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Search results 1 to 58 out of 58 for Pcare

0.029s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: This entry represents PCARE encoded by the C2ORF71 gene [, ]. Mutations of C2ORF71 has been associated with autosomal recessive (AR) retinitis pigmentosa (RP) in humans and with visual defects in zebrafish [, ]. The function of this family of proteins is unknown, but it is predominately expressed in the photoreceptors and is likely to be important in the development and function of the retina.
Publication
First Author: Collin RW
Year: 2010
Journal: Am J Hum Genet
Title: Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
Volume: 86
Issue: 5
Pages: 783-8
Publication
First Author: Nishimura DY
Year: 2010
Journal: Am J Hum Genet
Title: Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Volume: 86
Issue: 5
Pages: 686-95
Publication
First Author: Corral-Serrano JC
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Volume: 117
Issue: 18
Pages: 9922-9931
Protein
Organism: Mus musculus/domesticus
Length: 1279  
Fragment?: false
Publication
First Author: Downs LM
Year: 2013
Journal: Anim Genet
Title: Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.
Volume: 44
Issue: 2
Pages: 169-77
Publication
First Author: Sergouniotis PI
Year: 2011
Journal: Invest Ophthalmol Vis Sci
Title: A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
Volume: 52
Issue: 3
Pages: 1880-6
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
Publication
First Author: Kevany BM
Year: 2015
Journal: Hum Mol Genet
Title: Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration.
Volume: 24
Issue: 9
Pages: 2627-40
GXD Expression      
Probe: MGI:4947410
Assay Type: RT-PCR
Annotation Date: 2011-04-21
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619822
Stage: TS22
Assay Id: MGI:4947413
Age: embryonic day 14.0
Specimen Label: E14
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:4947410
Assay Type: RT-PCR
Annotation Date: 2011-04-21
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619827
Stage: TS27
Assay Id: MGI:4947413
Age: postnatal day 0
Specimen Label: P0
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:4947410
Assay Type: RT-PCR
Annotation Date: 2011-04-21
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619828
Stage: TS28
Assay Id: MGI:4947413
Age: postnatal month 5
Specimen Label: 5mo
Detected: true
Specimen Num: 3
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication
First Author: Strausberg RL
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Volume: 99
Issue: 26
Pages: 16899-903
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 Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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: 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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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: 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
Allele
Name: photoreceptor cilium actin regulator; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout