Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHCHD6 Gene

Aliases for CHCHD6 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 6 2 3 5
  • Coiled-Coil-Helix Cristae Morphology Protein 1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 23 2 3
  • Mic25 3 4
  • CHCM1 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 6, Mitochondrial 3
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 6 4
  • Coiled-Coil-Helix Cristae Morphology 1 2
  • Coiled Coil Helix Cristae Morphology 1 3
  • MICOS Complex Subunit MIC25 3
  • PPP1R23 3

External Ids for CHCHD6 Gene

Previous GeneCards Identifiers for CHCHD6 Gene

  • GC03P127744
  • GC03P127905
  • GC03P126423
  • GC03P123803

Summaries for CHCHD6 Gene

GeneCards Summary for CHCHD6 Gene

CHCHD6 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 6) is a Protein Coding gene. Diseases associated with CHCHD6 include Charcot-Marie-Tooth Disease, Type 2E. An important paralog of this gene is CHCHD3.

UniProtKB/Swiss-Prot for CHCHD6 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD6 Gene

Genomics for CHCHD6 Gene

Regulatory Elements for CHCHD6 Gene

Enhancers for CHCHD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F126212 1.2 Ensembl ENCODE 15 -491.0 -490995 1.6 TBP ARID4B YBX1 ZNF48 RAD21 ZNF366 ZNF207 ZNF263 MXD4 ZNF592 ENPP7P4 CHCHD6 ALDH1L1 ALG1L LOC105374086
GH03F127525 0.4 ENCODE 15 +821.4 821383 0.2 ATF1 PKNOX1 KLF17 BRCA1 RFX5 ZNF366 RCOR1 FOS CREM SP3 CHCHD6 LINC01471 ENSG00000240562
GH03F126678 0.5 Ensembl ENCODE 11.9 -24.9 -24920 1.0 CTCF MAX ZNF48 ZIC2 ZNF2 RAD21 ZFHX2 GLIS2 POLR2A ZNF143 CHCHD6 TXNRD3 TXNRD3NB LOC645852
GH03F126730 0.2 Ensembl 11.6 +27.0 26981 0.8 MAX MNT MYC SPI1 YY1 CHCHD6 GC03P126746 GC03P126709
GH03F126745 1.2 Ensembl ENCODE 11.1 +42.3 42281 1.4 ELF3 SOX13 CTCF SAP130 ZNF792 ARID4B CEBPG ZIC2 RAD21 ZNF48 CHCHD6 CHST13 GC03P126746 GC03P126709
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CHCHD6 on UCSC Golden Path with GeneCards custom track

Promoters for CHCHD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001483268 280 1801 HDGF ATF1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 ETS1 ZNF143

Genomic Location for CHCHD6 Gene

Chromosome:
3
Start:
126,704,220 bp from pter
End:
126,960,420 bp from pter
Size:
256,201 bases
Orientation:
Plus strand

Genomic View for CHCHD6 Gene

Genes around CHCHD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHCHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD6 Gene

Proteins for CHCHD6 Gene

  • Protein details for CHCHD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRQ6-MIC25_HUMAN
    Recommended name:
    MICOS complex subunit MIC25
    Protein Accession:
    Q9BRQ6
    Secondary Accessions:
    • D6R9U0
    • D6RIB4
    • H8Y0Y7

    Protein attributes for CHCHD6 Gene

    Size:
    235 amino acids
    Molecular mass:
    26458 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. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:17624330, PubMed:22228767, PubMed:25781180, PubMed:25997101). Interacts with DISC1 (PubMed:22228767). Interacts with DISC1 (PubMed:22228767). Interacts with IMMT/MIC60 (PubMed:22228767, PubMed:25997101).

neXtProt entry for CHCHD6 Gene

Post-translational modifications for CHCHD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CHCHD6 Gene

Domains & Families for CHCHD6 Gene

Protein Domains for CHCHD6 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHCHD6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRQ6

UniProtKB/Swiss-Prot:

MIC25_HUMAN :
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
  • Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic25 subfamily.
Domain:
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
Family:
  • Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic25 subfamily.
genes like me logo Genes that share domains with CHCHD6: view

Function for CHCHD6 Gene

Molecular function for CHCHD6 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.
UniProtKB/Swiss-Prot Induction:
Down-regulated following genotoxic stress.

Gene Ontology (GO) - Molecular Function for CHCHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22228767
genes like me logo Genes that share ontologies with CHCHD6: view
genes like me logo Genes that share phenotypes with CHCHD6: view

Animal Model Products

miRNA for CHCHD6 Gene

miRTarBase miRNAs that target CHCHD6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHCHD6 Gene

Localization for CHCHD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD6 Gene

Mitochondrion inner membrane; Lipid-anchor. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD6 Gene COMPARTMENTS Subcellular localization image for CHCHD6 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for CHCHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IMP 22228767
GO:0005743 mitochondrial inner membrane IEA,IDA 22228767
GO:0016020 membrane IEA --
GO:0061617 MICOS complex IEA,IDA 25781180
genes like me logo Genes that share ontologies with CHCHD6: view

Pathways & Interactions for CHCHD6 Gene

SuperPathways for CHCHD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHCHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IDA 22228767
GO:0042407 cristae formation IMP 22228767
genes like me logo Genes that share ontologies with CHCHD6: view

No data available for Pathways by source and SIGNOR curated interactions for CHCHD6 Gene

Transcripts for CHCHD6 Gene

Unigene Clusters for CHCHD6 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD6 Gene

