• Gene id: 89941

Gene Summary

• Gene Symbol: RHOT2   Gene   UCSC   Ensembl
• Aliases: ARHT2, C16orf39, MIRO-2, MIRO2, RASL
• Gene name: ras homolog family member T2
• Alternate names: mitochondrial Rho GTPase 2, mitochondrial Rho (MIRO) GTPase 2, ras homolog gene family, member T2,
• Gene location: 16p13.3 (668082: 674173)     Exons: 19     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011]
• OMIM: 605057

Protein Summary

• Protein general information: Q8IXI1  
  • Name: Mitochondrial Rho GTPase 2 (MIRO 2) (hMiro 2) (EC 3.6.5. ) (Ras homolog gene family member T2)
  • Length: 618  
  • Mass: 68118
  • Tissue specificity: Ubiquitously expressed. Highly expressed in heart, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MRRDVRILLLGEAQVGKTSLILSLVGEEFPEEVPPRAEEITIPADVTPEKVPTHIVDYSEAEQTDEELREEIHKA
  NVVCVVYDVSEEATIEKIRTKWIPLVNGGTTQGPRVPIILVGNKSDLRSGSSMEAVLPIMSQFPEIETCVECSAK
  NLRNISELFYYAQKAVLHPTAPLYDPEAKQLRPACAQALTRIFRLSDQDLDQALSDEELNAFQKSCFGHPLAPQA
  LEDVKTVVCRNVAGGVREDRLTLDGFLFLNTLFIQRGRHETTWTILRRFGYSDALELTADYLSPLIHVPPGCSTE
  LNHLGYQFVQRVFEKHDQDRDGALSPVELQSLFSVFPAAPWGPELPRTVRTEAGRLPLHGYLCQWTLVTYLDVRS
  CLGHLGYLGYPTLCEQDQAHAITVTREKRLDQEKGQTQRSVLLCKVVGARGVGKSAFLQAFLGRGLGHQDTREQP
  PGYAIDTVQVNGQEKYLILCEVGTDGLLATSLDATCDVACLMFDGSDPKSFAHCASVYKHHYMDGQTPCLFVSSK
  ADLPEGVAVSGPSPAEFCRKHRLPAPVPFSCAGPAEPSTTIFTQLATMAAFPHLVHAELHPSSFWLRGLLGVVGA
  AVAAVLSFSLYRVLVKSQ

• Structural information:
  • Protein Domains: (1..14-)
    (/note="Miro-1)
    (184..21-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (304..33-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (410..61-)
    (/note="Miro-2")
  • Interpro: IPR011992  IPR018247  IPR013566  IPR013567  IPR002048   IPR021181  IPR020860  IPR027417  IPR001806  
  • Prosite: PS00018 PS50222 PS51423
  • PDB: 5KUT
  • PDBsum: 5KUT
  • STRING: ENSP00000321971
• Other Databases: GeneCards:  RHOT2  Malacards:  RHOT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031307	integral component of mitochondrial outer membrane	IBA	cellular component
GO:0047497	mitochondrion transport along microtubule	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0007005	mitochondrion organization	IBA	biological process
GO:0010821	regulation of mitochondrion organization	IBA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0019725	cellular homeostasis	IMP	biological process
GO:0097345	mitochondrial outer membrane permeabilization	IMP	biological process
GO:0047497	mitochondrion transport along microtubule	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq