Set Analyses:
GeneALaCart
GeneDecks
VarElect
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 


IMMT Gene

protein-coding   GIFtS: 59
GCID: GC02M086282

Inner Membrane Protein, Mitochondrial

(Previous names: inner membrane protein, mitochondrial (mitofilin))
Microbiology & Infectious Diseases Congress
  See related diseases
at
MalaCards
 

Aliases
for IMMT gene

(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

TryGeneCards Plus
Aliases
Inner Membrane Protein, Mitochondrial1 2     P892
HMP2 3 5     PIG522
Mitochondrial Inner Membrane Organizing System 21 2     Cell Proliferation-Inducing Protein 522
mitofilin1 2     Mitochondrial Inner Membrane Protein2
Cell Proliferation-Inducing Gene 4/52 Protein2 3     Motor Protein2
MINOS22 3     Proliferation-Inducing Gene 42
Inner Membrane Protein, Mitochondrial (Mitofilin)1     Mitofilin3
P872     p87/893
P87/892     

External Ids:    HGNC: 60471   Entrez Gene: 109892   Ensembl: ENSG000001323057   OMIM: 6003785   UniProtKB: Q168913   

Export aliases for IMMT gene to outside databases

Previous GC identifers: GC02M086266 GC02M086665 GC02M086345


Summaries
for IMMT gene

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

TryGeneCards Plus
GeneCards Summary for IMMT Gene:
IMMT (inner membrane protein, mitochondrial) is a protein-coding gene. Diseases associated with IMMT include gracile syndrome, and amish lethal microcephaly.

Gene Wiki entry for IMMT Gene


Genomic Views
for IMMT 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IMMT gene promoter:
         GR   STAT1   STAT1beta   IRF-1   STAT1alpha   Max   POU2F1   POU2F1a   GR-alpha   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IMMT promoter sequence
   Search Chromatin IP Primers for IMMT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IMMT


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

Entrez Gene cytogenetic band: 2p11.2|2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M086282:  view genomic region     (about GC identifiers)

Start:
 86,371,055 bp from pter      End:
 86,422,893 bp from pter
Size:
 51,839 bases      Orientation:
 minus strand

Proteins
for IMMT gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus
UniProtKB/Swiss-Prot: IMMT_HUMAN, Q16891 (See protein sequence)
Recommended Name: Mitochondrial inner membrane protein  
Size: 758 amino acids; 83678 Da
Subunit: Interacts with OPA1, preferentially with the soluble OPA1 form. Component of the MINOS/MitOS complex,
that includes IMMT, HSPA9 and CHCHD3 and associates with mitochondrial outer membrane proteins SAMM50, MTX1 and
MTX2. Interacts with CHCHD6; the interaction is direct
Sequence caution: Sequence=CAH18389.1; Type=Erroneous termination; Positions=759; Note=Translated as stop;
Secondary accessions: B1H0U5 B2R5N6 Q14539 Q15092 Q68D41 Q69HW5 Q6IBL0 Q7Z3X1 Q8TAJ5 Q9P0V2
Alternative splicing: 4 isoforms:  Q16891-1   Q16891-2   Q16891-3   Q16891-4   

Explore the universe of human proteins at neXtProt for IMMT: NX_Q16891

Explore proteomics data for IMMT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys102, Lys110, Lys451
  • Modification sites at PhosphoSitePlus

    • See IMMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001093639.1  NP_001093640.1  NP_006830.2  

    ENSEMBL proteins: 
     ENSP00000254636   ENSP00000396899   ENSP00000387262   ENSP00000415762   ENSP00000407788  
     ENSP00000387227   ENSP00000387237  

    IMMT Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for IMMT
    OriGene Protein Over-expression Lysate for IMMT
    OriGene Custom MassSpec
    OriGene Custom Protein Services for IMMT
    GenScript Custom Purified and Recombinant Proteins Services for IMMT
    Novus Biologicals IMMT Proteins
    Novus Biologicals IMMT Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IMMT

