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

IMMT Gene

protein-coding   GIFtS: 58
GCID: GC02M086282

Inner Membrane Protein, Mitochondrial

(Previous names: inner membrane protein, mitochondrial (mitofilin))
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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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for IMMT Gene: 
IMMT (inner membrane protein, mitochondrial) is a protein-coding gene. Diseases associated with IMMT include amish lethal microcephaly, and gracile syndrome. GO annotations related to this gene include protein binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
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 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: 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: 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:

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

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

    IMMT Protein Expression
    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 for IMMT: 
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    OriGene Protein Over-expression Lysate for IMMT
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    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 

    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:0016021integral to membrane IEA--

    IMMT for ontologies           About GeneDecksing



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    Assay Products for IMMT: 
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    Cloud-Clone Corp. ELISAs for IMMT 
    Cloud-Clone Corp. CLIAs for IMMT

    Protein 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
    		 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,
    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

         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


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IMMT 
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    miRNA
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Pathways & Interactions
    for IMMT gene

    (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




    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)

    5/247 Interacting proteins for IMMT (Q168911, 2, 3 ENSP000003872624) via UniProtKB, MINT, STRING, and/or I2D (see all 247)
    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
    PRRC2AP486342, 3, ENSP000003651754MINT-62725 MINT-62627 MINT-62801 I2D: score=5 STRING: ENSP00000365175
    ENSG00000206427P486342, 3MINT-62725 MINT-62627 MINT-62801 I2D: score=5 
    ENSG00000225164P486342, 3MINT-62725 MINT-62627 MINT-62801 I2D: score=5 
    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, 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

    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 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)

    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 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 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
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IMMT
      QIAGEN 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 

    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):

    AA247783 AI263151 AA773194 AU107739 AI283359 BE887828 CA415634 AU077227 
    AI378595 D21093 AW732074 Z41162 BQ001046 BQ045218 CD245194 AA190718 
    BQ224028 CR610445 BG680845 AA677859 BM796622 AA910663 AI264826 BP348834 

    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)      IMMT embryonic expression: see
    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 
     5/32 selected tissues (see all 32) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             bronchus ; respiratory epithelial cells   
             visceral organ/lung/right lung   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
             visceral organ/testis/seminiferous cord   
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
             visceral organ/gut/foregut-midgut junction   

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

    SOURCE GeneReport for Unigene cluster: Hs.148559
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    In Situ
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    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 7/17 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 88.14(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
    		 inner membrane protein, mitochondrial
    		 72(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 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, 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

    10/1135 SNPs in IMMT are shown (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
    ----------
    VAR_0215304
    		----see VAR_0215302 P S mis40--------
    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

    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
    SABiosciences Cancer Mutation 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
    		 OMIM gene information: 600378    OMIM disorders: --

    20/26 diseases for IMMT (see all 26):    About MalaCards
    amish lethal microcephaly    gracile syndrome    tethered spinal cord syndrome    paraneoplastic syndromes
    batten disease    microcephaly    primary biliary cirrhosis    endocarditis
    xeroderma pigmentosum    age related macular degeneration    macular degeneration    metabolic disorders
    down syndrome    glaucoma    b-cell lymphomas    neuropathy
    ischemia    schizophrenia    obesity    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

    PubMed articles for IMMT gene, integrated from 9 sources (see all 137):
    (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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2004)
    7. 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)
    8. The mitochondrial inner membrane protein mitofilin controls cristae morphology. (PubMed id 15647377)1, 9 John G.B....Zha J. (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. (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. (2013)

    External Searches for IMMT gene

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



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    About This Section

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