP-seq
MIRT989642 hsa-miR-135a CLIP-seq
MIRT989643 hsa-miR-135b CLIP-seq
MIRT989644 hsa-miR-1827 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000963 Process Mitochondrial RNA processing IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 32814053, 35156780, 36012204
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612322 29160 ENSG00000118246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYY8
Protein name FAST kinase domain-containing protein 2, mitochondrial
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06743 FAST_1 457 527 FAST kinase-like protein, subdomain 1 Family
PF08368 FAST_2 538 619 FAST kinase-like protein, subdomain 2 Family
PF08373 RAP 636 692 RAP domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:20869947}.
Sequence
MLTTLKPFGSVSVESKMNNKAGSFFWNLRQFSTLVSTSRTMRLCCLGLCKPKIVHSNWNI
LNNFHNRMQSTDIIRYLFQDAFIFKSDVGFQTKGISTLTALRIERLLYAKRLFFDSKQSL
VPVDKSDDELKKVNLNHEVSNEDVLTKETKPNRISSRKLSEECNSLSDVLDAFSKAPTFP
SSNYFTAMWTIAKRLSDDQKRFEKRLMFSHPAFNQLCEHMMREAKIMQYKYLLFSLHAIV
KLGIPQNTILVQTLLRVTQERINECDEICLSVLSTVLEAMEPCKNVHVLRTGFRILVDQQ
VWKIEDVFTLQVVMKCIGKDAPIALKRKLEMKALRELDRFSVLNSQHMFEVLAAMNHRSL
ILLDECSKVVLDNIHGCPLRIMINILQSCKDLQYHNLDLFKGLADYVAATFDIWKFRKVL
FILILFENLGFRPVGLMDLFMKRIVEDPESLNMKNILSILHTYSSLNHVYKCQNKEQFVE
VMASALTGYLHTISSENLLDAVYSFCLMNYFPLAPFNQLLQKDIISE
LLTSDDMKNAYKL
HTLDTCLKLDDTVYLRDIALSLPQLPRELPSSHTNAKVAEVLSSLLGGEGHFSKDVHLPH
NYHIDFEIRMDTNRNQVLP
LSDVDTTSATDIQRVAVLCVSRSAYCLGSSHPRGFLAMKMR
HLNAMGFHVILVNNWEMDKLEMEDAVTFLKTK
IYSVEALPVAAVNVQSTQ
Sequence length 710
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
302
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation deficiency 44 Likely pathogenic; Pathogenic rs1690150292, rs118203917, rs994917847, rs767682048, rs751316870, rs774891673, rs1304003703, rs2468839575, rs1064794140, rs755068980, rs1559359546, rs1574663066, rs778120270, rs1574675683, rs758094541
View all (1 more)
RCV001808079
RCV001089468
RCV002243586
RCV002249982
RCV002502069
RCV002302544
RCV003883504
RCV004527223
RCV005018798
RCV005027833
RCV003235383
RCV001090024
RCV001090022
RCV001090023
RCV001090020
RCV001090021
FASTKD2-related disorder Likely pathogenic rs774891673 RCV003418446
Leigh syndrome Pathogenic rs1574663066, rs778120270, rs1574675683 RCV000984084
RCV000984085
RCV000984083
Mitochondrial complex IV deficiency, nuclear type 1 Pathogenic; Likely pathogenic rs118203917, rs755068980, rs1574675756 RCV000000673
RCV000679984
RCV000986989
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs41272661 RCV005895636
Cervical cancer Conflicting classifications of pathogenicity rs142211558 RCV005896066
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs142211558 RCV005896067
Colon adenocarcinoma Conflicting classifications of pathogenicity rs142211558 RCV005896064
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21444724, 25409762
Dementia Associate 25385369
Memory Disorders Associate 25385369
Mitochondrial Encephalomyopathies Associate 26370583
Neoplasms Associate 34768773
Neurodegenerative Diseases Associate 25385369
Schizophrenia Associate 30546022
Spinocerebellar Degenerations Associate 34234304