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WDR35 Gene(Protein Coding)

WD Repeat Domain 35

GCID:
GC02M019867
GIFtS:
53
Genes Participants
UDN Logo

Aliases for WDR35 Gene

Aliases for WDR35 Gene

  • WD Repeat Domain 35 2 3 5
  • Intraflagellar Transport Protein 121 Homolog 3 4
  • IFT121 3 4
  • WD Repeat-Containing Protein 35 3
  • KIAA1336 4
  • Naofen 3
  • IFTA1 3
  • SRTD7 3
  • CED2 3

External Ids for WDR35 Gene

Previous GeneCards Identifiers for WDR35 Gene

  • GC02M020097
  • GC02M020031
  • GC02M020110

Summaries for WDR35 Gene

Entrez Gene Summary for WDR35 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]

GeneCards Summary for WDR35 Gene

WDR35 (WD Repeat Domain 35) is a Protein Coding gene. Diseases associated with WDR35 include Cranioectodermal Dysplasia 2 and Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. GO annotations related to this gene include binding. An important paralog of this gene is TULP4.

UniProtKB/Swiss-Prot for WDR35 Gene

  • Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Required for ciliogenesis. May promote CASP3 activation and TNF-stimulated apoptosis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR35 Gene

Genomics for WDR35 Gene

Products:

  1. Regulatory Element

Regulatory Elements for WDR35 Gene

Enhancers for WDR35 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F020090 1.3 Ensembl ENCODE 12.1 -102.9 -102881 4.9 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GATA2 ZNF143 FOS MATN3 ENSG00000234378 WDR35 LOC101928222 RNU6-961P RNU7-113P LOC105373463 GC02M020086
GH02F019988 1.1 ENCODE 8.1 +0.1 98 2.2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PAF1 ZNF263 SP3 TTC32 MATN3 LAPTM4A WDR35 RNFT1P1
GH02F019899 1.2 ENCODE 7.4 +88.5 88520 3.6 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TTC32 LINC01376 MATN3 WDR35 LOC105373462 LINC00954
GH02F019931 1 Ensembl ENCODE 7.6 +56.7 56659 3.3 ELF3 SOX5 MTA2 SAP130 TEAD1 JUN TBX21 EP300 TEAD3 JUND TTC32 MATN3 WDR35 GC02P019954
GH02F020004 0.9 ENCODE 8.4 -15.4 -15366 2.7 ATF1 MLX ARID4B THRB ZSCAN9 RAD21 RARA SLC30A9 SCRT2 CREM WDR35 TTC32 LOC105373463 MATN3 LOC101928222
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WDR35 on UCSC Golden Path with GeneCards custom track

Promoters for WDR35 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000121680 231 2201 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PAF1 ZNF263 SP3

Transcription factor binding sites by QIAGEN in the WDR35 gene promoter:

Genomic Location for WDR35 Gene

Chromosome:
2
Start:
19,910,260 bp from pter
End:
19,990,131 bp from pter
Size:
79,872 bases
Orientation:
Minus strand

Genomic View for WDR35 Gene

Genes around WDR35 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR35 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR35 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for WDR35 Gene

Proteins for WDR35 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for WDR35 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2L0-WDR35_HUMAN
    Recommended name:
    WD repeat-containing protein 35
    Protein Accession:
    Q9P2L0
    Secondary Accessions:
    • B3KVI5
    • Q4ZG01
    • Q8NE11

    Protein attributes for WDR35 Gene

    Size:
    1181 amino acids
    Molecular mass:
    133547 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A). Interacts with IFT43.
    SequenceCaution:
    • Sequence=BAA92574.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR35 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR35 Gene

Protein Expression for WDR35 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for WDR35 Gene

  • Ubiquitination at Lys 776 and Lys 815
  • Modification sites at PhosphoSitePlus

Other Protein References for WDR35 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WDR35 Gene

Domains & Families for WDR35 Gene

Gene Families for WDR35 Gene

HGNC:

Protein Domains for WDR35 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WDR35 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2L0

UniProtKB/Swiss-Prot:

WDR35_HUMAN :
  • Contains 6 WD repeats.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with WDR35: view

Function for WDR35 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for WDR35 Gene

UniProtKB/Swiss-Prot Function:
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Required for ciliogenesis. May promote CASP3 activation and TNF-stimulated apoptosis.
UniProtKB/Swiss-Prot Induction:
By TNF.

Gene Ontology (GO) - Molecular Function for WDR35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with WDR35: view
genes like me logo Genes that share phenotypes with WDR35: view

Human Phenotype Ontology for WDR35 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WDR35 Gene

MGI Knock Outs for WDR35:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WDR35 Gene

Localization for WDR35 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR35 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium axoneme. 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 WDR35 gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for WDR35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA,IBA --
genes like me logo Genes that share ontologies with WDR35: view

Pathways & Interactions for WDR35 Gene

genes like me logo Genes that share pathways with WDR35: view

Gene Ontology (GO) - Biological Process for WDR35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009636 response to toxic substance IEA --
GO:0010629 negative regulation of gene expression IEA --
GO:0030030 cell projection organization IEA --
GO:0032496 response to lipopolysaccharide IEA --
GO:0035721 intraciliary retrograde transport IMP 20889716
genes like me logo Genes that share ontologies with WDR35: view

No data available for SIGNOR curated interactions for WDR35 Gene

Drugs & Compounds for WDR35 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for WDR35 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for WDR35 Gene

