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Tbio
RTTN
Rotatin

Protein Summary
Description
Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2. This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000255674
  • ENSP00000255674
  • ENSG00000176225
  • ENST00000640769
  • ENSP00000491507

Symbol
  • MSSP
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.89
transcription factor binding site profile
0.89
virus perturbation
0.83
cell line
0.71
gene perturbation
0.65


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: 24.87   (req: < 5)
Gene RIFs: 8   (req: <= 3)
Antibodies: 21   (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: 24.87   (req: >= 5)
Gene RIFs: 8   (req: > 3)
Antibodies: 21   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
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 (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
2
2
2
70.1
mean reticulocyte volume
1
2
2
53.2
hypopharynx cancer
1
1
0
4
46.3
1
1
0
4
46.3
platelet crit
1
1
1
33.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
2
70.1
mean reticulocyte volume
2
53.2
hypopharynx cancer
0
4
46.3
0
4
46.3
platelet crit
1
33.2
Gene Ontology Terms (7)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (124)
1 – 10 of 124
OPALIN
Tdark
Novelty: 0.08221612
p_int: 0.999921894
p_ni: 0.000002525
p_wrong: 0.000075581
Data Source: BioPlex
CCDC178
Tdark
Novelty: 0.59356582
Score: 0.826
Data Source: STRINGDB
CCDC102B
Tdark
Novelty: 0.28075569
Score: 0.818
Data Source: STRINGDB
DOK6
Tbio
Novelty: 0.21994885
Score: 0.717
Data Source: STRINGDB
L3MBTL4
Tbio
Family: TF; Epigenetic
Novelty: 0.1892631
Score: 0.714
Data Source: STRINGDB
DTNA
Tbio
Novelty: 0.01165754
Score: 0.683
Data Source: STRINGDB
CEP135
Tbio
Novelty: 0.03507768
Score: 0.677
Data Source: STRINGDB
CD226
Tbio
Novelty: 0.00374102
Score: 0.668
Data Source: STRINGDB
CENPJ
Tbio
Novelty: 0.01337231
Score: 0.659
Data Source: STRINGDB
DNAH11
Tbio
Novelty: 0.02448234
Score: 0.649
Data Source: STRINGDB
Publication Statistics
PubMed Score  24.87

PubMed score by year
PubTator Score  8.69

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