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Rp2h
Gene Detail
Symbol

Name
ID
Rp2h
retinitis pigmentosa 2 homolog (human)
MGI:1277953
Feature Type
protein coding gene
Genetic Map
Chromosome X
15.83 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
ChrX:20364481-20405653 bp, + strand
From VEGA annotation of GRCm38

  41173 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5042  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RP2
Protein SuperFamily: protein XRP2
Gene Tree: Rp2h

Human
homologs
RP2, retinitis pigmentosa 2 (X-linked recessive)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6102
neXtProt AC: NX_O75695

Human Synonyms: DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2

Human Chr (Location): Xp11.3; chrX:46836912-46882358 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human RP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from APF )
 
Mice homozygous for a knock-out allele exhibit photoreceptor degeneration.
 
Human Diseases Modeled in Mice Using Rp2h (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Rp2h interacts with 336 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process cell morphogenesis, CTP biosynthetic process, ...
Component cell projection, centriole, ...
Function actin binding, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (43)    Tissues (12)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 35
Northern blot 8
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN rp2    NEW 
Molecular
reagents
All nucleic(48) cDNA(48)
Microarray probesets(8)
Other database
links
VEGA Gene Model OTTMUSG00000017057 (Evidence)
Ensembl Gene Model ENSMUSG00000060090 (Evidence)
Entrez Gene 19889 (Evidence)
UniGene 288141
DoTS DT.97362514, DT.527485, DT.101735985, DT.101372731
NIA Mouse Gene Index U019742
Consensus CDS Project CCDS30041.1, CCDS72346.1
International Mouse Phenotyping Consortium Status Rp2h
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017057 VEGA Gene Model | MGI Sequence Detail 41173 C57BL/6J ±  kb
transcript OTTMUST00000041372 VEGA | MGI Sequence Detail 1545 Not Applicable 
polypeptide OTTMUSP00000063985 VEGA | MGI Sequence Detail 369 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(8) UniProt(1)
Polymorphisms
SNPs within 2kb(110 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013912 Adenylate cyclase-associated CAP, C-terminal
InterPro IPR006599 CARP motif
InterPro IPR017901 C-CAP/cofactor C-like domain
InterPro IPR016098 Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal
InterPro IPR001564 Nucleoside diphosphate kinase
InterPro IPR017332 Protein XRP2
InterPro IPR012945 Tubulin binding cofactor C
Protein Ontology PR:000014168 protein XRP2
References
(Earliest) J:48965 Schwahn U, et al., Positional cloning of the gene for X-linked retinitis pigmentosa 2 [see comments]. Nat Genet. 1998 Aug;19(4):327-32
(Latest) J:214194 Li L, et al., Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2013 Jul;54(7):4503-11
All references(35)
Disease annotation references (1)
Other
accession IDs
MGI:2147908

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory