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

    Gene ID: 79363, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    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

    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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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
      Q5TEV7, 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: 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_011542126.4XP_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)

    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_054332816.1XP_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_054338693.1XP_054194668.1  ciliogenesis and planar polarity effector 2 isoform X1