Mief2 Gene Detail

Summary

• Symbol
  Mief2
• Name
  mitochondrial elongation factor 2
• Synonyms
  LOC237781, Smcr7

• Feature Type
  protein coding gene
• IDs
  MGI:2144199
  NCBI Gene: 237781
• Alliance
  gene page
• Transcription Start Sites
  2 TSS

Location &
Maps

• Sequence Map
  Chr11:60619224-60623777 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 37.81 cM
• Mapping Data
  4 experiments

Strain
Comparison

• SNPs within 2kb
  150 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2144199	protein coding gene	Chr11:60619224-60623777 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018423	protein coding gene	Chr11:60642874-60647427 (+)
A/J	MGP_AJ_G0018392	protein coding gene	Chr11:58411387-58415948 (+)
AKR/J	MGP_AKRJ_G0018362	protein coding gene	Chr11:60264961-60269514 (+)
BALB/cJ	MGP_BALBcJ_G0018363	protein coding gene	Chr11:58708359-58712912 (+)
C3H/HeJ	MGP_C3HHeJ_G0018176	protein coding gene	Chr11:60199383-60203944 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018815	protein coding gene	Chr11:62563877-62568430 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016461	protein coding gene	Chr11:55554663-55559787 (+)
CAST/EiJ	MGP_CASTEiJ_G0017733	protein coding gene	Chr11:60296800-60301361 (+)
CBA/J	MGP_CBAJ_G0018150	protein coding gene	Chr11:65287102-65291663 (+)
DBA/2J	MGP_DBA2J_G0018259	protein coding gene	Chr11:57997914-58002467 (+)
FVB/NJ	MGP_FVBNJ_G0018250	protein coding gene	Chr11:57660131-57664666 (+)
LP/J	MGP_LPJ_G0018332	protein coding gene	Chr11:61222310-61226863 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018274	protein coding gene	Chr11:66342698-66347251 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018856	protein coding gene	Chr11:60355507-60360068 (+)
PWK/PhJ	MGP_PWKPhJ_G0017506	protein coding gene	Chr11:58575431-58580029 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017296	protein coding gene	Chr11:60174129-60178705 (+)
WSB/EiJ	MGP_WSBEiJ_G0017785	protein coding gene	Chr11:59977519-59982074 (+)

Homology

• Human Ortholog
  MIEF2, mitochondrial elongation factor 2

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MIEF2, mitochondrial elongation factor 2
  
• Synonyms
  COXPD49, D3B, MID49, SMCR7
• Links
  HGNC:17920

  NCBI Gene ID: 125170

  neXtProt AC: NX_Q96C03

  UniProt: Q96C03

  
  
• Chr Location
  17p11.2; chr17:18260597-18266552 (+)  GRCh38

---

• MGI Vertebrate Homology
  Mief2 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: MIEF2
• Gene Tree
  Mief2
  

Human Diseases

• Diseases
  1 with human MIEF2 associations

				Human Disease	Mouse Models
				combined oxidative phosphorylation deficiency 49 IDs combined oxidative phosphorylation deficiency 49       DOID:0112110 OMIM:619024

Click on a disease name to see all genes associated with that disease.

• References
  2 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  20 phenotype references
  

• All Mutations and Alleles
  11
• Chemically induced (other)
  1
• Endonuclease-mediated
  3
• Gene trapped
  2
• Targeted
  5
• Genomic Mutations
  3 involving Mief2
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  14 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  16
• GO References
  5

Expression

• Assay Results
  706
• cDNA Data
  7

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase mief2
  ZFIN mief2

Sequences &
Gene Models

• All Sequences
  37
• RefSeq
  2
• UniProt
  2
• CCDS
  CCDS24796.1

• Ensembl
  ENSMUSG00000018599 (Evidence)
• NCBI Gene
  237781

Representative Sequences			Length	Strain/Species
genomic	237781	NCBI Gene Model | MGI Sequence Detail	4554	C57BL/6J
transcript	NM_001009927	RefSeq | MGI Sequence Detail	2564	C57BL/6
polypeptide	Q5NCS9	UniProt | EBI | MGI Sequence Detail	454	Not Applicable

Protein
Information

• UniProt
  2 Sequences
• Protein Ontology
  PR:000015278 Smith-Magenis syndrome chromosome region candidate gene 7 protein
  (term hierarchy)
• PDB
  4WOY
• InterPro Domains
  IPR024810 MAB21L/Cyclic GMP-AMP synthase-like receptor
  IPR046906 Mab-21-like, HhH/H2TH-like domain
  IPR045909 Mitochondrial dynamics protein MID49/MID51
  IPR049097 Mitochondrial dynamics protein MID51-like, C-terminal domain

Molecular
Reagents

• All nucleic 7

  cDNA 7

  
  

  Microarray probesets 2

Other
Accession IDs

MGI:2684857

References

• Summaries
  All 44

  Diseases 2

  Gene Ontology 5

  Phenotypes 20
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Mief2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101913	Chr11:60619239-60619280 (+)	36 bp
Tssr101914	Chr11:60619307-60619328 (+)	94 bp