This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009] See more...

Aliases for WDR17 Gene

Aliases for WDR17 Gene

  • WD Repeat Domain 17 2 3 5
  • WD Repeat-Containing Protein 17 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 2.7.7.8 52
  • EC 6.1.1 52

External Ids for WDR17 Gene

Previous GeneCards Identifiers for WDR17 Gene

  • GC00U991124
  • GC04P177538
  • GC04P177683
  • GC04P177362
  • GC04P177224
  • GC04P176987
  • GC04P172737

Summaries for WDR17 Gene

Entrez Gene Summary for WDR17 Gene

  • This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]

GeneCards Summary for WDR17 Gene

WDR17 (WD Repeat Domain 17) is a Protein Coding gene. Diseases associated with WDR17 include Retinitis Pigmentosa 29 and Retinal Disease. An important paralog of this gene is TEP1.

Additional gene information for WDR17 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR17 Gene

Genomics for WDR17 Gene

GeneHancer (GH) Regulatory Elements for WDR17 Gene

Promoters and enhancers for WDR17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J176065 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 520.5 +0.6 567 2.4 EP300 USF1 TEAD4 ZIC2 REST ZNF423 ZBTB26 SAP30 RFX1 NFYB WDR17 lnc-SPCS3-4 ENSG00000201516
GH04J176000 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 15.6 -64.0 -64034 2.8 ZSCAN5C TEAD4 ZIC2 ZBTB26 SAP30 ZNF341 POLR2A KLF9 WT1 ZBTB17 GPM6A WDR17 ENSG00000248249
GH04J176192 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.5 +128.6 128608 3.9 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 PHF8 JUND FOS SPATA4 lnc-WDR17-5 WDR17 RF00017-4459
GH04J176357 Enhancer 0.7 Ensembl ENCODE 10 +292.9 292872 3 FOXA2 BATF IRF4 ATF2 JUNB NFIC MEF2A ARID3A RUNX3 CEBPB WDR17 SPCS3 HSALNG0038703 lnc-SPCS3-1
GH04J176184 Enhancer 0.8 Ensembl ENCODE 6.3 +121.2 121207 4.7 FOS EP300 OSR2 CEBPB SPI1 EZH2 GTF2F1 ZNF335 MAX STAT3 SPATA4 WDR17 RF00017-4459 piR-43107-244
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR17 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR17

Top Transcription factor binding sites by QIAGEN in the WDR17 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • FOXI1
  • HEN1
  • HFH-3
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-7A
  • Pax-5

Genomic Locations for WDR17 Gene

Genomic Locations for WDR17 Gene
chr4:176,065,834-176,182,828
(GRCh38/hg38)
Size:
116,995 bases
Orientation:
Plus strand
chr4:176,986,985-177,103,979
(GRCh37/hg19)
Size:
116,995 bases
Orientation:
Plus strand

Genomic View for WDR17 Gene

Genes around WDR17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR17 Gene

Proteins for WDR17 Gene

  • Protein details for WDR17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZU2-WDR17_HUMAN
    Recommended name:
    WD repeat-containing protein 17
    Protein Accession:
    Q8IZU2
    Secondary Accessions:
    • E7EQX0
    • Q0QD35

    Protein attributes for WDR17 Gene

    Size:
    1322 amino acids
    Molecular mass:
    147703 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BC146812; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR17 Gene

Selected DME Specific Peptides for WDR17 Gene

Q8IZU2:
  • TVLGESA
  • DDGTVRI

Post-translational modifications for WDR17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for WDR17 Gene

Gene Families for WDR17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for WDR17 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat domain 17 (Q0QD35_HUMAN)
  • cDNA FLJ25882 fis, clone CBR02655 (Q8N797_HUMAN)
  • WD repeat-containing protein 17 (WDR17_HUMAN)
genes like me logo Genes that share domains with WDR17: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WDR17 Gene

Function for WDR17 Gene

Enzyme Numbers (IUBMB) for WDR17 Gene

Phenotypes From GWAS Catalog for WDR17 Gene

genes like me logo Genes that share phenotypes with WDR17: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR17