    IMMT Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of IMMT
    Browse R&D Systems for Antibodies
    OriGene Antibodies for IMMT
    OriGene Custom Antibody Services for IMMT
    Novus Biologicals IMMT Antibodies
    Abcam antibodies for IMMT
    Cloud-Clone Corp. Antibodies for IMMT
    ThermoFisher Antibody for IMMT
    LSBio Antibodies in human, mouse, rat for IMMT

    IMMT Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for IMMT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IMMT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IMMT
    Cloud-Clone Corp. CLIAs for IMMT

    Domains /
    Families
    for IMMT gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR019133 Mt-IM_prot_Mitofilin

    Graphical View of Domain Structure for InterPro Entry Q16891

    ProtoNet protein and cluster: Q16891


    IMMT for domains           About GeneDecksing


    Function
    for IMMT gene

    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16169070
    GO:0044822poly(A) RNA binding IDA--
         
    IMMT for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IMMT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IMMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IMMT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IMMT

    miRNA
    Products:            		miRTarBase miRNAs that target IMMT:
    hsa-mir-615-3p (MIRT040039), hsa-mir-17-5p (MIRT050824), hsa-mir-34a-5p (MIRT025510), hsa-mir-652-3p (MIRT039513)

    Block miRNA regulation of human, mouse, rat IMMT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate IMMT
    SwitchGear 3'UTR luciferase reporter plasmid: IMMT 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for IMMT
    Predesigned siRNA for gene silencing in human, mouse, rat IMMT

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for IMMT

    Clone
    Products:             		 OriGene clones in human, mouse for IMMT (see all 17)
    OriGene ORF clones in mouse, rat for IMMT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): IMMT (NM_006839)
    Sino Biological Human cDNA Clone for IMMT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMMT

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for IMMT
    Browse ESI BIO Cell Lines and PureStem Progenitors for IMMT 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMMT


    Localization
    for IMMT gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus
    Subcellular locations from UniProtKB/Swiss-Prot
    IMMT_HUMAN, Q16891: Mitochondrion inner membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IDA9168817
    GO:0016021integral component of membrane IEA--

    IMMT for ontologies           About GeneDecksing


    Pathways & Interactions
    for IMMT gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IMMT
    Interactions:

        Search GeneGlobe Interaction Network for IMMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IMMT (Q168911, 2, 3 ENSP000003872624) via UniProtKB, MINT, STRING, and/or I2D (see all 403)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225748P486342, 3, ENSP000003874774MINT-62725 MINT-62627 MINT-62801 I2D: score=5 STRING: ENSP00000387477
    ENSG00000231825P486342, 3, ENSP000004153634MINT-62725 MINT-62627 MINT-62801 I2D: score=5 STRING: ENSP00000415363
    ENSG00000206427P486342, 3MINT-62725 MINT-62627 MINT-62801 I2D: score=5 
    ENSG00000225164P486342, 3MINT-62725 MINT-62627 MINT-62801 I2D: score=5 
    ENSG00000226618P486342, 3MINT-62725 MINT-62627 MINT-62801 I2D: score=5 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0009409response to cold IEA--
    GO:0051560mitochondrial calcium ion homeostasis IEA--

    IMMT for ontologies           About GeneDecksing



    Drugs & Compounds
    for IMMT gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IMMT

    6 Novoseek inferred chemical compound relationships for IMMT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 37.9 4 1535179 (1), 9698557 (1), 12783457 (1), 16303948 (1)
    oxygen 12.6 2 15088069 (1), 17611046 (1)
    adp 0.0887 1 9698557 (1)
    nitric oxide 0 16 17611046 (5), 18086377 (3), 18356528 (1)
    lipid 0 1 10656679 (1)
    copper 0 2 11673586 (1), 15210538 (1)



