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Tbio
CHCHD10
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000484558
  • ENSP00000418428
  • ENSG00000250479
  • ENST00000629095
  • ENSP00000487006
  • ENSG00000273607

Symbol
  • C22orf16
  • IMMD
  • SMAJ
  • MIX17A
  • FTDALS2
  • N27C7-4
  • C22orf16
Illumination Graph
Knowledge Table
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
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

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)
RepresentationColor Scheme
AF-Q8WYQ3-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (2)
Mitochondrial protein import (R-HSA-1268020)

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)
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
Tbio
Family: TF
Novelty: 0.0181682
p_int: 0.999999992
p_wrong: 8e-9
Score: 0.345
Data Source: BioPlex,STRINGDB
ZNF579
Tdark
Family: TF
Novelty: 4.75515836
p_int: 0.999999786
p_ni: 2.13e-7
Data Source: BioPlex
RBM26
Tdark
Novelty: 0.26601554
p_int: 0.999999051
p_ni: 9.49e-7
Data Source: BioPlex
RBM27
Tdark
Novelty: 0.04875536
p_int: 0.999992115
p_ni: 0.000007885
Data Source: BioPlex
CHCHD2P9
Tdark
p_int: 0.999977397
p_ni: 0.000022603
Data Source: BioPlex
BAG1
Tbio
Novelty: 0.00285515
p_int: 0.999823879
p_ni: 0.00017611
p_wrong: 1e-8
Data Source: BioPlex
RBM23
Tbio
Novelty: 0.03769792
p_int: 0.999810582
p_ni: 0.000189417
Score: 0.193
Data Source: BioPlex,STRINGDB
ZFP91
Tbio
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
Tbio
Family: Epigenetic
Novelty: 0.05941323
p_int: 0.999643365
p_ni: 0.000355607
p_wrong: 0.000001028
Data Source: BioPlex
PRRC2A
Tbio
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
ProtVista Viewer
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