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RP2 RP2 activator of ARL3 GTPase [ Homo sapiens (human) ]

Gene ID: 6102, updated on 4-Dec-2022

Summary

Official Symbol
RP2provided by HGNC
Official Full Name
RP2 activator of ARL3 GTPaseprovided by HGNC
Primary source
HGNC:HGNC:10274
See related
Ensembl:ENSG00000102218 MIM:300757; AllianceGenome:HGNC:10274
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
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Genomic context

See RP2 in Genome Data Viewer
Location:
Xp11.3
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46837043..46882358)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46244009..46289363)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46696478..46741793)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member A7 Neighboring gene CHMP5 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 10799 Neighboring gene long intergenic non-protein coding RNA 1545 Neighboring gene Sharpr-MPRA regulatory region 4088 Neighboring gene jade family PHD finger 3

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in centriole IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium TAS
Traceable Author Statement
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in periciliary membrane compartment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein XRP2
Names
RP2, ARL3 GTPase activating protein
retinitis pigmentosa 2 (X-linked recessive)

NCBI Reference Sequences (RefSeq)

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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
    5132..50447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006915.3NP_008846.2  protein XRP2

    See identical proteins and their annotated locations for NP_008846.2

    Status: REVIEWED

    Source sequence(s)
    AL627143, BC053530
    Consensus CDS
    CCDS14270.1
    UniProtKB/Swiss-Prot
    O75695, Q9NU67
    UniProtKB/TrEMBL
    A0A1B2JLU2
    Related
    ENSP00000218340.3, ENST00000218340.4
    Conserved Domains (1) summary
    pfam07986
    Location:59177
    TBCC; Tubulin binding cofactor C

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    46837043..46882358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    46244009..46289363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)