About   Help   FAQ
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

Protein SuperFamily: protein XRP2
Gene Tree: Rp2h

Human
homologs
Human Homolog RP2, retinitis pigmentosa 2 (X-linked recessive)
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
Disease Associations  (1) Diseases Associated with Human RP2
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from APF )
Interactions
Rp2h interacts with 337 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)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(48) cDNA(48)
Microarray probesets(8)
Other database
links
VEGA Gene ModelOTTMUSG00000017057 (Evidence)
Ensembl Gene ModelENSMUSG00000060090 (Evidence)
Entrez Gene19889 (Evidence)
UniGene288141
DoTSDT.101735985, DT.101372731, DT.527485, DT.97362514
NIA Mouse Gene IndexU019742
Consensus CDS ProjectCCDS30041.1, CCDS72346.1
International Mouse Knockout Project StatusRp2h
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(57) RefSeq(9) 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(35)
Other
accession IDs
MGI:2147908

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/09/2014
MGI 5.20
The Jackson Laboratory