• Gene id: 22868

Gene Summary

• Gene Symbol: FASTKD2   Gene   UCSC   Ensembl
• Aliases: COXPD44, KIAA0971
• Gene name: FAST kinase domains 2
• Alternate names: FAST kinase domain-containing protein 2, mitochondrial,
• Gene location: 2q33.3 (34244723: 34017857)     Exons: 13     NC_000005.10
• Gene summary(Entrez): 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]
• OMIM: 612322

Protein Summary

• Protein general information: Q9NYY8  
  • Name: FAST kinase domain containing protein 2, mitochondrial
  • Length: 710  
  • Mass: 81463
  • 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
• Sequence:

  MLTTLKPFGSVSVESKMNNKAGSFFWNLRQFSTLVSTSRTMRLCCLGLCKPKIVHSNWNILNNFHNRMQSTDIIR
  YLFQDAFIFKSDVGFQTKGISTLTALRIERLLYAKRLFFDSKQSLVPVDKSDDELKKVNLNHEVSNEDVLTKETK
  PNRISSRKLSEECNSLSDVLDAFSKAPTFPSSNYFTAMWTIAKRLSDDQKRFEKRLMFSHPAFNQLCEHMMREAK
  IMQYKYLLFSLHAIVKLGIPQNTILVQTLLRVTQERINECDEICLSVLSTVLEAMEPCKNVHVLRTGFRILVDQQ
  VWKIEDVFTLQVVMKCIGKDAPIALKRKLEMKALRELDRFSVLNSQHMFEVLAAMNHRSLILLDECSKVVLDNIH
  GCPLRIMINILQSCKDLQYHNLDLFKGLADYVAATFDIWKFRKVLFILILFENLGFRPVGLMDLFMKRIVEDPES
  LNMKNILSILHTYSSLNHVYKCQNKEQFVEVMASALTGYLHTISSENLLDAVYSFCLMNYFPLAPFNQLLQKDII
  SELLTSDDMKNAYKLHTLDTCLKLDDTVYLRDIALSLPQLPRELPSSHTNAKVAEVLSSLLGGEGHFSKDVHLPH
  NYHIDFEIRMDTNRNQVLPLSDVDTTSATDIQRVAVLCVSRSAYCLGSSHPRGFLAMKMRHLNAMGFHVILVNNW
  EMDKLEMEDAVTFLKTKIYSVEALPVAAVNVQSTQ

• Structural information:
  • Protein Domains: (634..69-)
    (/note="RAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00619"-)
  • Interpro: IPR013579  IPR010622  IPR013584  
  • Prosite: PS51286
  • STRING: ENSP00000236980
• Other Databases: GeneCards:  FASTKD2  Malacards:  FASTKD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019843	rRNA binding	IDA	molecular function
GO:0035770	ribonucleoprotein granule	IDA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:1902775	mitochondrial large ribosomal subunit assembly	IMP	biological process
GO:0070131	positive regulation of mitochondrial translation	IMP	biological process
GO:0044528	regulation of mitochondrial mRNA stability	IEA	biological process
GO:0019843	rRNA binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Cytochrome c oxidase	KEGG:H01368
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)