Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22868
Gene name Gene Name - the full gene name approved by the HGNC.
FAST kinase domains 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FASTKD2
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD44, KIAA0971
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD44
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.3
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 32814053
GO:0005739 Component Mitochondrion IDA 20869947
GO:0005743 Component Mitochondrial inner membrane IDA 18771761
GO:0019843 Function RRNA binding IDA 25683715
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612322 29160 ENSG00000118246
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Fanconi syndrome Adult Fanconi syndrome rs398124646
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Cytochrome-c oxidase deficiency Cytochrome-c Oxidase Deficiency 28499982, 27604308 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 44 GenCC
Mitochondrial Diseases mitochondrial disease GenCC
Associations from Text Mining
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