Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

IMMT Gene

protein-coding   GIFtS: 55
GCID: GC02M086282

inner membrane protein, mitochondrial

(Previous names: inner membrane protein, mitochondrial (mitofilin) )
 Explore 33 diseases affiliated with
IMMT via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IMMT    

Aliases
for IMMT gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Inner Membrane Protein, Mitochondrial1 2     Cell Proliferation-Inducing Protein 522
HMP1 2 3 5     Mitochondrial Inner Membrane Organizing System 22
MINOS21 2 3     Mitochondrial Inner Membrane Protein2
P871 2     Mitofilin3
P891 2     Motor Protein2
Cell Proliferation-Inducing Gene 4/52 Protein2 3     Proliferation-Inducing Gene 42
Inner Membrane Protein, Mitochondrial (Mitofilin)1     Mitofilin3
P87/892     P87/892
PIG522     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Gene Wiki entry for IMMT


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IMMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion inner membrane
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: 3 isoforms:  Q16891-1   Q16891-2   Q16891-3   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16891

    • IMMT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000254636   ENSP00000396899   ENSP00000387262   ENSP00000415762   ENSP00000407788  
     ENSP00000387227   ENSP00000387237  

    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: IMMT
    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 ProSpec Recombinant Proteins
    Uscn Proteins for IMMT

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IDA9168817
    GO:0031305integral to mitochondrial inner membrane IEA--


    IMMT for ontologies           About GeneDecksing



    IMMT Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of IMMT
    Browse R&D Systems for Antibodies
    OriGene Antibodies: IMMT
    OriGene Custom Antibody Services for IMMT 
    GenScript Custom Superior Antibodies Services for IMMT
    Novus Biologicals IMMT Antibodies
    Abcam antibodies for IMMT 
    Uscn Antibodies for IMMT
    ThermoFisher Antibody for IMMT

    Assay Products for IMMT: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IMMT
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for IMMT

    Protein Domains /
    Families
    for IMMT gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IMMT for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019133 Mt-IM_prot_Mitofilin

    Graphical View of Domain Structure for InterPro Entry Q16891

    ProtoNet protein and cluster: Q16891


    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 3): IMMT
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IMMT
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IMMT
    SwitchGear 3'UTR luciferase reporter plasmid: IMMT 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IMMT (see all 7)
    OriGene shRNA RFP: IMMT
    OriGene siRNA: IMMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IMMT

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IMMT (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IMMT (see all 3)
    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)
    Browse Sino Biological Human cDNA Clones
    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
    Search LifeMap BioReagents cell lines for IMMT

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMMT

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16169070


    IMMT for ontologies           About GeneDecksing



    Pathways & Interactions
    for IMMT gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

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

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

    5/238 Interacting proteins for IMMT (Q168911, 2, 3 ENSP000003872624) via UniProtKB, MINT, STRING, and/or I2D (see all 238)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KDM1AO603411, 2, 3EBI-473801,EBI-710124 MINT-63173 I2D: score=5 
    CHD3Q128732, 3, ENSP000003697164MINT-3979961 MINT-65853 I2D: score=6 STRING: ENSP00000369716
    EEF1A1P681042, 3MINT-6488590 MINT-8258734 MINT-6488791 I2D: score=2 
    MRPL44Q9H9J22, 3MINT-65524 MINT-8263324 I2D: score=5 
    NDUFB9Q9Y6M92, 3, ENSP000002766894MINT-65870 I2D: score=5 STRING: ENSP00000276689
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IMMT for compounds           About GeneDecksing

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

    Browse Tocris compounds for IMMT
    6 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about IMMT 

    Transcripts
    for IMMT gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 3): IMMT
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IMMT
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IMMT
    SwitchGear 3'UTR luciferase reporter plasmid: IMMT 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IMMT (see all 7)
    OriGene shRNA RFP: IMMT
    OriGene siRNA: IMMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IMMT
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IMMT (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IMMT (see all 3)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for IMMT
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IMMT
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IMMT
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IMMT

    Additional cDNA 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 

    24/36 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 

    24/566 AceView cDNA sequences (see all 566):

    AA165119 AU107739 CB149497 AI439378 BM681273 AY232292 BP345784 CD678350 
    AA928404 AJ573309 W95051 BU527646 AI003178 CD623349 AA996053 BQ045218 
    BM911278 AU107733 CD358141 AI364744 BG680845 BM968295 AI263151 AA079255 

    GeneLoc Exon Structure

    5/15 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™, 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

    IMMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGTGAACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    IMMT expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    BrainMedulla OblongataBrain
    Gut TubeMidgutGut Tube
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.148559
        SABiosciences Custom PCR Arrays for IMMT
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IMMT
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IMMT
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IMMT
    QIAGEN 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
    This gene was present in the common ancestor of animals.

