TIMM22

Protein identityUniProt · HPA

UniProt accession

Q9Y584

Gene

TIMM22

Ensembl

ENSG00000177370

Chromosome

17

Canonical length

194 aa

Protein class

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

OverviewNCBI Gene

Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

194 residues, UniProt reviewed canonical sequence.

>Q9Y584|TIMM22
     1  MAAAAPNAGG SAPETAGSAE APLQYSLLLQ YLVGDKRQPR LLEPGSLGGI PSPAKSEEQK
    61  MIEKAMESCA FKAALACVGG FVLGGAFGVF TAGIDTNVGF DPKDPYRTPT AKEVLKDMGQ
   121  RGMSYAKNFA IVGAMFSCTE CLIESYRGTS DWKNSVISGC ITGGAIGFRA GLKAGAIGCG
   181  GFAAFSAAID YYLR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TIMM22 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

Other membrane

Secreted

No

Transmembrane segments

3

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TIMM22.

Disease | AllUniProt

Conditions TIMM22 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 43 (COXPD43) MIM:618851

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 45 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation deficiency 43

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)

1.64

gnomAD pLI

0

gnomAD missense Z

-0.22

DepMap mean gene effect

-0.57

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• protein insertion into mitochondrial inner membrane

Molecular functions

• mitochondrion targeting sequence binding
• protein transmembrane transporter activity
• protein transporter activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• TIM22 mitochondrial import inner membrane insertion complex

Protein domainsUniProt · Pfam · InterPro

• Tim17/Tim22/Tim23/Pmp24 family
• Mitochondrial import inner membrane translocase subunit TIM22

KeywordsUniProt

• Disulfide bond
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Protein transport
• Translocation
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of TIMM22 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TIMM10A
• TIMM9
• TIMM29