Aliases for CPLANE2 Gene

Aliases for CPLANE2 Gene

  • Ciliogenesis And Planar Polarity Effector 2 2 3 4 5
  • REM2- And Rab-Like Small GTPase 1 3 4
  • REM2 And RAB Like Small GTPase 1 2 3
  • Rem/Rab-Similar GTPase 1 2 3
  • C1orf89 3 4
  • RSG1 3 4
  • Miro Domain-Containing Protein C1orf89 3
  • Chromosome 1 Open Reading Frame 89 2

External Ids for CPLANE2 Gene

Previous HGNC Symbols for CPLANE2 Gene

  • C1orf89
  • RSG1

Summaries for CPLANE2 Gene

GeneCards Summary for CPLANE2 Gene

CPLANE2 (Ciliogenesis And Planar Polarity Effector 2) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for CPLANE2 Gene

  • Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity).

Additional gene information for CPLANE2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPLANE2 Gene

Genomics for CPLANE2 Gene

GeneHancer (GH) Regulatory Elements for CPLANE2 Gene

Promoters and enhancers for CPLANE2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPLANE2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CPLANE2 Gene

Genomic Locations for CPLANE2 Gene
chr1:16,231,687-16,237,452
(GRCh38/hg38)
Size:
5,766 bases
Orientation:
Minus strand
chr1:16,558,182-16,563,659
(GRCh37/hg19)
Size:
5,478 bases
Orientation:
Minus strand

Genomic View for CPLANE2 Gene

Genes around CPLANE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPLANE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPLANE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPLANE2 Gene

Proteins for CPLANE2 Gene

  • Protein details for CPLANE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BU20-CPLN2_HUMAN
    Recommended name:
    Ciliogenesis and planar polarity effector 2
    Protein Accession:
    Q9BU20
    Secondary Accessions:
    • Q5TEV7

    Protein attributes for CPLANE2 Gene

    Size:
    258 amino acids
    Molecular mass:
    28498 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CPLANE2 Gene

Post-translational modifications for CPLANE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPLANE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CPLANE2 Gene

Domains & Families for CPLANE2 Gene

Gene Families for CPLANE2 Gene

Protein Domains for CPLANE2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CPLANE2 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 1 open reading frame 89 (Q5TEV6_HUMAN)
  • REM2- and Rab-like small GTPase 1 (RSG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BU20

UniProtKB/Swiss-Prot:

CPLN2_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with CPLANE2: view

Function for CPLANE2 Gene

Molecular function for CPLANE2 Gene

UniProtKB/Swiss-Prot Function:
Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity).

Phenotypes From GWAS Catalog for CPLANE2 Gene

Gene Ontology (GO) - Molecular Function for CPLANE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with CPLANE2: view
genes like me logo Genes that share phenotypes with CPLANE2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CPLANE2 Gene

Localization for CPLANE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPLANE2 Gene

Cytoplasm, cytoskeleton, cilium basal body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPLANE2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 1
extracellular 0
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CPLANE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0036064 ciliary basal body ISS --
genes like me logo Genes that share ontologies with CPLANE2: view

Pathways & Interactions for CPLANE2 Gene

PathCards logo

SuperPathways for CPLANE2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CPLANE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA --
GO:0017157 regulation of exocytosis ISS --
GO:0030030 cell projection organization IEA --
GO:0031338 regulation of vesicle fusion ISS --
genes like me logo Genes that share ontologies with CPLANE2: view

No data available for Pathways by source and SIGNOR curated interactions for CPLANE2 Gene

Drugs & Compounds for CPLANE2 Gene

No Compound Related Data Available

Transcripts for CPLANE2 Gene

mRNA/cDNA for CPLANE2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPLANE2 Gene

No ASD Table

Relevant External Links for CPLANE2 Gene

GeneLoc Exon Structure for
CPLANE2
ECgene alternative splicing isoforms for
CPLANE2

Expression for CPLANE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CPLANE2 Gene:

CPLANE2

Evidence on tissue expression from TISSUES for CPLANE2 Gene

  • Skin(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPLANE2 Gene

Orthologs for CPLANE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CPLANE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSG1 33 32
  • 98.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSG1 33 32
  • 89.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RSG1 33 32
  • 88.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSG1 33
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsg1 33 32
  • 84.95 (n)
OneToOne
Cplane2 17
platypus
(Ornithorhynchus anatinus)
Mammalia RSG1 33
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSG1 33
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsg1 32
  • 64.12 (n)
zebrafish
(Danio rerio)
Actinopterygii rsg1 33 32
  • 63.49 (n)
OneToOne
Species where no ortholog for CPLANE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CPLANE2 Gene

ENSEMBL:
Gene Tree for CPLANE2 (if available)
TreeFam:
Gene Tree for CPLANE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPLANE2: view image

Paralogs for CPLANE2 Gene

No data available for Paralogs for CPLANE2 Gene

Variants for CPLANE2 Gene

Sequence variations from dbSNP and Humsavar for CPLANE2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000774406 -- 16,233,069(-) G/A intron_variant
rs1002216153 -- 16,238,719(-) A/T upstream_transcript_variant
rs1002548132 -- 16,234,911(-) A/C/T intron_variant
rs1003222729 -- 16,237,203(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1003253844 -- 16,237,398(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CPLANE2 Gene

Variant ID Type Subtype PubMed ID
esv3585333 CNV loss 21293372
nsv3520 CNV insertion 18451855
nsv545641 CNV loss 21841781
nsv833869 CNV loss 17160897
nsv954845 CNV deletion 24416366

Variation tolerance for CPLANE2 Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPLANE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPLANE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPLANE2 Gene

Disorders for CPLANE2 Gene

Additional Disease Information for CPLANE2

No disorders were found for CPLANE2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CPLANE2 Gene

Publications for CPLANE2 Gene

  1. The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. (PMID: 19767740) Gray RS … Finnell RH (Nature cell biology 2009) 2 3 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease. (PMID: 27717682) Mukawa M … Akagawa H (Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2017) 4 56
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 56

Products for CPLANE2 Gene

Sources for CPLANE2 Gene