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Tbio
NHS
Nance-Horan syndrome protein

Protein Summary
Description
May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development. This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000380060
  • ENSP00000369400
  • ENSG00000188158
  • ENST00000398097
  • ENSP00000381170

Symbol
  • CXN
  • SCML1
  • CTRCT40
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
ligand (protein) perturbation
0.83
microRNA
0.79
cellular component
0.68
transcription factor
0.68
tissue sample
0.61


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: 45.82   (req: < 5)
Gene RIFs: 21   (req: <= 3)
Antibodies: 24   (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: 45.82   (req: >= 5)
Gene RIFs: 21   (req: > 3)
Antibodies: 24   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
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 (19)
NCKAP1
Tbio
Novelty:  0.03486454
p_int:  0.978387868
p_ni:  1.5e-8
p_wrong:  0.021612117
Data Source:  BioPlex
RAI2
Tdark
Novelty:  0.09286714
Score:  0.941
Data Source:  STRINGDB
GCNT2
Tbio
Family:  Enzyme
Novelty:  0.03945461
Score:  0.757
Data Source:  STRINGDB
CDKL5
Tchem
Family:  Kinase
Novelty:  0.00444062
Score:  0.749
Data Source:  STRINGDB
MAP4K5
Tchem
Family:  Kinase
Novelty:  0.04848162
Score:  0.568
Data Source:  STRINGDB
EFHC2
Tbio
Novelty:  0.08795794
Score:  0.561
Data Source:  STRINGDB
HMGN4
Tdark
Novelty:  0.01498794
Score:  0.522
Data Source:  STRINGDB
HMGN2
Tbio
Novelty:  0.0080343
Score:  0.512
Data Source:  STRINGDB
TRAF7
Tbio
Family:  Enzyme
Novelty:  0.02437761
Score:  0.49
Data Source:  STRINGDB
HIPK2
Tchem
Family:  Kinase
Novelty:  0.00688737
Score:  0.476
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 (9)
Find Similar Targets
Items per page:
10
1 – 7 of 7
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
HPA
Inferred from Direct Assay (IDA)
HPA
Inferred from Direct Assay (IDA)
HPA
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Disease Associations ()
No disease associations found
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
prostate specific antigen measurement
1
1
1
64
1
1
0
2.6
35
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
prostate specific antigen measurement
1
64
0
2.6
35
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
NHS actin remodeling regulator
VGNC:2691
465520
Macaque
NHS actin remodeling regulator
714180
Mouse
MGI:2684894
195727
Rat
RGD:1561818
317494
Dog
NHS actin remodeling regulator
VGNC:43804
491757
Species
Name
OMA
EggNOG
Inparanoid
Chimp
NHS actin remodeling regulator
Macaque
NHS actin remodeling regulator
Mouse
Rat
Dog
NHS actin remodeling regulator
Publication Statistics
PubMed Score 45.82
PubMed score by year
PubTator Score 108.57
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title