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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
  • 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 Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly and Cranioectodermal Dysplasia 2. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. GO annotations related to this gene include binding. An important paralog of this gene is TUB.

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

Regulatory Elements for WDR35 Gene

Enhancers for WDR35 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around WDR35 on UCSC Golden Path with GeneCards custom track

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 StructureGene Density

RefSeq DNA sequence for WDR35 Gene

Proteins for WDR35 Gene

  • 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

Proteomics data for WDR35 Gene at MOPED

Post-translational modifications for WDR35 Gene

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

Other Protein References for WDR35 Gene

Antibody Products

No data available for DME Specific Peptides for WDR35 Gene

Domains & Families for WDR35 Gene

Protein Domains for WDR35 Gene

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

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for WDR35 Gene COMPARTMENTS Subcellular localization image for WDR35 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for WDR35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030991 intraciliary transport particle A IEA,IDA 20889716
GO:0097542 ciliary tip TAS --
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

Interacting Proteins for WDR35 Gene

Gene Ontology (GO) - Biological Process for WDR35 Gene

None

No data available for SIGNOR curated interactions for WDR35 Gene

Drugs & Compounds for WDR35 Gene

No Compound Related Data Available

Transcripts for WDR35 Gene

Unigene Clusters for WDR35 Gene

WD repeat domain 35:
Representative Sequences:

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

mRNA expression in normal human tissues 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, MOPED, and MaxQB for WDR35 Gene



SOURCE GeneReport for Unigene cluster for WDR35 Gene Hs.205427

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

Protein tissue co-expression partners for WDR35 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia WDR35 35
  • 88.82 (n)
  • 89.7 (a)
dog
(Canis familiaris)
Mammalia WDR35 35
  • 91.42 (n)
  • 94.16 (a)
WDR35 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr35 35
  • 86.72 (n)
  • 92.37 (a)
Wdr35 16
Wdr35 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDR35 35
  • 99.49 (n)
  • 99.49 (a)
WDR35 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr35l 35
  • 85.91 (n)
  • 92.73 (a)
oppossum
(Monodelphis domestica)
Mammalia WDR35 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves WDR35 35
  • 80.79 (n)
  • 86.04 (a)
WDR35 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR35 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr35 35
  • 75.84 (n)
  • 82.9 (a)
zebrafish
(Danio rerio)
Actinopterygii wdr35 35
  • 71.63 (n)
  • 79.42 (a)
wdr35 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011562 35
  • 52.44 (n)
  • 50.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta Oseg4 35
  • 54.3 (n)
  • 50.61 (a)
Oseg4 36
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ifta-1 35
  • 48.17 (n)
  • 34.7 (a)
ifta-1 36
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5919 36
  • 60 (a)
OneToOne
Species with no ortholog for WDR35:
  • 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
VAR_053428 -
rs1191778 - 19,931,318(+) TCTGT(C/T)CATGG nc-transcript-variant, reference, missense
rs2293669 -, - 19,933,460(+) AAATG(C/G/T)AGTCA nc-transcript-variant, reference, missense
VAR_064581 Cranioectodermal dysplasia 2 (CED2)
VAR_064582 Cranioectodermal dysplasia 2 (CED2)

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

Variant ID Type Subtype PubMed ID
esv29979 CNV Loss 17803354
dgv4067n71 CNV Gain 21882294
nsv873714 CNV Gain 21882294
nsv873715 CNV Gain 21882294
nsv521619 CNV Loss 19592680
nsv527453 CNV Gain 19592680
esv273450 CNV Insertion 20981092

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

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

Disorders for WDR35 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 7 with or without polydactyly
  • short rib-polydactyly syndrome, type v
cranioectodermal dysplasia 2
  • ced2
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
ellis-van creveld syndrome
  • chondroectodermal dysplasia
- 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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Novel Cul3 binding proteins function to remodel E3 ligase complexes. (PMID: 25011449) Wimuttisuk W. … Singer J.D. (BMC Cell Biol. 2014) 3

Products for WDR35 Gene

Sources for WDR35 Gene

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