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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RHOT2 Gene

protein-coding   GIFtS: 56
GCID: GC16P000826

Ras Homolog Family Member T2

(Previous names: chromosome 16 open reading frame 39, ras homolog gene family,...)
(Previous symbols: C16orf39, ARHT2)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ras Homolog Family Member T21 2     MIRO22
ARHT21 2 3     RASL2
C16orf391 2 3     Mitochondrial Rho GTPase 22
Ras Homolog Gene Family, Member T21 2     EC 3.6.5.-3
Mitochondrial Rho (MIRO) GTPase 21 2     hMiro-23
MIRO-22 3     Ras Homolog Gene Family Member T23
Chromosome 16 Open Reading Frame 391     EC 3.6.58

External Ids:    HGNC: 211691   Entrez Gene: 899412   Ensembl: ENSG000001409837   OMIM: 6138895   UniProtKB: Q8IXI13   

Export aliases for RHOT2 gene to outside databases

Previous GC identifers: GC16P000660 GC16P000661 GC16P000719 GC16P000649 GC16P000720 GC16P000722 GC16P000723 GC16P000727 GC16P000792


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RHOT2 Gene:
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)

GeneCards Summary for RHOT2 Gene: 
RHOT2 (ras homolog family member T2) is a protein-coding gene. Diseases associated with RHOT2 include hypoxia, and among its related super-pathways are Signaling by Rho GTPases and Signaling by GPCR. GO annotations related to this gene include GTPase activity and calcium ion binding. An important paralog of this gene is RHOT1.

UniProtKB/Swiss-Prot: MIRO2_HUMAN, Q8IXI1
Function: Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde
transport of mitochondria and their subcellular distribution (By similarity)

Gene Wiki entry for RHOT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHOT2 gene promoter:
         CREB   C/EBPbeta   Sp1   p53   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHOT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RHOT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHOT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

RHOT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHOT2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000826:  view genomic region     (about GC identifiers)

Start:
718,086 bp from pter      End:
724,174 bp from pter
Size:
6,089 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MIRO2_HUMAN, Q8IXI1 (See protein sequence)
Recommended Name: Mitochondrial Rho GTPase 2  
Size: 618 amino acids; 68118 Da
Subunit: Interacts with the kinesin-binding proteins TRAK1/OIP106 and TRAK2/GRIF1, forming a link between
mitochondria and the trafficking apparatus of the microtubules (By similarity)
Subcellular location: Mitochondrion outer membrane; Single-pass type IV membrane protein. Note=Colocalizes with
MGARP and RHOT2 at the mitochondria
Sequence caution: Sequence=AAK61240.1; Type=Erroneous gene model prediction; Sequence=BAB15740.1; Type=Erroneous
initiation; Sequence=BAC03407.1; Type=Erroneous initiation;
Secondary accessions: A2IDC2 Q8NF53 Q96C13 Q96S17 Q9BT60 Q9H7M8
Alternative splicing: 2 isoforms:  Q8IXI1-1   Q8IXI1-2   

Explore the universe of human proteins at neXtProt for RHOT2: NX_Q8IXI1

Explore proteomics data for RHOT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IXI1

  • 4/9 DME Specific Peptides for RHOT2 (Q8IXI1) (see all 9)
     GRHETTW  FQKSCFG  EEFPEEVP  PTHIVDYS 

    RHOT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHOT2 Protein Expression
    REFSEQ proteins: NP_620124.1  
    ENSEMBL proteins: 
     ENSP00000321971   ENSP00000454307   ENSP00000459564   ENSP00000455138   ENSP00000458136  
     ENSP00000454486   ENSP00000457852   ENSP00000456855   ENSP00000457437  
    Reactome Protein details: Q8IXI1
    Human Recombinant Protein Products for RHOT2: 
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    Novus Biologicals RHOT2 Proteins
    Novus Biologicals RHOT2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RHOT2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005741mitochondrial outer membrane ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----

    RHOT2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    5/10 InterPro protein domains (see all 10):
     IPR011992 EF-hand-like_dom
     IPR013566 EF_hand_assoc_1
     IPR002048 EF_hand_dom
     IPR013684 MIRO-like
     IPR001806 Small_GTPase

    Graphical View of Domain Structure for InterPro Entry Q8IXI1

    ProtoNet protein and cluster: Q8IXI1

    4 Blocks protein domains:
    IPB003577 Ras small GTPase
    IPB003578 Ras small GTPase
    IPB013567 EF hand associated
    IPB013684 Miro-like


    UniProtKB/Swiss-Prot: MIRO2_HUMAN, Q8IXI1
    Similarity: Belongs to the mitochondrial Rho GTPase family
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 2 Miro domains


