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Tbio
TMEM231
Transmembrane protein 231

Protein Summary
Description
Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000258173
  • ENSP00000258173
  • ENSG00000205084
  • ENST00000568377
  • ENSP00000476267

Symbol
  • MKS11
  • JBTS20
  • ALYE870
  • PRO1886
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
phenotype
0.64
virus perturbation
0.59
tissue
0.58
disease perturbation
0.56
transcription factor binding site profile
0.56


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.
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: 6.67   (req: < 5)
Gene RIFs: 4   (req: <= 3)
Antibodies: 46   (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: 6.67   (req: >= 5)
Gene RIFs: 4   (req: > 3)
Antibodies: 46   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
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 (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
platelet crit
1
1
1
74.4
platelet count
1
1
1
64.9
Dupuytren Contracture
1
1
0
1.1
38.8
Diarrhea
1
1
0
4.2
33.1
response to darapladib
1
1
0
4.2
33.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
platelet crit
1
74.4
platelet count
1
64.9
Dupuytren Contracture
0
1.1
38.8
Diarrhea
0
4.2
33.1
response to darapladib
0
4.2
33.1
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
transmembrane protein 231
711744
Mouse
MGI:2685024
234740
Rat
RGD:1306153
361410
Dog
transmembrane protein 231
479647
Cow
transmembrane protein 231
VGNC:52257
511832
Species
Name
OMA
EggNOG
Inparanoid
Macaque
transmembrane protein 231
Mouse
Rat
Dog
transmembrane protein 231
Cow
transmembrane protein 231
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9H6L2-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (2)
Items per page:
1 – 2 of 2
Data Source
Name
Explore in Pharos
Explore in Source
WikiPathways
Genes related to primary cilium development (based on CRISPR)
WikiPathways
Joubert Syndrome
Name
Explore in Pharos
Explore in Source
Genes related to primary cilium development (based on CRISPR)
Joubert Syndrome
Gene Ontology Terms (12)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (75)
1 – 10 of 75
TCTN2
Tbio
Novelty:  0.11617528
p_int:  0.99999996
p_ni:  4e-8
Score:  0.943
Data Source:  BioPlex,STRINGDB
B9D1
Tbio
Novelty:  0.11567839
p_int:  0.999998824
p_ni:  8.72e-7
p_wrong:  3.04e-7
Score:  0.984
Data Source:  BioPlex,STRINGDB
TCTN1
Tbio
Novelty:  0.0657704
p_int:  0.999948231
p_ni:  0.000051769
Score:  0.967
Data Source:  BioPlex,STRINGDB
PI4K2A
Tbio
Family:  Kinase
Novelty:  0.03506675
p_int:  0.999826597
p_ni:  0.000173398
p_wrong:  5e-9
Score:  0.163
Data Source:  BioPlex,STRINGDB
BTNL8
Tdark
Novelty:  0.40339869
p_int:  0.999814003
p_ni:  0.000185996
Score:  0.51
Data Source:  BioPlex,STRINGDB
UGCG
Tclin
Family:  Enzyme
Novelty:  0.00481791
p_int:  0.999541978
p_ni:  0.000164848
p_wrong:  0.000293174
Score:  0.524
Data Source:  BioPlex,STRINGDB
FGFR3
Tclin
Family:  Kinase
Novelty:  0.00071612
p_int:  0.999159668
p_ni:  0.000840314
p_wrong:  1.8e-8
Score:  0.173
Data Source:  BioPlex,STRINGDB
NCEH1
Tchem
Family:  Enzyme
Novelty:  0.01528589
p_int:  0.998793031
p_ni:  0.001206951
p_wrong:  1.8e-8
Data Source:  BioPlex
ASIC4
Tbio
Family:  IC
Novelty:  0.02912816
p_int:  0.998730447
p_ni:  0.001269549
p_wrong:  5e-9
Data Source:  BioPlex
CHRNA3
Tclin
Family:  IC
Novelty:  0.00659767
p_int:  0.997455186
p_ni:  0.002544808
p_wrong:  7e-9
Data Source:  BioPlex
Publication Statistics
PubMed Score  6.67

PubMed score by year
PubTator Score  3.66

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