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Aliases for WDR19 Gene

Aliases for WDR19 Gene

  • WD Repeat Domain 19 2 3 5
  • Intraflagellar Transport 144 Homolog 3 4
  • IFT144 3 4
  • Intraflagellar Transport 144 Homolog (Chlamydomonas) 2
  • WD Repeat Membrane Protein PWDMP 3
  • WD Repeat-Containing Protein 19 3
  • KIAA1638 4
  • NPHP13 3
  • Orf26 3
  • DYF-2 3
  • Oseg6 3
  • PWDMP 3
  • SRTD5 3
  • CED4 3
  • ATD5 3

External Ids for WDR19 Gene

Previous GeneCards Identifiers for WDR19 Gene

  • GC00U991193
  • GC04P039006
  • GC04P038860
  • GC04P038508

Summaries for WDR19 Gene

Entrez Gene Summary for WDR19 Gene

  • The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for WDR19 Gene

WDR19 (WD Repeat Domain 19) is a Protein Coding gene. Diseases associated with WDR19 include Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly and Cranioectodermal Dysplasia 4. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR.

UniProtKB/Swiss-Prot for WDR19 Gene

  • Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR19 Gene

Genomics for WDR19 Gene

Regulatory Elements for WDR19 Gene

Enhancers for WDR19 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
GH04G039352 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +171.7 171650 3.2 PKNOX1 YY1 CBX5 ZNF143 JUNB TBX21 SMARCA4 NBN STAT3 HNF4A RNU6-887P KLB RNU6-32P WDR19 RFC1 ENSG00000249685
GH04G039151 0.7 FANTOM5 18.9 -30.9 -30881 0.1 POLR2H ATF3 CEBPB TRIM24 CEBPG ZNF518A WDR19 ENSG00000249207 FAM114A1 MIR574 TLR6 TLR1 ENSG00000249685
GH04G039134 1.1 Ensembl ENCODE 9.5 -47.0 -46955 1.1 ELF3 HDGF RB1 WRNIP1 ARID4B SIN3A ZNF2 RAD21 ZNF143 ZNF207 RNU6-32P RFC1 FAM114A1 MIR574 TLR1 TLR6 WDR19 KLHL5 ENSG00000249685
GH04G040178 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +998.1 998102 4.5 BCOR HDGF JUN ETV1 ZMYM3 CEBPG CHAMP1 ARID3A GATA2 EED CHRNA9 RBM47 RNU7-74P WDR19 RHOH ENSG00000260296
GH04G039254 0.9 Ensembl ENCODE 8.1 +73.7 73729 2.4 CTCF ZNF146 JUN RAD21 ZFHX2 JUND GATA3 GATA2 FOXK2 POLR2A RNU6-32P RFC1 RNU6-887P KLB WDR19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WDR19 on UCSC Golden Path with GeneCards custom track

Promoters for WDR19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167597 511 2201 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A YY1 SLC30A9 ZNF143 ZNF207

Genomic Location for WDR19 Gene

Chromosome:
4
Start:
39,182,189 bp from pter
End:
39,285,810 bp from pter
Size:
103,622 bases
Orientation:
Plus strand

Genomic View for WDR19 Gene

Genes around WDR19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR19 Gene

Proteins for WDR19 Gene

  • Protein details for WDR19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEZ3-WDR19_HUMAN
    Recommended name:
    WD repeat-containing protein 19
    Protein Accession:
    Q8NEZ3
    Secondary Accessions:
    • B5MEF2
    • Q8N5B4
    • Q9H5S0
    • Q9HCD4

    Protein attributes for WDR19 Gene

    Size:
    1342 amino acids
    Molecular mass:
    151581 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A) (PubMed:20889716). Interacts with BBS1 (By similarity). Interacts with TTC25 (PubMed:25860617).
    SequenceCaution:
    • Sequence=AAH32578.1; Type=Frameshift; Positions=421; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR19 Gene

Post-translational modifications for WDR19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WDR19 Gene

Domains & Families for WDR19 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WDR19: view

No data available for UniProtKB/Swiss-Prot for WDR19 Gene

Function for WDR19 Gene

Molecular function for WDR19 Gene

UniProtKB/Swiss-Prot Function:
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity).
UniProtKB/Swiss-Prot Induction:
By androgenic hormones. Expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells.
genes like me logo Genes that share phenotypes with WDR19: view

Human Phenotype Ontology for WDR19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for WDR19 Gene

miRTarBase miRNAs that target WDR19

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR19 Gene

Localization for WDR19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR19 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Note=Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells. {ECO:0000250 UniProtKB:Q3UGF1}.

