Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369977 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6370128 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
B9d1 +/+ |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369977 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6370128 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
B9d1 +/- |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369977 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-11-08 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6370128 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
B9d1 -/- |
Detected: |
false |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369977 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6370129 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
B9d1 +/+ |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369977 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6370129 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
B9d1 +/- |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369977 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-11-08 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6370129 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
B9d1 -/- |
Detected: |
false |
Specimen Num: |
3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dowdle WE |
Year: |
2011 |
Journal: |
Am J Hum Genet |
Title: |
Disruption of a ciliary B9 protein complex causes Meckel syndrome. |
Volume: |
89 |
Issue: |
1 |
Pages: |
94-110 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chih B |
Year: |
2011 |
Journal: |
Nat Cell Biol |
Title: |
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. |
Volume: |
14 |
Issue: |
1 |
Pages: |
61-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roberson EC |
Year: |
2015 |
Journal: |
J Cell Biol |
Title: |
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. |
Volume: |
209 |
Issue: |
1 |
Pages: |
129-42 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6781693 |
Assay Type: |
RT-PCR |
Annotation Date: |
2021-10-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3673015 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6781740 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
pSHF |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6781693 |
Assay Type: |
RT-PCR |
Annotation Date: |
2021-10-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6781740 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
embryo |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyashita H |
Year: |
1999 |
Journal: |
GenBank Submission |
Title: |
Mus musculus mRNA for B9, complete cds |
|
|
Pages: |
AB030483 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sang L |
Year: |
2011 |
Journal: |
Cell |
Title: |
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. |
Volume: |
145 |
Issue: |
4 |
Pages: |
513-28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Garcia-Gonzalo FR |
Year: |
2011 |
Journal: |
Nat Genet |
Title: |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. |
Volume: |
43 |
Issue: |
8 |
Pages: |
776-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Burnicka-Turek O |
Year: |
2016 |
Journal: |
Hum Mol Genet |
Title: |
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. |
Volume: |
25 |
Issue: |
14 |
Pages: |
3011-3028 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Europhenome Mouse Phenotyping Resource |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from Europhenome |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369990 |
Assay Type: |
Western blot |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603917 |
|
Stage: |
TS17 |
Assay Id: |
MGI:6370130 |
Age: |
embryonic day 10.5 |
|
|
Specimen Label: |
B9d1 -/- |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369990 |
Assay Type: |
Western blot |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603917 |
|
Stage: |
TS17 |
Assay Id: |
MGI:6370130 |
Age: |
embryonic day 10.5 |
|
|
Specimen Label: |
B9d1 +/- |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6369990 |
Assay Type: |
Western blot |
Annotation Date: |
2019-11-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603917 |
|
Stage: |
TS17 |
Assay Id: |
MGI:6370130 |
Age: |
embryonic day 10.5 |
|
|
Specimen Label: |
B9d1 -/- |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
204
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Kyttälä M |
Year: |
2006 |
Journal: |
Nat Genet |
Title: |
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. |
Volume: |
38 |
Issue: |
2 |
Pages: |
155-7 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
561
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
175
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
247
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
561
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
115
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
118
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
561
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
65
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Ponsard C |
Year: |
2007 |
Journal: |
Front Biosci |
Title: |
Identification of ICIS-1, a new protein involved in cilia stability. |
Volume: |
12 |
|
Pages: |
1661-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Williams CL |
Year: |
2008 |
Journal: |
Mol Biol Cell |
Title: |
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. |
Volume: |
19 |
Issue: |
5 |
Pages: |
2154-68 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vieillard J |
Year: |
2016 |
Journal: |
J Cell Biol |
Title: |
Transition zone assembly and its contribution to axoneme formation in Drosophila male germ cells. |
Volume: |
214 |
Issue: |
7 |
Pages: |
875-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Slaats GG |
Year: |
2016 |
Journal: |
J Med Genet |
Title: |
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. |
Volume: |
53 |
Issue: |
1 |
Pages: |
62-72 |
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Publication |
First Author: |
Pratt MB |
Year: |
2016 |
Journal: |
J Cell Sci |
Title: |
Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults. |
Volume: |
129 |
Issue: |
20 |
Pages: |
3732-3743 |
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Protein Domain |
Type: |
Family |
Description: |
The C2 domain is one of the most prevalent eukaryotic lipid-binding domains deployed in diverse functional contexts. Distinct versions of the C2 domain have been recognized, the classical C2, the PI3K-type, the tensin-type, the B9-type, the DOCK-type, the NT-type and the Aida-type. Despite their limited sequence similarity, all C2 domains contain at their core a compact β-sandwich composed of two four-stranded β-sheets with highly variable inter-strand regions that might contain one or more α-helices. One feature that is highly conserved in the C2 domains is the pair of hydrophobic residues on the upper part of the β-sheet, which are involved in imparting a curvature of the sheet that allows formation of a concave ligand-binding area [].This entry represents a family of B9-type C2 domain containing proteins, found in ciliary basal body associated proteins. Although its specific function is unknown, a cilia-specific role has been suggested for the poorly characterised B9-type C2 domain [, , ].Some proteins known to contain a B9-type C2 domain are listed below:Mammalian Tectonic-like complex member MKS1 (also known as Meckel syndrome 1 , MKS1). The tectonic-like complex is localised at the transition zone of primary cilia and acts as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. It is involved in centrosome migration to the apical cell surface during early ciliogenesis [, , ]. The homologue in Drosophila melanogaster is required for ciliary structure and function [, ]. Mammalian proteins B9D1 and B9D2. B9D1 is required for ciliogenesis and sonic hedgehog/SHH signaling [, ]. |
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Publication |
First Author: |
Dawe HR |
Year: |
2007 |
Journal: |
Hum Mol Genet |
Title: |
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. |
Volume: |
16 |
Issue: |
2 |
Pages: |
173-86 |
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Publication |
First Author: |
Tammachote R |
Year: |
2009 |
Journal: |
Hum Mol Genet |
Title: |
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. |
Volume: |
18 |
Issue: |
17 |
Pages: |
3311-23 |
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Publication |
First Author: |
Zhang D |
Year: |
2010 |
Journal: |
Gene |
Title: |
Identification of novel families and classification of the C2 domain superfamily elucidate the origin and evolution of membrane targeting activities in eukaryotes. |
Volume: |
469 |
Issue: |
1-2 |
Pages: |
18-30 |
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