    IMMT for compounds           About GeneDecksing



    Transcripts
    for IMMT gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus
    REFSEQ mRNAs for IMMT gene (3 alternative transcripts): 
    NM_001100169.1  NM_001100170.1  NM_006839.2  

    Unigene Cluster for IMMT:

    Inner membrane protein, mitochondrial
    Hs.148559  [show with all ESTs]
    Unigene Representative Sequence: NM_006839
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254636(uc002sqy.4) ENST00000449247(uc002src.1) ENST00000410111(uc002sqz.4 uc002srb.4 uc002sra.4 uc010ytd.2 uc010yte.2 uc002sre.3 uc010fgs.1 uc010ytf.1)
    ENST00000419070 ENST00000442664 ENST00000409051 ENST00000474969 ENST00000490238
    ENST00000409258 ENST00000460081 ENST00000486633
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat IMMT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate IMMT
    SwitchGear 3'UTR luciferase reporter plasmid: IMMT 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for IMMT
    Predesigned siRNA for gene silencing in human, mouse, rat IMMT
    Clone
    Products:             		 OriGene clones in human, mouse for IMMT (see all 17)
    OriGene ORF clones in mouse, rat for IMMT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): IMMT (NM_006839)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMMT
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for IMMT
    OriGene qSTAR qPCR primer pairs in human, mouse for IMMT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IMMT
      QuantiTect SYBR Green Assays in human, mouse, rat IMMT
      QuantiFast Probe-based Assays in human, mouse, rat IMMT

    Additional mRNA sequence: 

    AF148646.1 AK225780.1 AK296676.1 AK299014.1 AK299596.1 AK300017.1 AK304197.1 AK309004.1 
    AK312251.1 AY232292.1 AY921637.1 BC002412.2 BC005983.1 BC027458.1 BC107419.1 BX537369.1 
    CR456793.1 CR749590.1 D21091.1 D21092.1 D21093.1 D21094.1 L42572.1 

    Selected DOTS entries (see all 36):

    DT.100882244  DT.456316  DT.120945155  DT.95266448  DT.120945213  DT.100882248  DT.100051990  DT.100882231 
    DT.95266454  DT.120945137  DT.100882242  DT.120945100  DT.91765385  DT.100882250  DT.102832682  DT.120945159 
    DT.120945207  DT.100055540  DT.100882233  DT.100882245  DT.120945165  DT.120945171  DT.120945205  DT.100806800 

    Selected AceView cDNA sequences (see all 566):

    AU146496 BG001990 BU726449 BE887828 BF980984 AI935295 AU107737 BQ681225 
    AA188614 AA165119 AW732074 AA773194 AI630248 AI310749 AI439378 BM976118 
    AA247783 BQ224028 AI159802 AA813233 BM990354 AA190718 BM702325 BQ638298 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IMMT (see all 15)    About this scheme

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

    ExUns: 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for IMMT

    Expression
    for IMMT gene

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

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


    IMMT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Thymus (Hematopoietic System)
             Thymus
     
     Eye (Sensory Organs)
             Retina
    IMMT Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    IMMT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.148559
        Custom PCR Arrays for IMMT
    Primer
    Products:    		OriGene qPCR primer pairs and template standards for IMMT
    OriGene qSTAR qPCR primer pairs in human, mouse for IMMT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IMMT
    QuantiTect SYBR Green Assays in human, mouse, rat IMMT
    QuantiFast Probe-based Assays in human, mouse, rat IMMT
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMMT

    Orthologs
    for IMMT gene

    (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

    TryGeneCards Plus
    This gene was present in the common ancestor of animals.

