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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
  • 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 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. Gene Ontology (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.

Additional gene information for WDR35 Gene

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

Genomics for WDR35 Gene

GeneHancer (GH) Regulatory Elements for WDR35 Gene

Promoters and enhancers for WDR35 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
GH02I019988 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.1 +0.1 97 2.2 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 WDR35 LOC101928222 TTC32 MATN3 RNFT1P1
GH02I020065 Enhancer 1.3 Ensembl ENCODE dbSUPER 35.2 -75.9 -75854 1.9 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF48 FOS SP5 ZNF662 TTC32 WDR35 LINC01376 PUM2 MATN3 ENSG00000234378 LOC105373463 GC02M020086
GH02I020566 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11 -584.0 -583976 14.5 PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 PUM2 TTC32 RHOB GDF7 ENSG00000228950 WDR35 RNU6-961P HS1BP3-IT1 HS1BP3 ENSG00000269976
GH02I019899 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7.4 +88.5 88520 3.6 CLOCK DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 SSRP1 ZNF610 TTC32 ENSG00000271991 MATN3 LINC00954 PUM2 WDR35
GH02I020090 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.1 -102.9 -102881 4.9 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 SLC30A9 TCF12 GATA2 FOS GC02M020086 MATN3 ENSG00000234378 WDR35 LOC101928222 RNU6-961P RNU7-113P LOC105373463
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WDR35 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for WDR35 Gene

Genomic Locations for WDR35 Gene
chr2:19,910,260-19,990,131
(GRCh38/hg38)
Size:
79,872 bases
Orientation:
Minus strand
chr2:20,110,021-20,189,892
(GRCh37/hg19)

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

Post-translational modifications for WDR35 Gene

  • Ubiquitination at posLast=776776 and isoforms=2815

Other Protein References for WDR35 Gene

No data available for DME Specific Peptides for WDR35 Gene

Domains & Families for WDR35 Gene

Gene Families for WDR35 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for WDR35 Gene

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.

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:

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0005813 centrosome ISS,IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IBA,TAS --
GO:0005930 axoneme ISS,IEA --
genes like me logo Genes that share ontologies with WDR35: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WDR35 Gene

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for WDR35 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR35 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • pancreas
Pelvis:
  • pelvis
  • penis
  • placenta
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with WDR35: view

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 33 34
  • 99.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia WDR35 33 34
  • 91.42 (n)
cow
(Bos Taurus)
Mammalia WDR35 33
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Wdr35 33 16 34
  • 86.72 (n)
rat
(Rattus norvegicus)
Mammalia Wdr35l 33
  • 85.91 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR35 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR35 33 34
  • 80.79 (n)
lizard
(Anolis carolinensis)
Reptilia WDR35 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr35 33
  • 75.84 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr35 33 34
  • 71.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oseg4 33 34
  • 54.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011562 33
  • 52.44 (n)
worm
(Caenorhabditis elegans)
Secernentea ifta-1 33 34
  • 48.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5919 34
  • 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 Variation AA Info Type
rs10182866 likely-benign, Cranioectodermal dysplasia, Short Rib Polydactyly Syndrome 19,912,069(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs10197890 likely-benign, Cranioectodermal dysplasia, Short Rib Polydactyly Syndrome 19,912,508(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1056233 benign, Short Rib Polydactyly Syndrome, Cranioectodermal dysplasia 19,913,327(-) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1060742 likely-benign, Cranioectodermal dysplasia, Multiple Epiphyseal Dysplasia, Dominant, Short Rib Polydactyly Syndrome 19,989,254(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs112569580 likely-benign, Short Rib Polydactyly Syndrome, Cranioectodermal dysplasia 19,911,150(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(14) MalaCards diseases for WDR35 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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}.

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. (PMID: 21473986) Mill P … Amor DJ (American journal of human genetics 2011) 3 4 58
  3. Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis. (PMID: 20193664) Feng GG … Ishikawa N (Biochemical and biophysical research communications 2010) 3 4 58
  4. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. (PMID: 20817137) Gilissen C … Brunner HG (American journal of human genetics 2010) 3 4 58
  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 PK (Genes & development 2010) 3 4 58

Products for WDR35 Gene

Sources for WDR35 Gene

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