    RHOT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MIRO2_HUMAN, Q8IXI1
    Function: Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde
    transport of mitochondria and their subcellular distribution (By similarity)

         Enzyme Numbers (IUBMB): EC 3.6.52 EC 3.6.5.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI19528298
    GO:0005525GTP binding IEA--
         
    RHOT2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RHOT2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHOT2 
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    SwitchGear 3'UTR luciferase reporter plasmidRHOT2 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RHOT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    2Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for RHOT2
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    RHOT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RHOT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/19 Interacting proteins for RHOT2 (Q8IXI12, 3 ENSP000003219714) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZFYVE9O954052, 3MINT-62052 I2D: score=3 
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    TRAK1Q9UPV93, ENSP000003289984I2D: score=1 STRING: ENSP00000328998
    BECN1Q144573I2D: score=1 
    CLN3Q132863I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0015031protein transport ----
    GO:0019725cellular homeostasis IMP12482879

    RHOT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RHOT2 (MIRO2)

    Search CenterWatch for drugs/clinical trials and news about RHOT2 / MIRO2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RHOT2 gene: 
    NM_138769.2  

    Unigene Cluster for RHOT2:

    Ras homolog family member T2
    Hs.513242  [show with all ESTs]
    Unigene Representative Sequence: NM_138769
    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000315082(uc002cip.3) ENST00000563776 ENST00000561983 ENST00000563134
    ENST00000562708 ENST00000570092 ENST00000569706 ENST00000569675(uc002ciq.3)
    ENST00000566214 ENST00000563637 ENST00000570280 ENST00000567017 ENST00000568950
    ENST00000602564 ENST00000562693(uc010uum.2) ENST00000562598 ENST00000562333
    ENST00000561929
    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate RHOT2:
    hsa-miR-4324 hsa-miR-125a-5p hsa-miR-125b hsa-miR-4251 hsa-miR-580 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidRHOT2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AJ517413.1 AY207375.1 BC004327.1 BC014942.1 

    23 DOTS entries:

    DT.454981  DT.100664976  DT.100060292  DT.100764328  DT.95362540  DT.95362541  DT.92437469  DT.120689950 
    DT.91950447  DT.92437468  DT.97854144  DT.100060307  DT.100664982  DT.120689947  DT.95362533  DT.100664981 
    DT.100664983  DT.100838352  DT.100866523  DT.92437466  DT.92437467  DT.95362537  DT.100808775 

    24/353 AceView cDNA sequences (see all 353):

    BQ070934 BU617261 AI923461 BC014942 AK024450 BG315528 BF589052 BM695893 
    BX402014 AI073451 BM801769 NM_138769 BQ068395 CR597322 BU538669 BU617082 
    BQ020309 AI744390 CA435268 AL834163 BE350491 BG056082 BM016114 AW275946 

    GeneLoc Exon Structure

    5/33 Alternative Splicing Database (ASD) splice patterns (SP) for RHOT2 (see all 33)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a ·
    SP1:                                            -                             -                                                                       -         
    SP2:                                            -                             -                 -                                                     -         
    SP3:                                            -                                                                                                     -         
    SP4:                                            -                             -                                                                       -         
    SP5:                                            -                             -                 -                                   -     -     -     -         

    ExUns: 12b · 12c · 12d ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c · 24d · 24e
    SP1:                                                                          -     -                             -                                 
    SP2:                                                                          -     -                             -                                 
    SP3:                                                                                                                                                
    SP4:                    -                                                                                                                           
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for RHOT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RHOT2 expression in normal human tissues (normalized intensities)      RHOT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTGGGGC
    RHOT2 Expression
    About this image


    RHOT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Epithelium
             oral mucosa ; squamous epithelial cells   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             salivary gland ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See RHOT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHOT2

    SOURCE GeneReport for Unigene cluster: Hs.513242

    UniProtKB/Swiss-Prot: MIRO2_HUMAN, Q8IXI1
    Tissue specificity: Ubiquitously expressed. Highly expressed in heart, liver, skeletal muscle, kidney and pancreas

