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CPLANE2 ciliogenesis and planar polarity effector 2 [ Homo sapiens (human) ]

Gene ID: 79363, updated on 23-Nov-2021

Summary

Official Symbol
CPLANE2provided by HGNC
Official Full Name
ciliogenesis and planar polarity effector 2provided by HGNC
Primary source
HGNC:HGNC:28127
See related
Ensembl:ENSG00000132881
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RSG1; C1orf89
Expression
Ubiquitous expression in thyroid (RPKM 2.8), ovary (RPKM 1.9) and 25 other tissues See more
Orthologs
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Genomic context

See CPLANE2 in Genome Data Viewer
Location:
1p36.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (16231692..16237445, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16558187..16563678, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 19 Neighboring gene anoctamin 7 like 1 (pseudogene) Neighboring gene metallothionein 1X pseudogene 1 Neighboring gene F-box protein 42

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 Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10731

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of vesicle fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ciliogenesis and planar polarity effector 2
Names
REM2 and RAB like small GTPase 1
REM2- and Rab-like small GTPase 1
Rem/Rab-Similar GTPase 1
miro domain-containing protein C1orf89

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.

mRNA and Protein(s)

  1. NM_030907.4NP_112169.2  ciliogenesis and planar polarity effector 2

    See identical proteins and their annotated locations for NP_112169.2

    Status: VALIDATED

    Source sequence(s)
    AI744915, AL109627, AL559024, BC008702, BP214716
    Consensus CDS
    CCDS171.1
    UniProtKB/Swiss-Prot
    Q9BU20
    Related
    ENSP00000364749.2, ENST00000375599.8
    Conserved Domains (1) summary
    cd00882
    Location:62180
    Ras_like_GTPase; Rat sarcoma (Ras)-like superfamily of small guanosine triphosphatases (GTPases)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    16231692..16237445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542126.3XP_011540428.1  ciliogenesis and planar polarity effector 2 isoform X1

    Conserved Domains (1) summary
    cd00882
    Location:62176
    Ras_like_GTPase; Rat sarcoma (Ras)-like superfamily of small guanosine triphosphatases (GTPases)
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