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Tbio
TMEM67
Meckelin

Protein Summary
Description
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000409623
  • ENSP00000386966
  • ENSG00000164953
  • ENST00000453321
  • ENSP00000389998

Symbol
  • MKS3
  • MKS3
  • JBTS6
  • NPHP11
  • TNEM67
  • MECKELIN
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.92
phenotype
0.87
virus perturbation
0.76
cellular component
0.74
cell line
0.66


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: 54.07   (req: < 5)
Gene RIFs: 20   (req: <= 3)
Antibodies: 78   (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: 54.07   (req: >= 5)
Gene RIFs: 20   (req: > 3)
Antibodies: 78   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
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 (211)
CD27
Tbio
Novelty:  0.00090508
p_int:  0.999944553
p_ni:  0.000055447
Data Source:  BioPlex
SLC22A9
Tbio
Family:  Transporter
Novelty:  0.02212992
p_int:  0.999802583
p_ni:  0.000197417
Data Source:  BioPlex
ATP1B4
Tdark
Family:  Transporter
Novelty:  0.08212894
p_int:  0.999464078
p_ni:  0.000535922
Data Source:  BioPlex
PATE1
Tbio
Novelty:  0.0705075
p_int:  0.998259325
p_ni:  0.001740675
Data Source:  BioPlex
FAM19A2
Tbio
Novelty:  0.28999346
p_int:  0.997345581
p_ni:  0.002654412
p_wrong:  7e-9
Data Source:  BioPlex
LYZL2
Tdark
Family:  Enzyme
Novelty:  0.50542161
p_int:  0.997337728
p_ni:  0.002661085
p_wrong:  0.000001187
Data Source:  BioPlex
SCGB1D1
Tbio
Novelty:  0.04199997
p_int:  0.996702411
p_ni:  0.00329758
p_wrong:  9e-9
Data Source:  BioPlex
UPK2
Tbio
Novelty:  0.01066132
p_int:  0.988783793
p_ni:  0.011212011
p_wrong:  0.000004196
Data Source:  BioPlex
HYOU1
Tbio
Novelty:  0.00833649
p_int:  0.988024287
p_ni:  0.011975679
p_wrong:  3.4e-8
Data Source:  BioPlex
TMPRSS11B
Tdark
Family:  Enzyme
Novelty:  1.20690443
p_int:  0.979249706
p_ni:  0.020747087
p_wrong:  0.000003207
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (6)
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

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

Find Similar Targets
Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Anchoring of the basal body to the plasma membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
Anchoring of the basal body to the plasma membrane
Cilium Assembly
Organelle biogenesis and maintenance
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
wellbeing measurement
3
1
3
9.5
neuroticism measurement
1
1
1
4.2
depressive symptom measurement
1
1
1
3.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
wellbeing measurement
3
9.5
neuroticism measurement
1
4.2
depressive symptom measurement
1
3.7
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
transmembrane protein 67
VGNC:14600
472937
Macaque
transmembrane protein 67
698631
Mouse
MGI:1923928
329795
Rat
RGD:1586167
313067
Dog
transmembrane protein 67
VGNC:47599
487049
Species
Name
OMA
EggNOG
Inparanoid
Chimp
transmembrane protein 67
Macaque
transmembrane protein 67
Mouse
Rat
Dog
transmembrane protein 67
Publication Statistics
PubMed Score 54.07
PubMed score by year
PubTator Score 35.56
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title