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Aliases for WDR34 Gene

Aliases for WDR34 Gene

  • WD Repeat Domain 34 2 3 5
  • WD Repeat-Containing Protein 34 3
  • BA216B9.3 3
  • FAP133 3
  • SRTD11 3
  • DIC5 3

External Ids for WDR34 Gene

Previous GeneCards Identifiers for WDR34 Gene

  • GC09M126772
  • GC09M128475
  • GC09M130435
  • GC09M131395
  • GC09M101007

Summaries for WDR34 Gene

Entrez Gene Summary for WDR34 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. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]

GeneCards Summary for WDR34 Gene

WDR34 (WD Repeat Domain 34) is a Protein Coding gene. Diseases associated with WDR34 include Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is WDR78.

UniProtKB/Swiss-Prot for WDR34 Gene

  • Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at Thr-184 and Thr-187 upon Il-1 beta stimulation.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR34 Gene

Genomics for WDR34 Gene

Regulatory Elements for WDR34 Gene

Enhancers for WDR34 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
GH09G129594 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -940.1 -940055 3.8 HDGF HNRNPUL1 PKNOX1 MLX ARNT ZFP64 ARID4B DMAP1 SLC30A9 ZNF766 SPOUT1 LOC101929314 DOLK WDR34 PKN3 ENSG00000234055 PTPA IER5L CRAT NTMT1
GH09G129340 1.4 Ensembl ENCODE dbSUPER 11.7 -684.3 -684317 1.9 NFIB ZSCAN4 KLF17 GLI4 ZNF2 TCF12 ZNF121 ZSCAN5C ZNF207 ZNF548 SPOUT1 LOC101929314 URM1 PKN3 IER5L LOC105376289 WDR34 NTMT1 C9orf50 SPTAN1
GH09G127946 1.4 ENCODE dbSUPER 11.7 +707.8 707841 5.2 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PIP5KL1 ZNF79 SNORA65 NAIF1 COQ4 WDR34 DPM2 GC09P127942 FAM102A
GH09G128946 1.2 ENCODE 11.7 -290.8 -290837 2.2 HNRNPUL1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B LOC101929314 SPOUT1 SH3GLB2 COQ4 WDR34 USP20 ENSG00000234055 SLC25A25-AS1 LOC101929270 SPTAN1
GH09G128065 1.4 ENCODE dbSUPER 9.9 +589.3 589255 4.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ZFP64 ARID4B SIN3A ZBTB7B LOC101929314 ENSG00000272696 ANGPTL2 LOC102723566 RPL12 ZNF79 SPOUT1 ENSG00000272593 URM1 SPTAN1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WDR34 on UCSC Golden Path with GeneCards custom track

Promoters for WDR34 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241896 350 1401 MLX CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for WDR34 Gene

Chromosome:
9
Start:
128,633,661 bp from pter
End:
128,656,850 bp from pter
Size:
23,190 bases
Orientation:
Minus strand

Genomic View for WDR34 Gene

Genes around WDR34 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR34 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR34 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR34 Gene

Proteins for WDR34 Gene

  • Protein details for WDR34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EX3-WDR34_HUMAN
    Recommended name:
    WD repeat-containing protein 34
    Protein Accession:
    Q96EX3
    Secondary Accessions:
    • Q5VXV4
    • Q9BV46

    Protein attributes for WDR34 Gene

    Size:
    536 amino acids
    Molecular mass:
    57801 Da
    Quaternary structure:
    • Interacts (via the WD domains) with MAP3K7 and TAB3. Interacts (via WD domains) with TAB2 (via C-terminus). Interacts (via WD domains) with TRAF6 (via TRAF-type domains).

neXtProt entry for WDR34 Gene

Post-translational modifications for WDR34 Gene

  • Ubiquitination at Lys361
  • Modification sites at PhosphoSitePlus

Other Protein References for WDR34 Gene

No data available for DME Specific Peptides for WDR34 Gene

Domains & Families for WDR34 Gene

Gene Families for WDR34 Gene

Protein Domains for WDR34 Gene

Suggested Antigen Peptide Sequences for WDR34 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WDR34: view

No data available for UniProtKB/Swiss-Prot for WDR34 Gene

Function for WDR34 Gene

Molecular function for WDR34 Gene

UniProtKB/Swiss-Prot Function:
Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at Thr-184 and Thr-187 upon Il-1 beta stimulation.

Gene Ontology (GO) - Molecular Function for WDR34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0045503 dynein light chain binding IPI 25830415
genes like me logo Genes that share ontologies with WDR34: view
genes like me logo Genes that share phenotypes with WDR34: view

Human Phenotype Ontology for WDR34 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for WDR34 Gene

miRTarBase miRNAs that target WDR34

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR34 Gene

Localization for WDR34 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR34 Gene

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Note=Concentrates around the centrioles and basal bodies also showing axonemal staining. {ECO:0000250}.

