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

Gene ID: 79363, updated on 5-Mar-2024

Summary

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Official Symbol
CPLANE2provided by HGNC
Official Full Name
ciliogenesis and planar polarity effector complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:28127
See related
Ensembl:ENSG00000132881 MIM:620487; AllianceGenome:HGNC:28127
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
Summary
Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in cellular protein localization; cilium assembly; and regulation of vesicle-mediated transport. Predicted to be located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 2.8), ovary (RPKM 1.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See CPLANE2 in Genome Data Viewer
Location:
1p36.13
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16231692..16237183, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15673027..15678517, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 325 Neighboring gene Rho guanine nucleotide exchange factor 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16533787-16534760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16534761-16535733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16538951-16539649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16542837-16543533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 329 Neighboring gene anoctamin 7 like 1 (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16557534-16558362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16563171-16563715 Neighboring gene metallothionein 1X pseudogene 1 Neighboring gene F-box protein 42 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16678240-16679014

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. Gray RS, et al. Nat Cell Biol, 2009 Oct. PMID 19767740, Free PMC Article
  2. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Chambers JC, et al. Nat Genet, 2011 Oct 16. PMID 22001757, Free PMC Article
  3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
  4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 axoneme assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cranial skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in endocardial cushion fusion IEA
Inferred from Electronic Annotation
more info
  
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in limb development IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein processing 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 smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of vesicle fusion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in centriole IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ciliary base IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary transition zone IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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_030907.4 → NP_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
    Q5TEV7, Q9BU20
    Related
    ENSP00000364749.2, ENST00000375599.8
    Conserved Domains (1) summary
    cd00882
    Location:62 → 180
    Ras_like_GTPase; Rat sarcoma (Ras)-like superfamily of small guanosine triphosphatases (GTPases)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    16231692..16237183 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542126.4 → XP_011540428.1  ciliogenesis and planar polarity effector 2 isoform X1

    Conserved Domains (1) summary
    cd00882
    Location:62 → 176
    Ras_like_GTPase; Rat sarcoma (Ras)-like superfamily of small guanosine triphosphatases (GTPases)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791756.1 Reference GRCh38.p14 PATCHES

    Range
    35829..41320 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332816.1 → XP_054188791.1  ciliogenesis and planar polarity effector 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    15673027..15678517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338693.1 → XP_054194668.1  ciliogenesis and planar polarity effector 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BU20.2 GenPept UniProtKB/Swiss-Prot:Q9BU20

Gene LinkOut

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