(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(99) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WDR35 Gene

WD repeat domain 35:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR35 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: - -
SP3: - - -
SP4:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
SP1:
SP2:
SP3: - - -
SP4:

Relevant External Links for WDR35 Gene

GeneLoc Exon Structure for
WDR35
ECgene alternative splicing isoforms for
WDR35

Expression for WDR35 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR35 Gene

mRNA expression in normal human tissues for WDR35 Gene
mRNA expression by BioGPS for WDR35 GenemRNA expression by GTEx for WDR35 Gene

Protein differential expression in normal tissues from HIPED for WDR35 Gene

This gene is overexpressed in Testis (48.1) and Ovary (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR35 Gene



Protein tissue co-expression partners for WDR35 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDR35 Gene:

WDR35

SOURCE GeneReport for Unigene cluster for WDR35 Gene:

Hs.205427
genes like me logo Genes that share expression patterns with WDR35: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for WDR35 Gene

Orthologs for WDR35 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR35 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia WDR35 34 35
  • 99.49 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 92 (a)
 OneToMany
-- 35
  • 90 (a)
 OneToMany
-- 35
  • 89 (a)
 OneToMany
-- 35
  • 88 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia WDR35 34 35
  • 91.42 (n)
cow
(Bos Taurus)
 Mammalia WDR35 34
  • 88.82 (n)
mouse
(Mus musculus)
 Mammalia Wdr35 34 16 35
  • 86.72 (n)
rat
(Rattus norvegicus)
 Mammalia Wdr35l 34
  • 85.91 (n)
oppossum
(Monodelphis domestica)
 Mammalia WDR35 35
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves WDR35 34 35
  • 80.79 (n)
lizard
(Anolis carolinensis)
 Reptilia WDR35 35
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia wdr35 34
  • 75.84 (n)
zebrafish
(Danio rerio)
 Actinopterygii wdr35 34 35
  • 71.63 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Oseg4 34 35
  • 54.3 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011562 34
  • 52.44 (n)
worm
(Caenorhabditis elegans)
 Secernentea ifta-1 34 35
  • 48.17 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5919 35
  • 60 (a)
 OneToOne
Species where no ortholog for WDR35 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)

Evolution for WDR35 Gene

ENSEMBL:
Gene Tree for WDR35 (if available)
TreeFam:
Gene Tree for WDR35 (if available)

Paralogs for WDR35 Gene

Paralogs for WDR35 Gene

(1) SIMAP similar genes for WDR35 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with WDR35: view

Variants for WDR35 Gene

Sequence variations from dbSNP and Humsavar for WDR35 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs267607174 Cranioectodermal dysplasia 2 (CED2) [MIM:613610], Pathogenic 19,945,787(-) TCCTG(A/G)GGTAA nc-transcript-variant, reference, missense
rs267607175 Cranioectodermal dysplasia 2 (CED2) [MIM:613610], Pathogenic 19,933,469(-) AACAA(A/G)CAGTG nc-transcript-variant, reference, missense
rs431905505 Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091], Pathogenic 19,973,664(-) TCCAG(C/T)GGAAC nc-transcript-variant, reference, missense
rs199952377 Pathogenic 19,941,796(+) TTTCT(A/C)AATCC intron-variant, nc-transcript-variant, reference, stop-gained
rs387907085 Pathogenic 19,946,495(-) ATTGT(C/G/T)GAGCC nc-transcript-variant, reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for WDR35 Gene

Variant ID Type Subtype PubMed ID
dgv3736n100 CNV gain 25217958
esv29979 CNV loss 17803354
esv3309177 CNV mobile element insertion 20981092
esv3394706 CNV insertion 20981092
nsv473392 CNV novel sequence insertion 20440878
nsv521619 CNV loss 19592680
nsv527453 CNV gain 19592680

Variation tolerance for WDR35 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.82; 94.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WDR35 Gene

Human Gene Mutation Database (HGMD)
WDR35
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR35

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR35 Gene

Disorders for WDR35 Gene

MalaCards: The human disease database

(10) MalaCards diseases for WDR35 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cranioectodermal dysplasia 2
  • ced2
short-rib thoracic dysplasia 7 with or without polydactyly
  • short rib-polydactyly syndrom type v
camurati engelmann disease, type 2
  • cranioectodermal dysplasia 2
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
- elite association - COSMIC cancer census association via MalaCards
Search WDR35 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WDR35_HUMAN
  • Cranioectodermal dysplasia 2 (CED2) [MIM:613610]: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth. {ECO:0000269 PubMed:20817137}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. {ECO:0000269 PubMed:21473986}. Note=The disease is caused by mutations affecting the gene represented in this entry. WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRTD7 patients lacking WDR35 fail to produce cilia (PubMed:21473986). {ECO:0000269 PubMed:21473986}.

Relevant External Links for WDR35

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WDR35
genes like me logo Genes that share disorders with WDR35: view

No data available for Genatlas for WDR35 Gene

Publications for WDR35 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. (PMID: 21473986) Mill P. … Amor D.J. (Am. J. Hum. Genet. 2011) 3 4 64
  3. Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis. (PMID: 20193664) Feng G.G. … Ishikawa N. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
  4. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. (PMID: 20817137) Gilissen C. … Brunner H.G. (Am. J. Hum. Genet. 2010) 3 4 64
  5. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PMID: 20889716) Mukhopadhyay S. … Jackson P.K. (Genes Dev. 2010) 3 4 64

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