    Orthologs for IMMT gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Immt1 , 5 inner membrane protein, mitochondrial1, 5 88.15(n)1
    90.09(a)1    		   6 (32.21 cM)5
    766141  NM_029673.31  NP_083949.21 
     718313315 
    chicken
    (Gallus gallus)    		 Aves IMMT1 inner membrane protein, mitochondrial 73.94(n)
    77.46(a)    		   422912  NM_001006462.1  NP_001006462.1 
    lizard
    (Anolis carolinensis)    		 Reptilia IMMT6
    		 inner membrane protein, mitochondrial
    		 73(a)
    		 1 ↔ 1
    		 6(60662495-60695115)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.88782 Xenopus laevis, clone IMAGE4682452, mRNA 71.4(n)    BC041326.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufd16e042 Danio rerio cDNA clone MGC64180 IMAGE6797898, complete more 73.91(n)    BC057438.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG64551 CG6455 45.13(n)
    33.6(a)    		   42587  NM_001275889.1  NP_001262818.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea T14G11.33
    immt-11    		 L96 protein (tipula iridescent virus
    (TIV) (weak))3
    immt-11    		 27(a)
    (best of 2)3
    45.17(n)1
    33.28(a)1    		   X(2718430-2724093)3
    1805661  NM_076074.51  NP_508475.21 


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

    Paralogs
    for IMMT gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for IMMT gene

    IMMT for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for IMMT
    PGOHUM00000263062


    Genomic Variants
    for IMMT gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus
    Selected SNPs for IMMT (see all 1135)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1871025781,2
    		--86370636(+) GTGACA/GCAATT 3 -- ds50010--------
    rs1426725471,2
    		C--86370667(+) TAGAA-/GTTCCTA
    CTTCTAGCT    GTTCC     		3 -- ds50010--------
    rs612029031,2
    		C--86370679(+) CTTCT-/AGCTGT 3 -- ds50010--------
    rs75781941,2
    		C,F,A,H--86370684(+) TGCTGC/TTGTTG 3 -- ds50014Minor allele frequency- T:0.30NA CSA 10
    rs608235661,2
    		C--86370685(+) CTGTT-/CCTA/C
    CTACTTCT    GTTGT     		6 -- ds5001 cds10--------
    rs3704473311,2
    		C--86370687(+) CTGTT-/TTGTTT 3 -- ds50010--------
    rs1918917051,2
    		--86370760(+) CTCTTA/GTTGCC 3 -- ds50010--------
    rs1132575401,2
    		C,F--86370789(+) TGCGAC/TCCTGA 3 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1132609551,2
    		C,F--86370797(+) TGACTC/TACTGC 3 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs8762421,2
    		C,F,A,H--86371012(+) GCTACT/CGCACC 3 -- ds500120Minor allele frequency- C:0.39NS EA NA WA CSA 1990

    HapMap Linkage Disequilibrium report for IMMT (86371055 - 86422893 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for IMMT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720300CNV Deletion23290073
    esv2751903CNV Gain17911159
    nsv458574CNV Gain19166990
    nsv458563CNV Gain19166990

    Human Gene Mutation Database (HGMD): IMMT
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing IMMT
    DNA2.0 Custom Variant and Variant Library Synthesis for IMMT

    Disorders / Diseases
    for IMMT gene

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

    TryGeneCards Plus
    OMIM gene information: 600378    OMIM disorders: --

    Selected diseases for IMMT (see all 33):    
    About MalaCards
    gracile syndrome    amish lethal microcephaly    melanoma-associated retinopathy    tethered spinal cord syndrome
    mitochondrial dna depletion syndrome    paraneoplastic syndromes    batten disease    microcephaly
    primary biliary cirrhosis    endocarditis    xeroderma pigmentosum    age related macular degeneration
    down syndrome    glaucoma    b-cell lymphomas    neuropathy
    huntington's disease    schizophrenia    ischemia    diabetes mellitus


    IMMT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    3 Novoseek inferred disease relationships for IMMT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma b-cell 33 1 1633729 (1)
    biliary cirrhosis primary 23.6 1 2295468 (1)
    encephalopathy 9.46 2 14528910 (1)

