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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


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: 73.18   (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: 73.18   (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
Gene Ontology Terms (9)
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
Protein-Protein Interactions (19)
1 – 10 of 19
NCKAP1
Tbio
Novelty: 0.06198423
p_int: 0.978387868
p_ni: 1.5e-8
p_wrong: 0.021612117
Data Source: BioPlex
RAI2
Tdark
Novelty: 0.05992296
Score: 0.941
Data Source: STRINGDB
GCNT2
Tbio
Family: Enzyme
Novelty: 0.01242676
Score: 0.757
Data Source: STRINGDB
CDKL5
Tchem
Family: Kinase
Novelty: 0.00566067
Score: 0.749
Data Source: STRINGDB
MAP4K5
Tchem
Family: Kinase
Novelty: 0.0165118
Score: 0.568
Data Source: STRINGDB
EFHC2
Tbio
Novelty: 0.12433393
Score: 0.561
Data Source: STRINGDB
HMGN4
Tdark
Novelty: 0.05405405
Score: 0.522
Data Source: STRINGDB
HMGN2
Tbio
Novelty: 0.00838447
Score: 0.512
Data Source: STRINGDB
TRAF7
Tbio
Family: Enzyme
Novelty: 0.05310289
Score: 0.49
Data Source: STRINGDB
HIPK2
Tchem
Family: Kinase
Novelty: 0.00813069
Score: 0.476
Data Source: STRINGDB
Publication Statistics
PubMed Score  73.18

PubMed score by year
PubTator Score  108.57

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