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Aliases for IMMT Gene

Aliases for IMMT Gene

  • Inner Membrane Mitochondrial Protein 2 3 5
  • Mitofilin 2 3 4
  • Mitochondrial Inner Membrane Organizing System 2 2 3
  • Cell Proliferation-Inducing Gene 4/52 Protein 3 4
  • Mitochondrial Inner Membrane Protein 3 4
  • P87/89 3 4
  • MINOS2 3 4
  • Mic60 3 4
  • HMP 3 4
  • Inner Membrane Protein, Mitochondrial (Mitofilin) 2
  • Cell Proliferation-Inducing Protein 52 3
  • Proliferation-Inducing Gene 4 3
  • MICOS Complex Subunit MIC60 3
  • Motor Protein 3
  • PIG52 3
  • PIG4 3
  • P87 3
  • P89 3

External Ids for IMMT Gene

Previous GeneCards Identifiers for IMMT Gene

  • GC02M086266
  • GC02M086665
  • GC02M086345
  • GC02M086282

Summaries for IMMT Gene

GeneCards Summary for IMMT Gene

IMMT (Inner Membrane Mitochondrial Protein) is a Protein Coding gene. Diseases associated with IMMT include Gracile Syndrome and Melanoma-Associated Retinopathy.

UniProtKB/Swiss-Prot for IMMT Gene

  • Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:22114354, PubMed:25781180).

Gene Wiki entry for IMMT Gene

Additional gene information for IMMT Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMMT Gene

Genomics for IMMT Gene

GeneHancer (GH) Regulatory Elements for IMMT Gene

Promoters and enhancers for IMMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I086193 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 581.6 +0.3 322 3.9 ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 IMMT ENSG00000273080 GC02P086196 LOC102724642 SNORD94 LOC100420889 ENSG00000231259 USP39 KDM3A LOC105374845
GH02I086198 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 28.7 -3.8 -3831 2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 DEK SP3 MRPL35 IMMT LOC102724642 ENSG00000251974 ENSG00000202537 SNORD94 POLR1A GC02M086172
GH02I086222 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 36.1 -28.7 -28672 4 HDGF CTCF MXI1 EBF1 ZIC2 RAD21 IRF4 ZFHX2 POLR2A SCRT2 GC02M086172 MRPL35 IMMT POLR1A REEP1 ENSG00000251974 ENSG00000202537 ENSG00000273080 RNF103 RMND5A
GH02I085993 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.9 +198.4 198408 8.1 HDGF PKNOX1 ARNT YBX1 IRF4 ZNF766 E2F8 ZNF207 ZNF143 JUNB LOC105374843 IMMT LOC284950 ATOH8 POLR1A GC02M085981 GC02P085952 GC02P085883
GH02I086016 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.8 +178.5 178479 2.6 HDAC1 HDGF FOS ATF7 IKZF2 SMARCA5 CEBPB ZNF592 ZNF217 NFIC IMMT POLR1A PIR60755 LOC105374843 GC02P085952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IMMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IMMT gene promoter:

Genomic Locations for IMMT Gene

Genomic Locations for IMMT Gene
chr2:86,143,932-86,195,770
(GRCh38/hg38)
Size:
51,839 bases
Orientation:
Minus strand
chr2:86,371,055-86,422,893
(GRCh37/hg19)

Genomic View for IMMT Gene

Genes around IMMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMMT Gene

Proteins for IMMT Gene

  • Protein details for IMMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16891-MIC60_HUMAN
    Recommended name:
    MICOS complex subunit MIC60
    Protein Accession:
    Q16891
    Secondary Accessions:
    • B1H0U5
    • B2R5N6
    • Q14539
    • Q15092
    • Q68D41
    • Q69HW5
    • Q6IBL0
    • Q7Z3X1
    • Q8TAJ5
    • Q9P0V2

    Protein attributes for IMMT Gene

    Size:
    758 amino acids
    Molecular mass:
    83678 Da
    Quaternary structure:
    • Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13 (PubMed:25764979, PubMed:25781180). This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25764979, PubMed:25781180). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex (PubMed:22252321). Interacts with HSPA1A/HSPA1B and OPA1, preferentially with the soluble OPA1 form (By similarity). Interacts with QIL1/MIC13, MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, SAMM50 and TMEM11 (PubMed:25997101). Interacts with APOO/MIC23/MIC26 and APOOL/MIC27 (PubMed:25764979, PubMed:25781180).
    SequenceCaution:
    • Sequence=CAH18389.1; Type=Erroneous termination; Positions=759; Note=Translated as stop.; Evidence={ECO:0000305};

    Alternative splice isoforms for IMMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IMMT Gene

Post-translational modifications for IMMT Gene

  • Ubiquitination at isoforms=2, 3, 4102, posLast=110110, and posLast=451451
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IMMT Gene

Domains & Families for IMMT Gene

Gene Families for IMMT Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IMMT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IMMT Gene

Graphical View of Domain Structure for InterPro Entry

Q16891

UniProtKB/Swiss-Prot:

MIC60_HUMAN :
  • Belongs to the MICOS complex subunit Mic60 family.
Family:
  • Belongs to the MICOS complex subunit Mic60 family.
genes like me logo Genes that share domains with IMMT: view

Function for IMMT Gene

Molecular function for IMMT Gene

UniProtKB/Swiss-Prot Function:
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:22114354, PubMed:25781180).

