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Tbio
ALX4
Homeobox protein aristaless-like 4

Protein Summary
Description
Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation s ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000329255
  • ENSP00000332744
  • ENSG00000052850

Symbol
  • KIAA1788
  • CRS5
  • FND2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.74
microRNA
0.66
phenotype
0.64
trait
0.61
protein domain
0.58


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: 84.53   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 265   (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: 84.53   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 265   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 18
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 (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
balding measurement
2
3
4
97.1
puberty onset measurement
4
1
4
94
synophrys measurement
1
1
1
40.7
2
1
1
1.2
20.4
Alopecia
1
2
2
13.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
balding measurement
4
97.1
puberty onset measurement
4
94
synophrys measurement
1
40.7
1
1.2
20.4
Alopecia
2
13.5
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Gene Ontology Terms (20)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Sequence Alignment (ISA)
NTNU_SB
Non-traceable Author Statement (NAS)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (86)
1 – 10 of 86
GLI3
Tbio
Family: TF
Novelty: 0.00051217
Score: 0.689
Data Source: STRINGDB
TBX18
Tbio
Family: TF
Novelty: 0.01287164
Score: 0.65
Data Source: STRINGDB
LEF1
Tchem
Family: TF
Novelty: 0.00168638
Score: 0.648
Data Source: STRINGDB
HOXD13
Tbio
Family: TF
Novelty: 0.00404722
Score: 0.644
Data Source: STRINGDB
EXT2
Tbio
Family: Enzyme
Novelty: 0.00480574
Score: 0.641
Data Source: STRINGDB
ZSWIM6
Tbio
Novelty: 0.20377569
Score: 0.629
Data Source: STRINGDB
WNT11
Tbio
Novelty: 0.0045754
Score: 0.626
Data Source: STRINGDB
WNT3A
Tchem
Novelty: 0.00119275
Score: 0.616
Data Source: STRINGDB
HOXB13
Tbio
Family: TF
Novelty: 0.00644371
Score: 0.609
Data Source: STRINGDB
WNT5A
Tbio
Novelty: 0.00125563
Score: 0.603
Data Source: STRINGDB
Publication Statistics
PubMed Score  84.53

PubMed score by year
PubTator Score  49.24

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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