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 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 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:46696347-46741793 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human RP2

Alleles and phenotypes

All alleles(3) : Targeted(2) Gene trapped(1)

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	cell morphogenesis, CTP biosynthetic process, ...
Component	cell projection, cilium, ...
Function	ATP binding, GTPase activator activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (43)    Tissues (12)    Images (22)
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	35
Northern blot	8

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

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.101372731, DT.101735985, DT.527485, DT.97362514
NIA Mouse Gene Index	U019742
Consensus CDS Project	CCDS30041.1
International Mouse Knockout Project Status	Rp2h

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017057	VEGA Gene Model | MGI Sequence Detail	41173	C57BL/6J
transcript	OTTMUST00000041311	VEGA | MGI Sequence Detail	4417	Not Applicable
polypeptide	OTTMUSP00000018546	VEGA | MGI Sequence Detail	347	Not Applicable

All sequences(46) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(81 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(34)

Other accession IDs

MGI:2147908