FASTKD2

Protein identityUniProt · HPA

UniProt accession

Q9NYY8

Gene

FASTKD2

Ensembl

ENSG00000118246

Chromosome

2

Canonical length

710 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

710 residues, UniProt reviewed canonical sequence.

>Q9NYY8|FASTKD2
     1  MLTTLKPFGS VSVESKMNNK AGSFFWNLRQ FSTLVSTSRT MRLCCLGLCK PKIVHSNWNI
    61  LNNFHNRMQS TDIIRYLFQD AFIFKSDVGF QTKGISTLTA LRIERLLYAK RLFFDSKQSL
   121  VPVDKSDDEL KKVNLNHEVS NEDVLTKETK PNRISSRKLS EECNSLSDVL DAFSKAPTFP
   181  SSNYFTAMWT IAKRLSDDQK RFEKRLMFSH PAFNQLCEHM MREAKIMQYK YLLFSLHAIV
   241  KLGIPQNTIL VQTLLRVTQE RINECDEICL SVLSTVLEAM EPCKNVHVLR TGFRILVDQQ
   301  VWKIEDVFTL QVVMKCIGKD APIALKRKLE MKALRELDRF SVLNSQHMFE VLAAMNHRSL
   361  ILLDECSKVV LDNIHGCPLR IMINILQSCK DLQYHNLDLF KGLADYVAAT FDIWKFRKVL
   421  FILILFENLG FRPVGLMDLF MKRIVEDPES LNMKNILSIL HTYSSLNHVY KCQNKEQFVE
   481  VMASALTGYL HTISSENLLD AVYSFCLMNY FPLAPFNQLL QKDIISELLT SDDMKNAYKL
   541  HTLDTCLKLD DTVYLRDIAL SLPQLPRELP SSHTNAKVAE VLSSLLGGEG HFSKDVHLPH
   601  NYHIDFEIRM DTNRNQVLPL SDVDTTSATD IQRVAVLCVS RSAYCLGSSH PRGFLAMKMR
   661  HLNAMGFHVI LVNNWEMDKL EMEDAVTFLK TKIYSVEALP VAAVNVQSTQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FASTKD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

34 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FASTKD2.

Disease | AllUniProt

Conditions FASTKD2 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 44 (COXPD44) MIM:618855

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 530 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation deficiency 44
• Mitochondrial complex IV deficiency, nuclear type 1
• Leigh syndrome
• FASTKD2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0

gnomAD missense Z

0.67

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• mitochondrial large ribosomal subunit assembly
• mitochondrial RNA processing
• mitochondrial translation
• regulation of mitochondrial mRNA stability
• RNA processing

Molecular functions

• RNA binding
• rRNA binding

Cellular components

• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion
• ribonucleoprotein granule

Protein domainsUniProt · Pfam · InterPro

• FAST kinase leucine-rich
• FAST kinase-like protein, subdomain 2
• RAP domain
• FAST kinase domain-containing
• FAST kinase-like protein, subdomain 1
• FAST kinase-like protein, subdomain 2
• RAP domain

KeywordsUniProt

• Mitochondrion
• Mitochondrion nucleoid
• Phosphoprotein
• Primary mitochondrial disease
• Ribosome biogenesis
• RNA-binding
• rRNA-binding
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of FASTKD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNF157