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Tbio
FAM83H
Protein FAM83H

Protein Summary
Description
May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688). The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000388913
  • ENSP00000373565
  • ENSG00000180921
  • ENST00000612192
  • ENSP00000478790
  • ENSG00000273889

Symbol
  • AI3
  • AI3A
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
drug perturbation
0.99
transcription factor perturbation
0.8
interacting protein
0.78
tissue sample
0.61
transcription factor binding site profile
0.56


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: 50.66   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 35   (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: 50.66   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 35   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
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 (78)
UNC45A
Tbio
Novelty:  0.07503761
p_int:  0.999653573
p_ni:  0.000346427
Score:  0.354
Data Source:  BioPlex,STRINGDB
NCK1
Tbio
Novelty:  0.00352084
p_int:  0.999596294
p_ni:  0.000403706
Data Source:  BioPlex
C6orf141
Tdark
Novelty:  1.46022784
p_int:  0.999236701
p_ni:  0.000763299
Data Source:  BioPlex
TSGA10IP
Tdark
Novelty:  20.75428866
p_int:  0.994740626
p_ni:  0.005259366
p_wrong:  9e-9
Data Source:  BioPlex
TIAL1
Tbio
Novelty:  0.01126806
p_int:  0.994651125
p_ni:  0.005348875
Score:  0.198
Data Source:  BioPlex,STRINGDB
HSPB8
Tbio
Novelty:  0.00298618
p_int:  0.993780754
p_ni:  0.006219246
Data Source:  BioPlex
SKP2
Tbio
Family:  Enzyme
Novelty:  0.00182658
p_int:  0.993326047
p_ni:  0.006673953
Data Source:  BioPlex
TEX45
Tdark
Novelty:  5.55785981
p_int:  0.993240905
p_ni:  0.006759095
Data Source:  BioPlex
SEC23B
Tbio
Novelty:  0.02307622
p_int:  0.988693868
p_ni:  0.011306127
p_wrong:  5e-9
Data Source:  BioPlex
CSNK1D
Tchem
Family:  Kinase
Novelty:  0.00896935
p_int:  0.988626867
p_ni:  0.011373133
Score:  0.351
Data Source:  BioPlex,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 (null)
No disease associations found
GWAS Traits (6)
Items per page:
1 – 5 of 6
GWAS Trait
EFO ID
ENSG ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
age at menarche
1
1
1
24.5
age at menarche
1
1
1
24.5
appendicular lean mass
1
1
1
21.5
appendicular lean mass
1
1
1
21.5
diastolic blood pressure
1
1
1
15.8
Items per page:
1 – 5 of 6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
age at menarche
1
24.5
age at menarche
1
24.5
appendicular lean mass
1
21.5
appendicular lean mass
1
21.5
diastolic blood pressure
1
15.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
family with sequence similarity 83 member H
VGNC:12007
464449
Macaque
family with sequence similarity 83 member H
698513
Mouse
MGI:2145900
105732
Rat
RGD:1305866
362937
Dog
family with sequence similarity 83 member H
VGNC:40705
482081
Species
Name
OMA
EggNOG
Inparanoid
Chimp
family with sequence similarity 83 member H
Macaque
family with sequence similarity 83 member H
Mouse
Rat
Dog
family with sequence similarity 83 member H
Publication Statistics
PubMed Score 50.66
PubMed score by year
PubTator Score 36.21
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title