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

Gene ID: 51057, updated on 23-Sep-2017
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; Vega:OTTHUMG00000152566
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
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]
Orthologs
Location:
2p15
Exon count:
27
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (63120755..63840825, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63348518..63815867, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985769 Neighboring gene ribosomal protein L27 pseudogene 5 Neighboring gene diazepam binding inhibitor-like 5 pseudogene 2 Neighboring gene mitochondrial fission regulator 2 pseudogene Neighboring gene PRELI domain-containing protein 1, mitochondrial pseudogene Neighboring gene malate dehydrogenase 1 Neighboring gene ribosomal protein S4X pseudogene 5 Neighboring gene citrate synthase pseudogene Neighboring gene ribosomal protein L27 pseudogene 6 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 Neighboring gene UDP-glucose pyrophosphorylase 2 Neighboring gene VPS54, GARP complex subunit

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bardet-Biedl syndrome 15
MedGen: C3150127 OMIM: 615992 GeneReviews: Bardet-Biedl Syndrome
Compare labs
Orstavik Lindemann Solberg syndrome
MedGen: C1857587 OMIM: 217085 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Markers

Homology

Clone Names

  • DKFZp686C12204

Gene Ontology Provided by GOA

Process Evidence Code Pubs
auditory receptor cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
cardiovascular system development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
digestive system development IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
glomerular visceral epithelial cell migration IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
palate development IEA
Inferred from Electronic Annotation
more info
 
regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ruffle assembly IEA
Inferred from Electronic Annotation
more info
 
respiratory system development IEA
Inferred from Electronic Annotation
more info
 
septin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
axonemal basal plate IEA
Inferred from Electronic Annotation
more info
 
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
WD repeat-containing and planar cell polarity effector protein fritz homolog
Names
Bardet-Biedl syndrome 15 protein
WD repeat-containing protein C2orf86

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
    257027..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, OTTHUMP00000201984, 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_001354044.1NP_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_001354045.1NP_001340974.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC016734, AC079353, AK310290, BM997588
    Conserved Domains (1) summary
    pfam11768
    Location:79586
    Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
  4. NM_015910.6NP_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
    Related
    ENSP00000272321.7, OTTHUMP00000201980, ENST00000272321.11
    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
    Related
    ENST00000409354.6
  2. NR_148704.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009501, AC016734, AC067953, AC074367, AC079353, BM991121
  3. NR_148705.1 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    63120755..63840825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004251.1XP_016859740.1  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)
  2. XM_005264348.3XP_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)
  3. XM_011532881.2XP_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)
  4. XM_017004252.1XP_016859741.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3

    Conserved Domains (1) summary
    pfam11768
    Location:55598
    Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
  5. XM_017004254.1XP_016859743.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8

    Related
    ENSP00000387222.3, OTTHUMP00000201983, ENST00000409562.7, OTTHUMT00000326823
  6. XM_011532887.2XP_011531189.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6

    Conserved Domains (1) summary
    pfam11768
    Location:79622
    DUF3312; Protein of unknown function (DUF3312)
  7. XM_011532884.2XP_011531186.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

    Conserved Domains (1) summary
    pfam11768
    Location:79622
    DUF3312; Protein of unknown function (DUF3312)
  8. XM_017004253.1XP_016859742.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7

  9. XM_011532886.2XP_011531188.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

    Conserved Domains (1) summary
    pfam11768
    Location:79586
    Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
  10. XM_011532890.2XP_011531192.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9

    Conserved Domains (1) summary
    pfam11768
    Location:79582
    DUF3312; Protein of unknown function (DUF3312)
  11. XM_011532891.2XP_011531193.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

    Conserved Domains (1) summary
    pfam11768
    Location:55558
    DUF3312; Protein of unknown function (DUF3312)

RNA

  1. XR_001738760.1 RNA Sequence

  2. XR_001738759.1 RNA Sequence

  3. XR_244935.2 RNA Sequence

  4. XR_244934.2 RNA Sequence

  5. XR_001738758.1 RNA Sequence

  6. XR_939686.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    63278766..63746004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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