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

    Export disorders for IMMT gene to outside databases

    Publications
    for IMMT gene

    (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

    TryGeneCards Plus
    PubMed articles for IMMT gene, integrated from 10 sources (see all 139):
    (articles sorted by number of sources associating them with IMMT)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitofilin is a transmembrane protein of the inner mitochondrial membrane expressed as two isoforms. (PubMed id 9168817)1, 2, 3, 9 Gieffers C.... Frey J. (Exp. Cell Res. 1997)
    2. A novel human gene that is preferentially transcribed in heart muscle. (PubMed id 8039717)1, 2, 3 Icho T.... Tsuchida N. (Gene 1994)
    3. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PubMed id 22114354)1, 2 Alkhaja A.K.... Deckers M. (Mol. Biol. Cell 2012)
    4. CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. (PubMed id 22228767)1, 2 An J.... Sheikh M.S. (J. Biol. Chem. 2012)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    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. (Genome Res. 2004)
    7. Mitochondrial localization of PARP-1 requires interaction with mitofilin and is involved in the maintenance of mitochondrial DNA integrity. (PubMed id 19762472)1, 9 Rossi M.N....Amati P. (J. Biol. Chem. 2009)
    8. The mitochondrial inner membrane protein mitofilin controls cristae morphology. (PubMed id 15647377)1, 9 John G.B....Zha J. (Mol. Biol. Cell 2005)
    9. The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil- helix domain-containing protein 3 and 6 and DnaJC11. (PubMed id 17624330)1, 9 Xie J.... Capaldi R.A. (FEBS Lett. 2007)
    10. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)

    External Searches for IMMT gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IMMT gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10989 HGNC: 6047 AceView: IMMT Ensembl:ENSG00000132305 euGenes: HUgn10989
    ECgene: IMMT H-InvDB: IMMT

    Other Databases showing IMMT gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing IMMT gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for IMMT Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for IMMT gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for IMMT gene:
    Search GeneIP for patents involving IMMT

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



    Products
    for IMMT gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of IMMT
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for IMMT   OriGene RNAi products in human, mouse, rat for IMMT  
     OriGene qPCR primer pairs and template standards for IMMT   OriGene Protein Over-expression Lysate for IMMT  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for IMMT  
     OriGene qSTAR qPCR primer pairs in human, mouse for IMMT   OriGene Purified Protein for IMMT  
     OriGene ORF clones in mouse, rat for IMMT   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for IMMT   OriGene Custom Protein Services for IMMT  

         		 
     Block miRNA regulation of human, mouse, rat IMMT using miScript Target Protectors SeqTarget long-range PCR primers for resequencing IMMT
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IMMT Predesigned siRNA for gene silencing in human, mouse, rat IMMT
     QuantiFast Probe-based Assays in human, mouse, rat IMMT QuantiTect SYBR Green Assays in human, mouse, rat IMMT
     Custom PCR Arrays for IMMT Search Chromatin IP Primers for IMMT
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IMMT  Search GeneGlobe Interaction Network for IMMT
     Regulatory tfbs in IMMT promoter
     GenScript Custom Purified and Recombinant Proteins Services for IMMT GenScript cDNA clones with any tag delivered in your preferred vector for IMMT
     GenScript Custom Assay Services for IMMT GenScript Custom overexpressing Cell Line Services for IMMT
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for IMMT
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for IMMT
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     IMMT antibodies
     IMMT proteins
     IMMT lysates
     Antibodies for IMMT
     See all of Abcam's Antibodies, Kits and Proteins for IMMT
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for IMMT
     Antibodies for IMMT
     ELISAs for IMMT
     CLIAs for IMMT



     Browse ESI BIO Cell Lines and PureStem Progenitors for IMMT
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMMT
     SwitchGear 3'UTR luciferase reporter plasmids for IMMT
     SwitchGear Promoter luciferase reporter plasmids for IMMT
     ThermoFisher Antibody for IMMT
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMMT
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IMMT
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IMMT
     LSBio Antibodies in human, mouse, rat for IMMT
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2014 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      IMMT gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4