No ASD Table

Relevant External Links for CHCHD6 Gene

GeneLoc Exon Structure for
CHCHD6
ECgene alternative splicing isoforms for
CHCHD6

Expression for CHCHD6 Gene

mRNA expression in normal human tissues for CHCHD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHCHD6 Gene

This gene is overexpressed in Frontal cortex (17.7), Platelet (10.4), and Testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHCHD6 Gene



Protein tissue co-expression partners for CHCHD6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHCHD6 Gene:

CHCHD6

SOURCE GeneReport for Unigene cluster for CHCHD6 Gene:

Hs.518119
genes like me logo Genes that share expression patterns with CHCHD6: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHCHD6 Gene

Orthologs for CHCHD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CHCHD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHCHD6 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia CHCHD6 34 35
  • 82.54 (n)
mouse
(Mus musculus)
Mammalia Chchd6 34 16 35
  • 77.87 (n)
rat
(Rattus norvegicus)
Mammalia Chchd6 34
  • 77.25 (n)
cow
(Bos Taurus)
Mammalia CHCHD6 34 35
  • 74.17 (n)
oppossum
(Monodelphis domestica)
Mammalia CHCHD6 35
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD6 34
  • 63.36 (n)
lizard
(Anolis carolinensis)
Reptilia CHCHD6 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd6 34
  • 56.13 (n)
zebrafish
(Danio rerio)
Actinopterygii chchd6a 34 35
  • 53.22 (n)
chchd6b 35
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5473 35
  • 25 (a)
OneToMany
Species where no ortholog for CHCHD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CHCHD6 Gene

ENSEMBL:
Gene Tree for CHCHD6 (if available)
TreeFam:
Gene Tree for CHCHD6 (if available)

Paralogs for CHCHD6 Gene

Paralogs for CHCHD6 Gene

(1) SIMAP similar genes for CHCHD6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CHCHD6: view

Variants for CHCHD6 Gene

Sequence variations from dbSNP and Humsavar for CHCHD6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1004003 -- 126,799,791(+) TACCA(C/T)GGCCT intron-variant
rs1006196 -- 126,903,047(-) CTTGC(C/T)CCCAA intron-variant
rs1008175 -- 126,901,171(+) AGGAA(A/G)AGCCT intron-variant
rs1014081 -- 126,781,265(+) AAGAC(A/G)GTGGA intron-variant
rs10446318 -- 126,709,713(+) tcatc(A/G)tggtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHCHD6 Gene

Variant ID Type Subtype PubMed ID
dgv8553n54 CNV loss 21841781
dgv8554n54 CNV loss 21841781
dgv8555n54 CNV gain+loss 21841781
dgv8556n54 CNV gain+loss 21841781
dgv8557n54 CNV loss 21841781
dgv8558n54 CNV loss 21841781
dgv8559n54 CNV loss 21841781
esv1002711 CNV deletion 20482838
esv1444905 CNV deletion 17803354
esv22081 CNV loss 19812545
esv2552936 CNV loss 19546169
esv2660854 CNV deletion 23128226
esv2666215 CNV deletion 23128226
esv2666675 CNV deletion 23128226
esv2725875 CNV deletion 23290073
esv2725876 CNV deletion 23290073
esv2725877 CNV deletion 23290073
esv2725878 CNV deletion 23290073
esv2725879 CNV deletion 23290073
esv2725880 CNV deletion 23290073
esv2725881 CNV deletion 23290073
esv3304233 CNV mobile element insertion 20981092
esv33263 CNV gain 17666407
esv3434631 CNV insertion 20981092
esv3562511 CNV deletion 23714750
esv3597685 CNV loss 21293372
esv3597687 CNV loss 21293372
esv3597688 CNV loss 21293372
esv3597689 CNV loss 21293372
esv3701 CNV loss 18987735
nsv1001475 CNV loss 25217958
nsv1073245 CNV deletion 25765185
nsv1144999 CNV deletion 24896259
nsv1149407 CNV duplication 26484159
nsv1152506 CNV deletion 26484159
nsv237087 CNV deletion 16902084
nsv3986 CNV insertion 18451855
nsv460846 CNV loss 19166990
nsv474950 CNV novel sequence insertion 20440878
nsv511217 CNV loss 21212237
nsv526947 CNV loss 19592680
nsv591525 CNV loss 21841781
nsv591527 CNV gain 21841781
nsv821409 CNV deletion 20802225
nsv829718 CNV gain 17160897
nsv829719 CNV gain 17160897
nsv955339 CNV deletion 24416366
nsv967061 CNV duplication 23825009

Variation tolerance for CHCHD6 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.02; 90.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHCHD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD6 Gene

Disorders for CHCHD6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CHCHD6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease type 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHCHD6

Genetic Association Database (GAD)
CHCHD6
Human Genome Epidemiology (HuGE) Navigator
CHCHD6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD6
genes like me logo Genes that share disorders with CHCHD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHCHD6 Gene

Publications for CHCHD6 Gene

  1. CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. (PMID: 22228767) An J. … Sheikh M.S. (J. Biol. Chem. 2012) 2 3 4 64
  2. 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. (PMID: 17624330) Xie J. … Capaldi R.A. (FEBS Lett. 2007) 2 3 4 64
  3. 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 64
  4. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V. … Harper J.W. (Elife 2015) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for CHCHD6 Gene

Sources for CHCHD6 Gene

Content
Loading form....