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 WDR34 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 2
mitochondrion 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for WDR34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole ISS --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005868 cytoplasmic dynein complex IDA 25205765
genes like me logo Genes that share ontologies with WDR34: view

Pathways & Interactions for WDR34 Gene

genes like me logo Genes that share pathways with WDR34: view

Pathways by source for WDR34 Gene

Gene Ontology (GO) - Biological Process for WDR34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0060271 cilium assembly IGI 25205765
genes like me logo Genes that share ontologies with WDR34: view

No data available for SIGNOR curated interactions for WDR34 Gene

Transcripts for WDR34 Gene

Unigene Clusters for WDR34 Gene

WD repeat domain 34:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WDR34 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - -
SP8: - - - - - -
SP9: -
SP10: - - - -
SP11: - - - - -
SP12: - -
SP13: - - -
SP14:

ExUns: 8c ^ 9
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for WDR34 Gene

GeneLoc Exon Structure for
WDR34
ECgene alternative splicing isoforms for
WDR34

Expression for WDR34 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR34 Gene

Protein differential expression in normal tissues from HIPED for WDR34 Gene

This gene is overexpressed in Testis (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR34 Gene



Protein tissue co-expression partners for WDR34 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDR34 Gene:

WDR34

SOURCE GeneReport for Unigene cluster for WDR34 Gene:

Hs.495240

mRNA Expression by UniProt/SwissProt for WDR34 Gene:

Q96EX3-WDR34_HUMAN
Tissue specificity: Expressed in several cell lines (at protein level).

Evidence on tissue expression from TISSUES for WDR34 Gene

  • Lung(4.8)
  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR34 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
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with WDR34: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WDR34 Gene

Orthologs for WDR34 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR34 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR34 34 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia WDR34 34 35
  • 86.42 (n)
cow
(Bos Taurus)
Mammalia WDR34 34 35
  • 85.07 (n)
rat
(Rattus norvegicus)
Mammalia Wdr34 34
  • 81.56 (n)
mouse
(Mus musculus)
Mammalia Wdr34 34 16 35
  • 81.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WDR34 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR34 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR34 34 35
  • 65.32 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr34 34
  • 61.51 (n)
zebrafish
(Danio rerio)
Actinopterygii dync2i1 34 35
  • 54.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13930 35
  • 13 (a)
OneToMany
Dic61B 35
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToOne
Species where no ortholog for WDR34 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 WDR34 Gene

ENSEMBL:
Gene Tree for WDR34 (if available)
TreeFam:
Gene Tree for WDR34 (if available)

Paralogs for WDR34 Gene

Paralogs for WDR34 Gene

genes like me logo Genes that share paralogs with WDR34: view

Variants for WDR34 Gene

Sequence variations from dbSNP and Humsavar for WDR34 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs587777091 Pathogenic, Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] 128,634,881(+) AGAAG(A/G)CCACT reference, missense
rs587777092 Pathogenic, Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] 128,634,842(+) CTTCC(A/G)TGCCC reference, missense
rs587777093 Pathogenic, Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] 128,634,259(+) GGGCC(A/G)CACTG reference, missense
rs587777094 Pathogenic, Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] 128,634,258(+) AGGGC(C/G/T)GCACT reference, missense
rs587777096 Pathogenic, Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633] 128,634,726(+) GGGAC(C/T)GCCGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WDR34 Gene

Variant ID Type Subtype PubMed ID
dgv1236n67 CNV loss 20364138
dgv12881n54 CNV gain 21841781
dgv4144n106 CNV deletion 24896259
esv1002903 CNV deletion 20482838
esv1498928 CNV deletion 17803354
esv2436971 CNV deletion 19546169
esv2591544 CNV loss 19546169
esv26596 CNV gain+loss 19812545
esv2677232 CNV deletion 23128226
esv2739075 CNV deletion 23290073
esv3545492 CNV deletion 23714750
esv3621812 CNV loss 21293372
nsv512119 CNV loss 21212237
nsv615384 CNV gain 21841781
nsv615385 CNV loss 21841781
nsv615387 CNV gain+loss 21841781
nsv615388 CNV loss 21841781
nsv615390 CNV gain 21841781
nsv819298 CNV loss 19587683
nsv820577 CNV deletion 20802225
nsv825097 CNV loss 20364138
nsv825099 CNV loss 20364138
nsv825100 CNV loss 20364138
nsv825103 CNV loss 20364138
nsv957095 CNV deletion 24416366

Variation tolerance for WDR34 Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WDR34 Gene

Human Gene Mutation Database (HGMD)
WDR34
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR34

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR34 Gene

Disorders for WDR34 Gene

MalaCards: The human disease database

(5) MalaCards diseases for WDR34 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 11 with or without polydactyly
  • srtd11
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
asphyxiating thoracic dystrophy
  • jeune syndrome
polydactyly
  • postaxial polydactyly
cleft lip/palate
  • alveolar cleft lip and palate
- elite association - COSMIC cancer census association via MalaCards
Search WDR34 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WDR34_HUMAN
  • Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]: 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. {ECO:0000269 PubMed:24183449, ECO:0000269 PubMed:24183451}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WDR34

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WDR34
genes like me logo Genes that share disorders with WDR34: view

No data available for Genatlas for WDR34 Gene

Publications for WDR34 Gene

  1. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. (PMID: 24183451) Schmidts M. … Mitchison H.M. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4- induced NF-kappaB activation pathway. (PMID: 19521662) Gao D. … Chen D.Y. (Cell. Mol. Life Sci. 2009) 2 3 4 64
  3. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-I_B pathway in cilia. (PMID: 24183449) Huber C. … Cormier-Daire V. (Am. J. Hum. Genet. 2013) 3 4 64
  4. A unified taxonomy for ciliary dyneins. (PMID: 21953912) Hom E.F. … King S.M. (Cytoskeleton (Hoboken) 2011) 2 3 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for WDR34 Gene

Sources for WDR34 Gene

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