CHCHD10
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
Protein Summary
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure. This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
- ENST00000484558
- ENSP00000418428
- ENSG00000250479
- ENST00000629095
- ENSP00000487006
- ENSG00000273607
- C22orf16
- IMMD
- SMAJ
- MIX17A
- FTDALS2
- N27C7-4
- C22orf16
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
transcription factor perturbation | 1 | ||
small molecule perturbation | 0.98 | ||
cell type or tissue | 0.74 | ||
biological process | 0.7 | ||
transcription factor binding site profile | 0.7 | ||
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 69.26 (req: < 5)
Gene RIFs: 28 (req: <= 3)
Antibodies: 73 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 69.26 (req: >= 5)
Gene RIFs: 28 (req: > 3)
Antibodies: 73 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
GWAS Traits (4)
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | ENSG ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|---|
monocyte count | 1 | 1 | 1 | 15.7 | ||||||
lymphocyte count | 1 | 1 | 1 | 15.7 | ||||||
lymphocyte count | 1 | 1 | 1 | 15.7 | ||||||
monocyte count | 1 | 1 | 1 | 15.7 | ||||||
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
monocyte count | 1 | 15.7 | |||||
lymphocyte count | 1 | 15.7 | |||||
lymphocyte count | 1 | 15.7 | |||||
monocyte count | 1 | 15.7 | |||||
Orthologs (8)
1 – 5 of 8
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Mouse | MGI:2143558 | 103172 | ||||||
Rat | RGD:1359417 | 361824 | ||||||
Dog | coiled-coil-helix-coiled-coil-helix domain containing 10 | VGNC:39194 | 477560 | |||||
Cow | coiled-coil-helix-coiled-coil-helix domain containing 10 | VGNC:27271 | 615846 | |||||
Pig | coiled-coil-helix-coiled-coil-helix domain containing 10 | 100152325 | ||||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Mouse | ||||||
Rat | ||||||
Dog | coiled-coil-helix-coiled-coil-helix domain containing 10 | |||||
Cow | coiled-coil-helix-coiled-coil-helix domain containing 10 | |||||
Pig | coiled-coil-helix-coiled-coil-helix domain containing 10 | |||||
Protein Structure (0 Structures, 1 AlphaFold Model)
Pathways (2)
Reactome (2)
Click on a row in the table to change the structure displayed.
Items per page:
1 – 2 of 2
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Mitochondrial protein import | ||||
Reactome | Protein localization | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Mitochondrial protein import | ||||
Protein localization | ||||
Gene Ontology Terms (16)
Components (4)
Processes (12)
Items per page:
10
1 – 4 of 4
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Protein-Protein Interactions (103)
1 – 10 of 103
BNC2
Family: TF
Novelty: 0.0181682
p_int: 0.999999992
p_wrong: 8e-9
Score: 0.345
Data Source: BioPlex,STRINGDB
ZNF579
Family: TF
Novelty: 4.75515836
p_int: 0.999999786
p_ni: 2.13e-7
Data Source: BioPlex
RBM26
Novelty: 0.26601554
p_int: 0.999999051
p_ni: 9.49e-7
Data Source: BioPlex
RBM27
Novelty: 0.04875536
p_int: 0.999992115
p_ni: 0.000007885
Data Source: BioPlex
CHCHD2P9
p_int: 0.999977397
p_ni: 0.000022603
Data Source: BioPlex
BAG1
Novelty: 0.00285515
p_int: 0.999823879
p_ni: 0.00017611
p_wrong: 1e-8
Data Source: BioPlex
RBM23
Novelty: 0.03769792
p_int: 0.999810582
p_ni: 0.000189417
Score: 0.193
Data Source: BioPlex,STRINGDB
ZFP91
Family: TF
Novelty: 0.06937322
p_int: 0.999759755
p_ni: 0.000240148
p_wrong: 9.7e-8
Score: 0.222
Data Source: BioPlex,STRINGDB
PHF10
Family: Epigenetic
Novelty: 0.05941323
p_int: 0.999643365
p_ni: 0.000355607
p_wrong: 0.000001028
Data Source: BioPlex
PRRC2A
Novelty: 0.01493149
p_int: 0.999640317
p_ni: 0.000359682
p_wrong: 1e-9
Data Source: BioPlex
Publication Statistics
PubMed Score 69.26
PubMed score by year
PubTator Score 43.11
PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
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