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RP2 RP2, ARL3 GTPase activating protein [ Homo sapiens (human) ]

Gene ID: 6102, updated on 11-Nov-2018

Summary

Official Symbol
RP2provided by HGNC
Official Full Name
RP2, ARL3 GTPase activating proteinprovided by HGNC
Primary source
HGNC:HGNC:10274
See related
Ensembl:ENSG00000102218 MIM:300757; Vega:OTTHUMG00000021430
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XRP2; NME10; TBCCD2; NM23-H10; DELXp11.3
Summary
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 18.5), placenta (RPKM 13.6) and 24 other tissues See more
Orthologs

Genomic context

See RP2 in Genome Data Viewer
Location:
Xp11.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (46836912..46882358)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46696347..46741793)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member A7 Neighboring gene Y-box binding protein 1 pseudogene 8 Neighboring gene charged multivesicular body protein 5 pseudogene Neighboring gene long intergenic non-protein coding RNA 1545 Neighboring gene jade family PHD finger 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinitis pigmentosa 2 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-10-04)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Trafficking of myristoylated proteins to the cilium, organism-specific biosystem (from REACTOME)
    Trafficking of myristoylated proteins to the cilium, organism-specific biosystemA number of myristoylated proteins have been shown to traffic to the cilium in a myristoyl- and UNC119B:ARL3:RP2-dependent fashion. These include the ciliary proteins Nephrocystin 3 (NPHP3) and Cyst...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0215

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
post-Golgi vesicle-mediated transport IGI
Inferred from Genetic Interaction
more info
PubMed 
post-Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT post-chaperonin tubulin folding pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
centriole IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IGI
Inferred from Genetic Interaction
more info
PubMed 
extracellular exosome HDA PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
periciliary membrane compartment IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein XRP2
Names
retinitis pigmentosa 2 (X-linked recessive)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009107.1 RefSeqGene

    Range
    5001..50447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006915.2NP_008846.2  protein XRP2

    See identical proteins and their annotated locations for NP_008846.2

    Status: REVIEWED

    Source sequence(s)
    AL627143, BC053530, DA211161
    Consensus CDS
    CCDS14270.1
    UniProtKB/Swiss-Prot
    O75695
    UniProtKB/TrEMBL
    A0A1B2JLU2
    Related
    ENSP00000218340.3, OTTHUMP00000023189, ENST00000218340.3, OTTHUMT00000056375
    Conserved Domains (2) summary
    pfam07986
    Location:59177
    TBCC; Tubulin binding cofactor C
    cl00335
    Location:252308
    NDPk; Nucleoside diphosphate kinases (NDP kinases, NDPks): NDP kinases, responsible for the synthesis of nucleoside triphosphates (NTPs), are involved in numerous regulatory processes associated with proliferation, development, and differentiation. They are ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    46836912..46882358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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