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Tbio
TMCO1
Calcium load-activated calcium channel

Protein Summary
Description
Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239). This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000392129
  • ENSP00000375975
  • ENSG00000143183

Symbol
  • TMCC4
  • PCIA3
  • TMCC4
  • HP10122
  • PNAS-136
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
1
transcription factor binding site profile
0.93
histone modification site profile
0.9
kinase perturbation
0.66
tissue sample
0.62


Protein Classes
No PANTHER Classes or DTO Classes found
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: 25.71   (req: < 5)
Gene RIFs: 10   (req: <= 3)
Antibodies: 50   (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: 25.71   (req: >= 5)
Gene RIFs: 10   (req: > 3)
Antibodies: 50   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for 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
Thumbnail image for 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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (79)
HSD17B12
Tbio
Family:  Enzyme
Novelty:  0.02200219
Score:  0.87
Data Source:  STRINGDB
UQCRQ
Tbio
Novelty:  0.04392627
Score:  0.864
Data Source:  STRINGDB
SSR3
Tbio
Novelty:  0.05838475
Score:  0.859
Data Source:  STRINGDB
AFG3L2
Tbio
Family:  Enzyme
Novelty:  0.01770465
Score:  0.843
Data Source:  STRINGDB
PPP2R1A
Tbio
Family:  Enzyme
Novelty:  0.01134139
Score:  0.83
Data Source:  STRINGDB
CYC1
Tchem
Novelty:  0.01369865
Score:  0.826
Data Source:  STRINGDB
ATP1A1
Tclin
Family:  Transporter
Novelty:  0.01078788
Score:  0.819
Data Source:  STRINGDB
SLC25A3
Tbio
Family:  Transporter
Novelty:  0.00530277
Score:  0.812
Data Source:  STRINGDB
EMC4
Tbio
Novelty:  0.12174476
Score:  0.783
Data Source:  STRINGDB
CDKN2B
Tbio
Family:  Enzyme
Novelty:  0.00166614
Score:  0.734
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intraocular pressure measurement
9
8
13
99
4
3
0
1.4
95.7
4
3
0
1.4
94.5
Antiglaucoma preparations and miotics use measurement
1
1
1
82.3
2
1
0
1.2
61.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intraocular pressure measurement
13
99
0
1.4
95.7
0
1.4
94.5
Antiglaucoma preparations and miotics use measurement
1
82.3
0
1.2
61.4
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
transmembrane and coiled-coil domains 1
VGNC:10932
469565
Macaque
transmembrane and coiled-coil domains 1
698272
Mouse
MGI:1921173
68944
Rat
RGD:1359178
289196
Dog
transmembrane and coiled-coil domains 1
VGNC:47431
478992
Species
Name
OMA
EggNOG
Inparanoid
Chimp
transmembrane and coiled-coil domains 1
Macaque
transmembrane and coiled-coil domains 1
Mouse
Rat
Dog
transmembrane and coiled-coil domains 1
Publication Statistics
PubMed Score 25.71
PubMed score by year
PubTator Score 12.70
PubTator score by year
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Related Publications
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PMID
Year
Title