Clone Products

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR17 Gene

Localization for WDR17 Gene

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 WDR17 gene
Compartment Confidence
nucleus 3
plasma membrane 1
cytoskeleton 1
cytosol 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with WDR17: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for WDR17 Gene

Pathways & Interactions for WDR17 Gene

PathCards logo

SuperPathways for WDR17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR17 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WDR17 Gene

Drugs & Compounds for WDR17 Gene

No Compound Related Data Available

Transcripts for WDR17 Gene

mRNA/cDNA for WDR17 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR17

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR17 Gene

No ASD Table

Relevant External Links for WDR17 Gene

GeneLoc Exon Structure for
WDR17

Expression for WDR17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WDR17 Gene

This gene is overexpressed in Monocytes (26.6), Fetal Brain (16.0), Frontal cortex (8.8), and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR17 Gene



Protein tissue co-expression partners for WDR17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR17

SOURCE GeneReport for Unigene cluster for WDR17 Gene:

Hs.532056

Evidence on tissue expression from TISSUES for WDR17 Gene

  • Eye(4.2)
genes like me logo Genes that share expression patterns with WDR17: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR17 Gene

Orthologs for WDR17 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WDR17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR17 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR17 31 30
  • 89.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR17 31 30
  • 88.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr17 30
  • 86.45 (n)
mouse
(Mus musculus)
Mammalia Wdr17 17 31 30
  • 86.23 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR17 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR17 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR17 31 30
  • 79.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR17 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr17 30
  • 76.51 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr17 31 30
  • 71.66 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX7 31
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for WDR17 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 WDR17 Gene

ENSEMBL:
Gene Tree for WDR17 (if available)
TreeFam:
Gene Tree for WDR17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR17: view image

Paralogs for WDR17 Gene

(5) SIMAP similar genes for WDR17 Gene using alignment to 6 proteins:

  • WDR17_HUMAN
  • E7EP77_HUMAN
  • E7ESC9_HUMAN
  • E9PFA2_HUMAN
  • H0YAE4_HUMAN
  • H0YAG1_HUMAN
genes like me logo Genes that share paralogs with WDR17: view

Variants for WDR17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR17 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs11736872 - p.Ala1295Thr
rs17625943 - p.Ala1215Thr
rs4690661 - p.Ala814Thr
rs59567138 - p.Ile418Val
rs6810394 - p.Glu952Lys

Additional dbSNP identifiers (rs#s) for WDR17 Gene

Structural Variations from Database of Genomic Variants (DGV) for WDR17 Gene

Variant ID Type Subtype PubMed ID
esv2728772 CNV deletion 23290073
esv2728774 CNV deletion 23290073
esv27476 CNV loss 19812545
esv3376172 CNV insertion 20981092
esv34137 CNV loss 18971310
esv3603271 CNV gain 21293372
esv3603274 CNV gain 21293372
nsv1017524 CNV gain 25217958
nsv1020249 CNV loss 25217958
nsv1024430 CNV loss 25217958
nsv510894 OTHER complex 20534489
nsv596262 CNV gain 21841781
nsv822849 CNV loss 20364138

Variation tolerance for WDR17 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.42; 97.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR17

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR17 Gene

Disorders for WDR17 Gene

MalaCards: The human disease database

(3) MalaCards diseases for WDR17 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 29
  • rp29
retinal disease
  • retinal disorders
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search WDR17 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WDR17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR17 Gene

Publications for WDR17 Gene

  1. Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34. (PMID: 12401215) Stöhr H … Weber BH (Biochimica et biophysica acta 2002) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V … Wissinger B (BMC genomics 2007) 3 4 54
  4. Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma. (PMID: 26536348) Simpson HM … Banerjee A (PloS one 2015) 3 54
  5. Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice. (PMID: 19727342) Geisert EE … Williams RW (Molecular vision 2009) 3 54

Products for WDR17 Gene

Sources for WDR17 Gene