Human Gene MIEF2 (ENST00000323019.9_7) from GENCODE V47lift37
  Description: mitochondrial elongation factor 2, transcript variant 1 (from RefSeq NM_139162.4)
Gencode Transcript: ENST00000323019.9_7
Gencode Gene: ENSG00000177427.13_11
Transcript (Including UTRs)
   Position: hg19 chr17:18,163,976-18,169,866 Size: 5,891 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr17:18,166,035-18,168,078 Size: 2,044 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:18,163,976-18,169,866)mRNA (may differ from genome)Protein (454 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MID49_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial dynamic protein MID49; AltName: Full=Mitochondrial dynamic protein of 49 kDa; AltName: Full=Smith-Magenis syndrome chromosomal region candidate gene 7 protein;
FUNCTION: Mitochondrial outer membrane protein which regulates mitochondrial morphology. Mitochondrial morphology is controlled by two opposites processes: fusion and fission. Can directly recruit the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface.
SUBUNIT: Interacts with DNM1L.
INTERACTION: Q9UI14:RABAC1; NbExp=3; IntAct=EBI-750153, EBI-712367;
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass membrane protein. Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.
TISSUE SPECIFICITY: Expressed in all tissues tested with highest expression in heart and skeletal muscle.
SIMILARITY: Belongs to the MID49/MID51 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


-  MalaCards Disease Associations
  MalaCards Gene Search: MIEF2
Diseases sorted by gene-association score: smith-magenis syndrome (8)

+  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: 6.74 RPKM in Pituitary
Total median expression: 198.65 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 -31.8083-0.383 Picture PostScript Text
3' UTR -704.001788-0.394 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
IPR024810 - Mab-21_dom

Pfam Domains:
PF03281 - Mab-21 protein

ModBase Predicted Comparative 3D Structure on Q96C03
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007005 mitochondrion organization
GO:0032464 positive regulation of protein homooligomerization
GO:0090141 positive regulation of mitochondrial fission
GO:0090314 positive regulation of protein targeting to membrane
GO:0008053 mitochondrial fusion

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0005777 peroxisome


-  Descriptions from all associated GenBank mRNAs
  AK056165 - Homo sapiens cDNA FLJ31603 fis, clone NT2RI2002654.
LF209095 - JP 2014500723-A/16598: Polycomb-Associated Non-Coding RNAs.
AK128310 - Homo sapiens cDNA FLJ46451 fis, clone THYMU3019476.
JD357945 - Sequence 338969 from Patent EP1572962.
AF467443 - Homo sapiens Smith-Magenis syndrome chromosome region candidate 7 protein (SMCR7) mRNA, complete cds.
BC014973 - Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7, mRNA (cDNA clone MGC:23130 IMAGE:4859126), complete cds.
JD096611 - Sequence 77635 from Patent EP1572962.
JD103215 - Sequence 84239 from Patent EP1572962.
CU677149 - Synthetic construct Homo sapiens gateway clone IMAGE:100019480 5' read SMCR7 mRNA.
JF432161 - Synthetic construct Homo sapiens clone IMAGE:100073309 Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7) gene, encodes complete protein.
KJ900096 - Synthetic construct Homo sapiens clone ccsbBroadEn_09490 SMCR7 gene, encodes complete protein.
JD465121 - Sequence 446145 from Patent EP1572962.
JD417945 - Sequence 398969 from Patent EP1572962.
JD409234 - Sequence 390258 from Patent EP1572962.
JD466520 - Sequence 447544 from Patent EP1572962.
JD484028 - Sequence 465052 from Patent EP1572962.
JD208038 - Sequence 189062 from Patent EP1572962.
JD530744 - Sequence 511768 from Patent EP1572962.
JD243717 - Sequence 224741 from Patent EP1572962.
BC035292 - Homo sapiens, clone IMAGE:5180214, mRNA.
JD490506 - Sequence 471530 from Patent EP1572962.
JD417885 - Sequence 398909 from Patent EP1572962.
JD428823 - Sequence 409847 from Patent EP1572962.
JD306512 - Sequence 287536 from Patent EP1572962.
JD201818 - Sequence 182842 from Patent EP1572962.
JD198762 - Sequence 179786 from Patent EP1572962.
JD493497 - Sequence 474521 from Patent EP1572962.
JD172105 - Sequence 153129 from Patent EP1572962.
JD386080 - Sequence 367104 from Patent EP1572962.
JD255688 - Sequence 236712 from Patent EP1572962.
JD170363 - Sequence 151387 from Patent EP1572962.
JD287249 - Sequence 268273 from Patent EP1572962.
JD161266 - Sequence 142290 from Patent EP1572962.
JD123943 - Sequence 104967 from Patent EP1572962.
JD359404 - Sequence 340428 from Patent EP1572962.
JD494482 - Sequence 475506 from Patent EP1572962.
JD072475 - Sequence 53499 from Patent EP1572962.
JD540342 - Sequence 521366 from Patent EP1572962.
LF326102 - JP 2014500723-A/133605: Polycomb-Associated Non-Coding RNAs.
JD466983 - Sequence 448007 from Patent EP1572962.
JD340306 - Sequence 321330 from Patent EP1572962.
JD357829 - Sequence 338853 from Patent EP1572962.
JD390481 - Sequence 371505 from Patent EP1572962.
JD536886 - Sequence 517910 from Patent EP1572962.
LF326103 - JP 2014500723-A/133606: Polycomb-Associated Non-Coding RNAs.
JD404512 - Sequence 385536 from Patent EP1572962.
JD496991 - Sequence 478015 from Patent EP1572962.
JD274885 - Sequence 255909 from Patent EP1572962.
MA561679 - JP 2018138019-A/133605: Polycomb-Associated Non-Coding RNAs.
MA561680 - JP 2018138019-A/133606: Polycomb-Associated Non-Coding RNAs.
MA444672 - JP 2018138019-A/16598: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000323019.1, ENST00000323019.2, ENST00000323019.3, ENST00000323019.4, ENST00000323019.5, ENST00000323019.6, ENST00000323019.7, ENST00000323019.8, J3KPT3, MID49, MID49_HUMAN, NM_139162, Q6ZRD4, Q96C03, Q96N07, SMCR7, uc317rjp.1, uc317rjp.2
UCSC ID: ENST00000323019.9_7
RefSeq Accession: NM_139162.4
Protein: Q96C03 (aka MID49_HUMAN)

-  Gene Model Information
  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.