Human Gene TIMM22 (uc002fsc.3)
  Description: Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_013337): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:900,357-905,390 Size: 5,034 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr17:900,383-904,328 Size: 3,946 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:900,357-905,390)mRNA (may differ from genome)Protein (194 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TIM22_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial import inner membrane translocase subunit Tim22; AltName: Full=Testis-expressed sequence 4;
FUNCTION: Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity).
SUBUNIT: Component of the TIM22 complex, whose core is composed of TIMM22, associated with peripheral protein FXC1/TIM10B and the 70 kDa heterohexamer. In most cases, the 70 kDa complex is composed of TIMM9 and TIMM10. A small fraction of the 70 kDa complex is composed of TIM8 (TIMM8A/DDP1 or TIMM8B/DDP2) and TIMM13. Interacts directly with TIMM9, TIMM10/TIM10A and FXC1/TIM10B.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the Tim17/Tim22/Tim23 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TIMM22
CDC HuGE Published Literature: TIMM22

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.88 RPKM in Cells - Cultured fibroblasts
Total median expression: 504.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.1026-0.388 Picture PostScript Text
3' UTR -379.101062-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003397 - Tim17/Tim22/Tim23/PMP24

Pfam Domains:
PF02466 - Tim17/Tim22/Tim23/Pmp24 family

ModBase Predicted Comparative 3D Structure on Q9Y584
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008320 protein transmembrane transporter activity
GO:0030943 mitochondrion targeting sequence binding

Biological Process:
GO:0006626 protein targeting to mitochondrion
GO:0015031 protein transport
GO:0045039 protein import into mitochondrial inner membrane

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042721 mitochondrial inner membrane protein insertion complex


-  Descriptions from all associated GenBank mRNAs
  BC002324 - Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast), mRNA (cDNA clone MGC:2678 IMAGE:2819655), complete cds.
AK000830 - Homo sapiens cDNA FLJ20823 fis, clone ADSE00282.
AK225453 - Homo sapiens mRNA for translocase of inner mitochondrial membrane 22 homolog, clone: HSI02307.
AF155330 - Homo sapiens putative membrane protein (TIM22) mRNA, complete cds.
KJ898746 - Synthetic construct Homo sapiens clone ccsbBroadEn_08140 TIMM22 gene, encodes complete protein.
JD535843 - Sequence 516867 from Patent EP1572962.
JD207122 - Sequence 188146 from Patent EP1572962.
JD533448 - Sequence 514472 from Patent EP1572962.
JD343186 - Sequence 324210 from Patent EP1572962.
JD216039 - Sequence 197063 from Patent EP1572962.
JD537182 - Sequence 518206 from Patent EP1572962.
JD194296 - Sequence 175320 from Patent EP1572962.
JD159976 - Sequence 141000 from Patent EP1572962.
JD276511 - Sequence 257535 from Patent EP1572962.
JD201117 - Sequence 182141 from Patent EP1572962.
JD519181 - Sequence 500205 from Patent EP1572962.
JD347485 - Sequence 328509 from Patent EP1572962.
JD468937 - Sequence 449961 from Patent EP1572962.
JD308029 - Sequence 289053 from Patent EP1572962.
JD095558 - Sequence 76582 from Patent EP1572962.
JD314750 - Sequence 295774 from Patent EP1572962.
JD413950 - Sequence 394974 from Patent EP1572962.
JD359909 - Sequence 340933 from Patent EP1572962.
JD492916 - Sequence 473940 from Patent EP1572962.
JD086380 - Sequence 67404 from Patent EP1572962.
JD521233 - Sequence 502257 from Patent EP1572962.
JD250341 - Sequence 231365 from Patent EP1572962.
JD322825 - Sequence 303849 from Patent EP1572962.
JD159363 - Sequence 140387 from Patent EP1572962.
JD199612 - Sequence 180636 from Patent EP1572962.
JD287263 - Sequence 268287 from Patent EP1572962.
JD562743 - Sequence 543767 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y584 (Reactome details) participates in the following event(s):

R-HSA-1955380 TIMM9:TIMM10 transfers proteins to TIMM22
R-HSA-1307803 TIMM22 inserts proteins into inner membrane
R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space
R-HSA-1299481 TIMM9:TIMM10 binds hydrophobic proteins
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_013337, NP_037469, Q9NWI8, Q9Y584, TEX4, TIM22, TIM22_HUMAN
UCSC ID: uc002fsc.3
RefSeq Accession: NM_013337
Protein: Q9Y584 (aka TIM22_HUMAN)
CCDS: CCDS32521.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_013337.2
exon count: 4CDS single in 3' UTR: no RNA size: 1691
ORF size: 585CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1132.00frame shift in genome: no % Coverage: 98.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.