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

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: mouse all
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Genomic context

Location:: 2p15

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (63119559..63840826, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (63126634..63848517, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (63346694..63815611, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis.
Title: Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis.
Inflammatory cytokines cause reduced WDPCP expression, which contributes to impaired ciliogenesis in human rhinosinusitis.
Title: WDPCP regulates the ciliogenesis of human sinonasal epithelial cells in chronic rhinosinusitis.
study linked mutations in Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other genes mutated in these syndromes also influence collective cell movement and ciliogenesis
Title: Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D2S402 (e-PCR)
- UniSTS:148522

SHGC-15055 (e-PCR)
- UniSTS:73778

D11S3014 (e-PCR)
- UniSTS:152118

D11S3026 (e-PCR)
- UniSTS:152129

D2S1745 (e-PCR)
- UniSTS:42572

RH121743 (e-PCR)
- UniSTS:134486

D11S2715 (e-PCR)
- UniSTS:151936

D11S2766 (e-PCR)
- UniSTS:151969

D2S2753 (e-PCR)
- UniSTS:69797

NoName (e-PCR)
- UniSTS:62643

D11S3270 (e-PCR)
- UniSTS:152513

SHGC-172996 (e-PCR)
- UniSTS:185297

D2S1885 (e-PCR)
- UniSTS:153577

RH36254 (e-PCR)
- UniSTS:37867

RH12136 (e-PCR)
- UniSTS:24821

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info

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
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	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment of protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary transport	NAS Non-traceable Author Statement 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
involved_in neural tube development	NAS Non-traceable Author Statement more info	PubMed
involved_in podocyte cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium assembly	NAS Non-traceable Author Statement 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
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	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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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.

Genomic

NG_028144.2 RefSeqGene

Range

257349..726267

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042692.3 → NP_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/TrEMBL

E9PFG9

Related

ENSP00000381552.3, ENST00000398544.7

Conserved Domains (2) summary

pfam11768
Location:8 → 463

DUF3312; Protein of unknown function (DUF3312)

sd00039
Location:182 → 217

7WD40; WD40 repeat [structural motif]
NM_001354044.2 → NP_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:55 → 598

Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
NM_001354045.2 → NP_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:79 → 586

Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
NM_015910.7 → NP_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, Q53RW4, Q7Z2Z3

Related

ENSP00000272321.7, ENST00000272321.12

Conserved Domains (1) summary

pfam11768
Location:79 → 622

DUF3312; Protein of unknown function (DUF3312)

RNA

NR_122106.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC009501, AF131737, AL833623, BC143426, BM991121
NR_148704.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC009501, AC016734, AC067953, AC074367, AC079353, BM991121
NR_148705.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC009501, AC016734, AC067953, AC074367, AC079353, BM991121

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

63119559..63840826 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444629.1 → XP_047300585.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_047444631.1 → XP_047300587.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4
XM_047444627.1 → XP_047300583.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_047444626.1 → XP_047300582.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_047444628.1 → XP_047300584.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_005264348.5 → XP_005264405.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

Conserved Domains (1) summary

pfam11768
Location:79 → 622

DUF3312; Protein of unknown function (DUF3312)
XM_011532881.4 → XP_011531183.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

Conserved Domains (1) summary

pfam11768
Location:55 → 598

DUF3312; Protein of unknown function (DUF3312)
XM_047444630.1 → XP_047300586.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3
XM_047444633.1 → XP_047300589.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8
XM_047444632.1 → XP_047300588.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6
XM_011532887.4 → XP_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:79 → 622

DUF3312; Protein of unknown function (DUF3312)
XM_011532884.4 → XP_011531186.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

Conserved Domains (1) summary

pfam11768
Location:79 → 622

DUF3312; Protein of unknown function (DUF3312)
XM_017004253.3 → XP_016859742.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9
XM_011532890.4 → XP_011531192.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

Conserved Domains (1) summary

pfam11768
Location:79 → 582

DUF3312; Protein of unknown function (DUF3312)
XM_047444634.1 → XP_047300590.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X11

RNA

XR_007076380.1 RNA Sequence
XR_007076379.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

63126634..63848517 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342378.1 → XP_054198353.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_054342380.1 → XP_054198355.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4
XM_054342376.1 → XP_054198351.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_054342375.1 → XP_054198350.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1
XM_054342377.1 → XP_054198352.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2
XM_054342379.1 → XP_054198354.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3
XM_054342384.1 → XP_054198359.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8
XM_054342382.1 → XP_054198357.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6
XM_054342383.1 → XP_054198358.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7
XM_054342381.1 → XP_054198356.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5
XM_054342385.1 → XP_054198360.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9
XM_054342387.1 → XP_054198362.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10
XM_054342386.1 → XP_054198361.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X12
XM_054342388.1 → XP_054198363.1 WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X11