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WDPCP WD repeat containing planar cell polarity effector [ Homo sapiens (human) ]

Gene ID: 51057, updated on 5-Aug-2022

Summary

Official Symbol
WDPCPprovided by HGNC
Official Full Name
WD repeat containing planar cell polarity effectorprovided by HGNC
Primary source
HGNC:HGNC:28027
See related
Ensembl:ENSG00000143951 MIM:613580; AllianceGenome:HGNC:28027
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FRTZ; BBS15; FRITZ; CHDTHP; C2orf86; CPLANE5
Summary
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See WDPCP in Genome Data Viewer
Location:
2p15
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63119559..63840826, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63126634..63596131, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63346694..63815611, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L27 pseudogene 5 Neighboring gene diazepam binding inhibitor-like 5 pseudogene 2 Neighboring gene uncharacterized LOC107985769 Neighboring gene MTFR2 pseudogene 1 Neighboring gene PRELID1 pseudogene 6 Neighboring gene malate dehydrogenase 1 Neighboring gene ribosomal protein S4X pseudogene 5 Neighboring gene ribosomal protein L27 pseudogene 6 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 Neighboring gene CS pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3928 Neighboring gene Sharpr-MPRA regulatory region 742 Neighboring gene UDP-glucose pyrophosphorylase 2 Neighboring gene VPS54 subunit of GARP complex

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bardet-Biedl syndrome 15
MedGen: C3150127 OMIM: 615992 GeneReviews: Bardet-Biedl Syndrome Overview
Compare labs
Heart defect - tongue hamartoma - polysyndactyly syndrome
MedGen: C1857587 OMIM: 217085 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686C12204

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in auditory receptor cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in circulatory system development IEA
Inferred from Electronic Annotation
more info
 
involved_in digestive system development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of planar polarity IC
Inferred by Curator
more info
PubMed 
involved_in establishment of protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intraciliary transport IC
Inferred by Curator
more info
PubMed 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neural tube development IC
Inferred by Curator
more info
PubMed 
involved_in podocyte cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium assembly IC
Inferred by Curator
more info
PubMed 
involved_in regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of ruffle assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in respiratory system development IEA
Inferred from Electronic Annotation
more info
 
involved_in roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in septin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in tongue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in axonemal basal plate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cilium IC
Inferred by Curator
more info
PubMed 
colocalizes_with plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
WD repeat-containing and planar cell polarity effector protein fritz homolog
Names
Bardet-Biedl syndrome 15 protein
WD repeat-containing protein C2orf86
ciliogenesis and planar polarity effector 5
ciliogenesis and planar polarity effector complex subunit 5

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.

Genomic

  1. NG_028144.2 RefSeqGene

    Range
    257349..726267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042692.3NP_001036157.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1

    See identical proteins and their annotated locations for NP_001036157.1

    Status: REVIEWED

    Source sequence(s)
    AC009501, AF131737, AL833623, BM991121
    Consensus CDS
    CCDS46301.1
    UniProtKB/Swiss-Prot
    O95876
    Related
    ENSP00000381552.3, ENST00000398544.7
    Conserved Domains (2) summary
    pfam11768
    Location:8463
    DUF3312; Protein of unknown function (DUF3312)
    sd00039
    Location:182217
    7WD40; WD40 repeat [structural motif]
  2. NM_001354044.2NP_001340973.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC009501, AC016734, AC067953, AC074367, AC079353, BM991121
    Conserved Domains (1) summary
    pfam11768
    Location:55598
    Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
  3. NM_001354045.2NP_001340974.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC016734, AC079353, AK310290, BM997588
    Related
    ENST00000409835.5
    Conserved Domains (1) summary
    pfam11768
    Location:79586
    Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
  4. NM_015910.7NP_056994.3  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 2

    See identical proteins and their annotated locations for NP_056994.3

    Status: REVIEWED

    Source sequence(s)
    AC009501, AC016734, AC079353, AL833623, BM991121
    Consensus CDS
    CCDS42688.1
    UniProtKB/Swiss-Prot
    O95876, Q7Z2Z3
    Related
    ENSP00000272321.7, ENST00000272321.12
    Conserved Domains (1) summary
    pfam11768
    Location:79622
    DUF3312; Protein of unknown function (DUF3312)

RNA

  1. NR_122106.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009501, AF131737, AL833623, BC143426, BM991121
  2. NR_148704.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009501, AC016734, AC067953, AC074367, AC079353, BM991121
  3. NR_148705.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009501, AC016734, AC067953, AC074367, AC079353, BM991121

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    63119559..63840826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444629.1XP_047300585.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

  2. XM_047444631.1XP_047300587.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

  3. XM_047444627.1XP_047300583.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

  4. XM_047444626.1XP_047300582.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

  5. XM_047444628.1XP_047300584.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

  6. XM_005264348.5XP_005264405.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

    Conserved Domains (1) summary
    pfam11768
    Location:79622
    DUF3312; Protein of unknown function (DUF3312)
  7. XM_011532881.4XP_011531183.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    Conserved Domains (1) summary
    pfam11768
    Location:55598
    DUF3312; Protein of unknown function (DUF3312)
  8. XM_047444630.1XP_047300586.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3

  9. XM_047444633.1XP_047300589.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8

  10. XM_047444632.1XP_047300588.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6

  11. XM_011532887.4XP_011531189.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7

    Related
    ENSP00000387222.3, ENST00000409562.7
    Conserved Domains (1) summary
    pfam11768
    Location:79622
    DUF3312; Protein of unknown function (DUF3312)
  12. XM_011532884.4XP_011531186.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

    Conserved Domains (1) summary
    pfam11768
    Location:79622
    DUF3312; Protein of unknown function (DUF3312)
  13. XM_017004253.3XP_016859742.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9

  14. XM_011532890.4XP_011531192.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

    Conserved Domains (1) summary
    pfam11768
    Location:79582
    DUF3312; Protein of unknown function (DUF3312)
  15. XM_047444634.1XP_047300590.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X11

RNA

  1. XR_007076380.1 RNA Sequence

  2. XR_007076379.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    63126634..63596131 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)