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

    Gene ID: 79363, updated on 2-Nov-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. Predicted to be involved in cilium assembly; protein localization; and regulation of vesicle-mediated transport. Predicted to act upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole; ciliary basal body; and ciliary transition zone. [provided by Alliance of Genome Resources, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16231692..16237183, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15673027..15678517, complement)
    RS_2024_09 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 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. Structure of the ciliogenesis-associated CPLANE complex. Langousis G, et al. Sci Adv, 2022 Apr 15. PMID 35427153, Free PMC Article
    2. 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
    3. The small GTPase RSG1 controls a final step in primary cilia initiation. Agbu SO, et al. J Cell Biol, 2018 Jan 2. PMID 29038301, Free PMC Article
    4. 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
    5. 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

    See all (14) 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 ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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