Gene Ontology (GO) - Molecular Function for IMMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with IMMT: view

Phenotypes for IMMT Gene

GenomeRNAi human phenotypes for IMMT:
genes like me logo Genes that share phenotypes with IMMT: view

Animal Model Products

CRISPR Products

miRNA for IMMT Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IMMT Gene

Localization for IMMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMMT Gene

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMMT gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IMMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 25781180
GO:0005743 mitochondrial inner membrane IEA,IDA 9168817
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with IMMT: view

Pathways & Interactions for IMMT Gene

No Data Available

Gene Ontology (GO) - Biological Process for IMMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042407 cristae formation IMP 25781180
GO:0051560 mitochondrial calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with IMMT: view

No data available for Pathways by source and SIGNOR curated interactions for IMMT Gene

Drugs & Compounds for IMMT Gene

(4) Drugs for IMMT Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IMMT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IMMT: view

Transcripts for IMMT Gene

Unigene Clusters for IMMT Gene

Inner membrane protein, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IMMT Gene

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: - - - - - - -
SP6: - - - - - - - - - - - - - - - - -
SP7: - - - -
SP8: - - - - - -
SP9: - - - - -
SP10: - - - -
SP11: - - - - - - - - - - -
SP12: - - -
SP13:
SP14: - - - - - - - - - -
SP15: - - -

ExUns: 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for IMMT Gene

GeneLoc Exon Structure for
IMMT
ECgene alternative splicing isoforms for
IMMT

Expression for IMMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IMMT Gene

mRNA differential expression in normal tissues according to GTEx for IMMT Gene

This gene is overexpressed in Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for IMMT Gene

This gene is overexpressed in Brain (6.4) and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IMMT Gene



Protein tissue co-expression partners for IMMT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IMMT Gene:

IMMT

SOURCE GeneReport for Unigene cluster for IMMT Gene:

Hs.148559

Evidence on tissue expression from TISSUES for IMMT Gene

  • Nervous system(5)
  • Liver(4.7)
  • Intestine(4.5)
  • Muscle(4.5)
  • Kidney(3.7)
  • Lung(3.3)
  • Skin(3.3)
  • Blood(2.8)
  • Heart(2.6)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with IMMT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMMT Gene

Orthologs for IMMT Gene

This gene was present in the common ancestor of animals.

Orthologs for IMMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMMT 33 34
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia IMMT 33 34
  • 91.78 (n)
cow
(Bos Taurus)
Mammalia IMMT 33 34
  • 88.38 (n)
mouse
(Mus musculus)
Mammalia Immt 33 16 34
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Immt 33
  • 86.37 (n)
oppossum
(Monodelphis domestica)
Mammalia IMMT 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMMT 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves IMMT 33 34
  • 73.94 (n)
lizard
(Anolis carolinensis)
Reptilia IMMT 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia immt 33
  • 66.22 (n)
Str.11537 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8878 33
zebrafish
(Danio rerio)
Actinopterygii immt 33 34
  • 62.67 (n)
wufd16e04 33
fruit fly
(Drosophila melanogaster)
Insecta CG6455 33 34
  • 45.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002364 33
  • 43.22 (n)
worm
(Caenorhabditis elegans)
Secernentea immt-1 33 34
  • 45.17 (n)
T14G11.3 35
  • 27 (a)
W06H3.1 35
  • 26 (a)
immt-2 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5015 34
  • 35 (a)
OneToOne
Species where no ortholog for IMMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IMMT Gene

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

Paralogs for IMMT Gene

Pseudogenes.org Pseudogenes for IMMT Gene

genes like me logo Genes that share paralogs with IMMT: view

No data available for Paralogs for IMMT Gene

Variants for IMMT Gene

Sequence variations from dbSNP and Humsavar for IMMT Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000118306 -- 86,168,503(-) G/C intron_variant
rs1000142664 -- 86,155,116(-) G/T intron_variant
rs1000178117 -- 86,174,260(-) T/A intron_variant
rs1000277265 -- 86,161,450(-) G/A intron_variant
rs1000367639 -- 86,175,491(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IMMT Gene

Variant ID Type Subtype PubMed ID
dgv3885n100 CNV gain 25217958
dgv6946n54 CNV gain 21841781
dgv712e214 CNV gain 21293372
dgv713e214 CNV gain 21293372
esv2720300 CNV deletion 23290073
esv2751903 CNV gain 17911159
esv3591540 CNV gain 21293372
esv3591543 CNV loss 21293372
esv3591544 CNV loss 21293372
esv3591545 CNV gain 21293372
nsv458563 CNV gain 19166990
nsv458574 CNV gain 19166990
nsv582372 CNV gain 21841781

Variation tolerance for IMMT Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.71; 93.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IMMT Gene

Human Gene Mutation Database (HGMD)
IMMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMMT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMMT Gene

Disorders for IMMT Gene

MalaCards: The human disease database

(9) MalaCards diseases for IMMT Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gracile syndrome
  • growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
melanoma-associated retinopathy
paraneoplastic syndromes
anemia, nonspherocytic hemolytic, due to g6pd deficiency
  • favism
ornithosis
  • psittacosis
- elite association - COSMIC cancer census association via MalaCards
Search IMMT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IMMT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IMMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IMMT Gene

Publications for IMMT Gene

  1. Mitofilin is a transmembrane protein of the inner mitochondrial membrane expressed as two isoforms. (PMID: 9168817) Gieffers C … Frey J (Experimental cell research 1997) 2 3 4 22 58
  2. A novel human gene that is preferentially transcribed in heart muscle. (PMID: 8039717) Icho T … Tsuchida N (Gene 1994) 2 3 4 58
  3. The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions. (PMID: 25764979) Koob S … Reichert AS (Biochimica et biophysica acta 2015) 3 4 58
  4. Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits. (PMID: 25781180) Ott C … Kozjak-Pavlovic V (PloS one 2015) 3 4 58
  5. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4 58

Products for IMMT Gene

Sources for IMMT Gene

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