    Orthologs for IMMT gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Immt1 , 5 inner membrane protein, mitochondrial1, 5 88.14(n)1
    90.08(a)1    		   6 (32.21 cM)5
    766141  NM_029673.31  NP_083949.21 
     718313315 
    chicken
    (Gallus gallus)    		 Aves IMMT1 inner membrane protein, mitochondrial 73.57(n)
    76.9(a)    		   422912  NM_001006462.1  NP_001006462.1 
    lizard
    (Anolis carolinensis)    		 Reptilia IMMT6
    		 --
    		 72(a)
    		 1 ↔ 1
    		 6(60669841-60690151)
    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 42.27(n)
    30.05(a)    		   42587  NM_079720.2  NP_524444.3 
    worm
    (Caenorhabditis elegans)    		 Secernentea T14G11.33
    immt-11    		 L96 protein (tipula iridescent virus (TIV)
    (weak))3
    Protein IMMT-11    		 27(a)
    (best of 2)3
    45.47(n)1
    32.91(a)1    		   X(2718430-2724093)3
    1805661  NM_076074.41  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
    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, UniProtKB, 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

    10/942 NCBI SNPs in IMMT are shown (see all 942)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1138475891,2
    		--86322020(+) ACGCGG/AGCGGA 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1871025781,2
    		--86370636(+) GTGACA/GCAATT 3 -- ds50010--------
    rs1426725471,2
    		C,--86370667(+) TAGAA-/GTTCCTA
    CTTCTAGCT    GTTCC     		3 -- ds50010--------
    rs75781941,2
    		C,F,A,H,,--86370684(+) TGCTGC/TTGTTG 3 -- ds50014Minor allele frequency- T:0.30NA CSA 10
    rs1918917051,2
    		--86370760(+) CTCTTA/GTTGCC 3 -- ds50010--------
    rs1132575401,2
    		--86370789(+) TGCGAC/TCCTGA 3 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1132609551,2
    		--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
    rs1460694591,2
    		--86371115(+) GTAGAC/GATCAC 3 -- ut310--------
    rs1389551721,2
    		--86371202(+) GAAAGC/GACTCC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for IMMT (86371055 - 86422893 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for IMMT
         1 CNV: 8380
    Human Gene Mutation Database (HGMD): IMMT

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    IMMT for disorders           About GeneDecksing

    OMIM gene information: 600378    OMIM disorders: --

    20/33 diseases for IMMT (see all 33):    About MalaCards
    tethered spinal cord syndrome    amish lethal microcephaly    age related macular degeneration    centrocytic lymphoma
    iron overload    xeroderma pigmentosum    infectious mononucleosis    gracile syndrome
    macular degeneration    primary biliary cirrhosis    b-cell lymphomas    batten disease
    paraneoplastic syndromes    microcephaly    metabolic disorders    cramps
    glaucoma    diabetes mellitus    down syndrome    endocarditis

    3 Novoseek 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)

    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

    PubMed articles for IMMT gene, integrated from 9 sources (see all 126):
    (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. (1997)
    2. A novel human gene that is preferentially transcribed in heart muscle. (PubMed id 8039717)1, 2, 3 Icho T.... Tsuchida N. (1994)
    3. MINOS1 is a conserved component of mitofilin complexe s and required for mitochondrial function and cristae organization. (PubMed id 22114354)1, 2 Alkhaja A.K....Deckers M. (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. (2012)
    5. 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)
    6. Mitochondrial localization of PARP-1 requires interac tion with mitofilin and is involved in the maintenance of mitochondrial DNA int egrity. (PubMed id 19762472)1, 9 Rossi M.N....Amati P. (2009)
    7. The mitochondrial inner membrane protein mitofilin controls cristae morphology. (PubMed id 15647377)1, 9 John G.B....Zha J. (2005)
    8. 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. (2007)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

    External Searches for IMMT gene

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

    Specialized Databases showing IMMT gene

    (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 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
    		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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of IMMT
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for IMMT   OriGene shRNA RFP for IMMT  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IMMT   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IMMT  
     OriGene Protein Over-expression Lysate for IMMT   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for IMMT   OriGene 3'-UTR Clone for IMMT  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IMMT   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IMMT  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for IMMT   OriGene Custom Protein Services for IMMT  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IMMT
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IMMT
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IMMT
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IMMT
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IMMT
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IMMT
     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 Superior Antibodies 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

     Regulatory tfbs in IMMT promoter
     Search Chromatin IP Primers for IMMT
     RT2 qPCR Primer Assay in human, mouse, rat IMMT
     Search GNC Networks for IMMT
     SABiosciences Custom PCR Arrays for IMMT
     Search Tocris compounds for IMMT
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     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




     IMMT Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines 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
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      IMMT gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4