        SABiosciences Expression via Pathway-Focused PCR Array including RHOT2: 
              Mitochondria in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHOT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RHOT2 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhot21 , 5 ras homolog gene family, member T21, 5 81.82(n)1
    85.28(a)1
      17 (12.93 cM)5
    2149521  NM_145999.21  NP_666111.11 
     258384575 
    chicken
    (Gallus gallus)
    Aves RHOT21 ras homolog gene family, member T2 74.74(n)
    74.15(a)
      427651  NM_001080866.1  NP_001074335.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHOT26
    Mitochondrial Rho GTPase
    71(a)
    1 ↔ 1
    GL344132.1(26341-64332)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157692 Xenopus laevis transcribed sequence with moderate similarity more 78.17(n)    BJ031050.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rhot21 ras homolog gene family, member T2 66.78(n)
    66.78(a)
      557574  NM_001037679.1  NP_001032768.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Miro6
    Mitochondrial Rho
    46(a)
    1 → many
    3R(19860084-19864569)
    worm
    (Caenorhabditis elegans)
    Secernentea miro-16
    miro-26
    Protein MIRO-2
    43(a)
    39(a)
    many ↔ many
    many ↔ many
    IV(4712826-4715809)
    X(7756701-7758154)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GEM11 Gem1p 42.99(n)
    36.1(a)
      851249   NP_009351.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MIRO11 MIRO-related GTP-ase 1 45.34(n)
    39.03(a)
      832814  NM_001036876.1  NP_001031953.1 
    rice
    (Oryza sativa)
    Liliopsida Os.151152 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.01(n)    AK101920.1 


    ENSEMBL Gene Tree for RHOT2 (if available)
    TreeFam Gene Tree for RHOT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHOT2 gene
    RHOT12  
    2 SIMAP similar genes for RHOT2 using alignment to 8 protein entries:     MIRO2_HUMAN (see all proteins):
    RHOT1    RHOC

    RHOT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/507 SNPs in RHOT2 are shown (see all 507)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918042341,2
    C--653732(+) CCACCC/TGGTGG 1 -- us2k11Minor allele frequency- T:0.00EU 717
    rs1999583821,2
    C--653799(+) GTGCCA/GTCCTG 1 -- us2k10--------
    rs1843915731,2
    C--653827(+) TCTCCA/GGGCTG 1 -- us2k10--------
    rs1891565181,2
    C--653832(+) GGGCTA/GGGGGC 1 -- us2k10--------
    rs2018524721,2
    C--653913(+) GCCACC/TCCTGC 1 -- us2k10--------
    rs118669491,2
    C,F,A,H--653916(+) ACCCCT/CGCACA 1 -- us2k123Minor allele frequency- C:0.31NS EA NA WA CSA EU 3729
    rs99342881,2
    C,F,A,H--653930(+) ACAACC/ATTCCG 1 -- us2k125Minor allele frequency- A:0.14NS EA NA WA EU 4159
    rs1437674321,2
    C--653934(+) CCTTCC/TGTGTG 1 -- us2k10--------
    rs2010301011,2
    C--653964(+) CCCCAA/GTCTCT 1 -- us2k10--------
    rs37439091,2
    C,F,A,H--654071(+) CACCTA/GTCGGC 1 -- us2k121Minor allele frequency- G:0.33EA NS WA NA CSA EU 3598

    HapMap Linkage Disequilibrium report for RHOT2 (718086 - 724174 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 variations for RHOT2 (see all 28):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    dgv2475n71CNV Loss21882294
    nsv904760CNV Loss21882294
    dgv334n27CNV Loss19166990
    nsv904707CNV Loss21882294
    dgv2487n71CNV Loss21882294
    nsv904796CNV Loss21882294
    dgv2492n71CNV Loss21882294
    nsv904797CNV Loss21882294
    dgv2493n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613889    OMIM disorders: --

    2 diseases for RHOT2:    About MalaCards
    hypoxia    


    RHOT2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RHOT2
    Human Genome Epidemiology (HuGE) Navigator: RHOT2 (1 document)

    Export disorders for RHOT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RHOT2 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with RHOT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Atypical Rho GTPases have roles in mitochondrial homeostasis and apoptosis. (PubMed id 12482879)1, 2, 3 Fransson A.... Aspenstroem P. (2003)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. HUMMR, a hypoxia- and HIF-1alpha-inducible protein, a lters mitochondrial distribution and transport. (PubMed id 19528298)1, 2 Li Y....Rempe D.A. (2009)
    4. The atypical Rho GTPases Miro-1 and Miro-2 have essential roles in mitochondrial trafficking. (PubMed id 16630562)1, 2 Fransson S.... Aspenstroem P. (2006)
    5. Rho GTPases have diverse effects on the organization of the actin filament system. (PubMed id 14521508)1, 2 Aspenstroem P.... Saras J. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Cloning and characterization of the mouse Arht2 gene which encodes a putative atypical GTPase. (PubMed id 15218247)1, 2 Shan Y.... Yu L. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    10. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 89941 HGNC: 21169 AceView: RHOT2 Ensembl:ENSG00000140983 euGenes: HUgn89941
    ECgene: RHOT2 H-InvDB: RHOT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RHOT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RHOT2 gene:
    Search GeneIP for patents involving RHOT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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