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Tbio
FAM126A
Hyccin

Protein Summary
Description
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable). The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000409923
  • ENSP00000386246
  • ENSG00000122591
  • ENST00000432176
  • ENSP00000403396

Symbol
  • DRCTNNB1A
  • HCC
  • HLD5
  • HYCC1
  • DRCTNNB1A
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
microRNA
0.87
transcription factor binding site profile
0.84
transcription factor perturbation
0.84
gene perturbation
0.76
transcription factor
0.63


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: 105.43   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 60   (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: 105.43   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 60   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
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 (30)
RGS20
Tbio
Novelty:  0.04087618
p_int:  0.999986272
p_ni:  0.000013725
p_wrong:  3e-9
Data Source:  BioPlex
GC
Tchem
Novelty:  0.00065382
p_int:  0.999764407
p_ni:  0.000235585
p_wrong:  8e-9
Score:  0.691
Data Source:  BioPlex,STRINGDB
C2orf50
Tdark
p_int:  0.999623468
p_ni:  0.000136225
p_wrong:  0.000240307
Data Source:  BioPlex
RPGR
Tbio
Family:  Enzyme
Novelty:  0.002733
p_int:  0.998946778
p_ni:  0.001053008
p_wrong:  2.14e-7
Score:  0.564
Data Source:  BioPlex,STRINGDB
LPAR6
Tchem
Family:  GPCR
Novelty:  0.01801122
p_int:  0.995413311
p_ni:  0.002861509
p_wrong:  0.001725179
Score:  0.159
Data Source:  BioPlex,STRINGDB
P2RX5
Tchem
Family:  IC
Novelty:  0.01591178
p_int:  0.994979753
p_ni:  0.003531591
p_wrong:  0.001488656
Score:  0.177
Data Source:  BioPlex,STRINGDB
SHPK
Tbio
Family:  Kinase
Novelty:  0.16166855
p_int:  0.965100916
p_ni:  0.034899084
Score:  0.817
Data Source:  BioPlex,STRINGDB
NR2F2
Tchem
Family:  NR
Novelty:  0.00450561
p_int:  0.754098266
p_ni:  0.245901338
p_wrong:  3.96e-7
Score:  0.725
Data Source:  BioPlex,STRINGDB
TTC7B
Tbio
Novelty:  0.22257455
Score:  0.946
Data Source:  STRINGDB
PI4KA
Tchem
Family:  Kinase
Novelty:  0.01701469
Score:  0.835
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
Gene Ontology Terms (6)
Find Similar Targets
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Disease Associations (null)
No disease associations found
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
C-reactive protein measurement
2
2
2
82.6
fibrinogen measurement
3
3
3
66.1
soluble triggering receptor expressed on myeloid cells 2 measurement
1
1
0
15744.7
56.1
Parkinson disease
1
1
0
1.1
13
blood protein measurement
1
1
1
10.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
C-reactive protein measurement
2
82.6
fibrinogen measurement
3
66.1
soluble triggering receptor expressed on myeloid cells 2 measurement
0
15744.7
56.1
Parkinson disease
0
1.1
13
blood protein measurement
1
10.1
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
family with sequence similarity 126 member A
VGNC:4344
472310
Macaque
family with sequence similarity 126 member A
705467
Mouse
MGI:2149839
84652
Rat
RGD:1562906
499975
Dog
family with sequence similarity 126 member A
VGNC:40587
475254
Species
Name
OMA
EggNOG
Inparanoid
Chimp
family with sequence similarity 126 member A
Macaque
family with sequence similarity 126 member A
Mouse
Rat
Dog
family with sequence similarity 126 member A
Publication Statistics
PubMed Score 105.43
PubMed score by year
PubTator Score 10.54
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title