Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Veleri S |
Year: |
2014 |
Journal: |
Nat Commun |
Title: |
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. |
Volume: |
5 |
|
Pages: |
4207 |
|
•
•
•
•
•
|
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: |
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: |
Reissig LF |
Year: |
2022 |
Journal: |
Front Cell Dev Biol |
Title: |
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants. |
Volume: |
10 |
|
Pages: |
1006620 |
|
•
•
•
•
•
|
Publication |
First Author: |
Abrams SR |
Year: |
2021 |
Journal: |
Elife |
Title: |
Ciliary Hedgehog signaling regulates cell survival to build the facial midline. |
Volume: |
10 |
|
|
|
•
•
•
•
•
|
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:6781694 |
Assay Type: |
RT-PCR |
Annotation Date: |
2021-10-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3673015 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6781741 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
pSHF |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6781694 |
Assay Type: |
RT-PCR |
Annotation Date: |
2021-10-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6781741 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
embryo |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li C |
Year: |
2016 |
Journal: |
PLoS Biol |
Title: |
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. |
Volume: |
14 |
Issue: |
3 |
Pages: |
e1002416 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yee LE |
Year: |
2015 |
Journal: |
PLoS Genet |
Title: |
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. |
Volume: |
11 |
Issue: |
11 |
Pages: |
e1005627 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lewis WR |
Year: |
2019 |
Journal: |
FASEB J |
Title: |
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone. |
Volume: |
33 |
Issue: |
1 |
Pages: |
1440-1455 |
|
•
•
•
•
•
|
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: |
Youlten SE |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. |
Volume: |
12 |
Issue: |
1 |
Pages: |
2444 |
|
•
•
•
•
•
|
Publication |
First Author: |
San Agustin JT |
Year: |
2016 |
Journal: |
Nat Commun |
Title: |
Genetic link between renal birth defects and congenital heart disease. |
Volume: |
7 |
|
Pages: |
11103 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li Y |
Year: |
2015 |
Journal: |
Nature |
Title: |
Global genetic analysis in mice unveils central role for cilia in congenital heart disease. |
Volume: |
521 |
Issue: |
7553 |
Pages: |
520-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lo C |
Year: |
2011 |
Journal: |
MGI Direct Data Submission (B2B/CvDC) |
Title: |
Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Collin GB |
Year: |
2020 |
Journal: |
Cells |
Title: |
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
Volume: |
9 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP) |
Year: |
2011 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ingham NJ |
Year: |
2019 |
Journal: |
PLoS Biol |
Title: |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. |
Volume: |
17 |
Issue: |
4 |
Pages: |
e3000194 |
|
•
•
•
•
•
|
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: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Tallila J |
Year: |
2008 |
Journal: |
Am J Hum Genet |
Title: |
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. |
Volume: |
82 |
Issue: |
6 |
Pages: |
1361-7 |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
A C2 domain is usually involved in targeting proteins to cell membranes. Ciliary CC2D2A protein has two C2 domains and an inactive transglutaminase-like peptidase domain (CC2D2A-TGL) []. This entry represents the first C2 domain. CC2D2A (coiled-coil and C2 domain-containing protein 2A) is a component of the tectonic-like complex, a complex localised at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes []. It is required for ciliogenesis and sonic hedgehog/SHH signalling []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang D |
Year: |
2012 |
Journal: |
Cell Cycle |
Title: |
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. |
Volume: |
11 |
Issue: |
20 |
Pages: |
3861-75 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1633
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1405
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1457
 |
Fragment?: |
true |
|
•
•
•
•
•
|