Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
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: |
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: |
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: |
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 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 |
|
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|
|
•
•
•
•
•
|
Allele |
Name: |
photoreceptor cilium actin regulator; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
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•
•
•
•
|