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Tbio
PITX2
Pituitary homeobox 2

Protein Summary
Description
Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity). This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000306732
  • ENSP00000304169
  • ENSG00000164093
  • ENST00000354925
  • ENSP00000347004
  • ENST00000355080
  • ENSP00000347192
  • ENST00000394595
  • ENSP00000378095
  • ENST00000394598
  • ENSP00000378097
  • ENST00000613094
  • ENSP00000484763
  • ENST00000614423
  • ENSP00000481951
  • ENST00000616641
  • ENSP00000484909
  • ENST00000644743
  • ENSP00000495061

Symbol
  • ARP1
  • RGS
  • RIEG
  • RIEG1
  • RS
  • RGS
  • ARP1
  • Brx1
  • IDG2
  • IGDS
  • IHG2
  • PTX2
  • RIEG
  • ASGD4
  • IGDS2
  • IRID2
  • Otlx2
  • RIEG1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.99
molecular function
0.99
hub protein
0.98
PubMedID
0.88
transcription factor
0.83


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: 505.16   (req: < 5)
Gene RIFs: 135   (req: <= 3)
Antibodies: 269   (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: 505.16   (req: >= 5)
Gene RIFs: 135   (req: > 3)
Antibodies: 269   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31
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 (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
12
15
0
1.5
100
Ischemic stroke
3
3
0
1.4
96.3
cardiac embolism
2
2
0
1.4
95.7
stroke
2
2
0
1.2
77.5
cardioembolic stroke
5
1
0
1.2
39.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.5
100
Ischemic stroke
0
1.4
96.3
cardiac embolism
0
1.4
95.7
stroke
0
1.2
77.5
cardioembolic stroke
0
1.2
39.9
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
paired like homeodomain 2
VGNC:12956
461438
Macaque
paired like homeodomain 2
699737
Mouse
MGI:109340
18741
Rat
RGD:3331
54284
Dog
paired like homeodomain 2
VGNC:44590
487902
Species
Name
OMA
EggNOG
Inparanoid
Chimp
paired like homeodomain 2
Macaque
paired like homeodomain 2
Mouse
Rat
Dog
paired like homeodomain 2
Protein Structure (3 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q99697-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (37)
Gene expression (Transcription) (R-HSA-74160)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
RNA Polymerase II Transcription
Reactome
TFAP2 (AP-2) family regulates transcription of other transcription factors
Reactome
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Name
Explore in Pharos
Explore in Source
Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription
TFAP2 (AP-2) family regulates transcription of other transcription factors
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Gene Ontology Terms (34)
Items per page:
10
1 – 10 of 14
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (150)
1 – 10 of 150
AHCYL2
Tbio
Family: Enzyme
Novelty: 0.08695339
p_int: 0.999799889
p_ni: 0.000200111
Score: 0.303
Data Source: BioPlex,STRINGDB
LRRC46
Tdark
Novelty: 1.159245
p_int: 0.995451646
p_ni: 0.004397955
p_wrong: 0.0001504
Score: 0.188
Data Source: BioPlex,STRINGDB
AHCYL1
Tchem
Family: Enzyme
Novelty: 0.02176432
p_int: 0.990644738
p_ni: 0.009223666
p_wrong: 0.000131597
Score: 0.787
Data Source: BioPlex,STRINGDB
IER2
Tbio
Novelty: 0.03864806
p_int: 0.99046107
p_ni: 4.17e-7
p_wrong: 0.009538513
Score: 0.193
Data Source: BioPlex,STRINGDB
LEF1
Tchem
Family: TF
Novelty: 0.00168638
Score: 0.982
Data Source: STRINGDB
CTNNB1
Tchem
Novelty: 0.0000744
Score: 0.981
Data Source: STRINGDB
PITX3
Tbio
Family: TF
Novelty: 0.00579075
Score: 0.963
Data Source: STRINGDB
KAT5
Tchem
Family: Epigenetic
Novelty: 0.00368348
Score: 0.946
Data Source: STRINGDB
TFAP2A
Tbio
Family: TF
Novelty: 0.00235655
Score: 0.944
Data Source: STRINGDB
CITED2
Tbio
Novelty: 0.01028104
Score: 0.94
Data Source: STRINGDB
Publication Statistics
PubMed Score  505.16

PubMed score by year
PubTator Score  512.42

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