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 WDR19 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for WDR19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium TAS --
genes like me logo Genes that share ontologies with WDR19: view

Pathways & Interactions for WDR19 Gene

genes like me logo Genes that share pathways with WDR19: view

Gene Ontology (GO) - Biological Process for WDR19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0008406 gonad development IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with WDR19: view

No data available for SIGNOR curated interactions for WDR19 Gene

Drugs & Compounds for WDR19 Gene

No Compound Related Data Available

Transcripts for WDR19 Gene

Unigene Clusters for WDR19 Gene

WD repeat domain 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR19 Gene

No ASD Table

Relevant External Links for WDR19 Gene

GeneLoc Exon Structure for
WDR19
ECgene alternative splicing isoforms for
WDR19

Expression for WDR19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR19 Gene

Protein differential expression in normal tissues from HIPED for WDR19 Gene

This gene is overexpressed in Plasma (22.6), Bone marrow stromal cell (21.7), Heart (8.2), and Ovary (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR19 Gene



NURSA nuclear receptor signaling pathways regulating expression of WDR19 Gene:

WDR19

SOURCE GeneReport for Unigene cluster for WDR19 Gene:

Hs.438482

mRNA Expression by UniProt/SwissProt for WDR19 Gene:

Q8NEZ3-WDR19_HUMAN
Tissue specificity: Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells.

Evidence on tissue expression from TISSUES for WDR19 Gene

  • Nervous system(4.4)
  • Eye(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR19 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
  • pituitary gland
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urinary bladder
  • 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
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with WDR19: 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 Protein tissue co-expression partners for WDR19 Gene

Orthologs for WDR19 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR19 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia WDR19 34 35
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia WDR19 34 35
  • 90.31 (n)
mouse
(Mus musculus)
Mammalia Wdr19 34 16 35
  • 86.18 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR19 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr19 34
  • 85.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WDR19 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR19 34 35
  • 78.06 (n)
lizard
(Anolis carolinensis)
Reptilia WDR19 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii wdr19 34 35
  • 70.77 (n)
Dr.20003 34
fruit fly
(Drosophila melanogaster)
Insecta Oseg6 34 35
  • 50.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010418 34
  • 35.92 (n)
worm
(Caenorhabditis elegans)
Secernentea dyf-2 34 35
  • 49.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14432 34
Species where no ortholog for WDR19 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for WDR19 Gene

ENSEMBL:
Gene Tree for WDR19 (if available)
TreeFam:
Gene Tree for WDR19 (if available)

Paralogs for WDR19 Gene

(1) SIMAP similar genes for WDR19 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with WDR19: view

No data available for Paralogs for WDR19 Gene

Variants for WDR19 Gene

Sequence variations from dbSNP and Humsavar for WDR19 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs199812132 Senior-Loken syndrome 8 (SLSN8) [MIM:616307] 39,205,660(+) AGGCT(C/G/T)GTAAC nc-transcript-variant, reference, missense
rs387906980 Pathogenic, Cranioectodermal dysplasia 4 (CED4) [MIM:614378], Senior-Loken syndrome 8 (SLSN8) [MIM:616307] 39,231,943(+) GTCCT(C/T)GGAAC nc-transcript-variant, reference, missense
rs387906982 Pathogenic, Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376] 39,185,739(+) CTCAC(C/T)GCTAG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs387906983 Pathogenic, Nephronophthisis 13 (NPHP13) [MIM:614377] 39,215,913(+) TCATG(G/T)TTTCC nc-transcript-variant, reference, missense
rs587777349 Pathogenic, Senior-Loken syndrome 8 (SLSN8) [MIM:616307] 39,218,103(+) GTACA(C/G)ATGTA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WDR19 Gene

Variant ID Type Subtype PubMed ID
dgv1474e212 CNV loss 25503493
esv2424590 CNV deletion 19546169
esv2615856 CNV deletion 19546169

Variation tolerance for WDR19 Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.72; 73.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WDR19 Gene

Human Gene Mutation Database (HGMD)
WDR19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR19 Gene

Disorders for WDR19 Gene

MalaCards: The human disease database

(17) MalaCards diseases for WDR19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 5 with or without polydactyly
  • asphyxiating thoracic dystrophy 5
cranioectodermal dysplasia 4
  • sensenbrenner syndrome 4
nephronophthisis 13
  • nphp13
senior-loken syndrome 8
  • slsn8
asphyxiating thoracic dystrophy
  • jeune syndrome
- elite association - COSMIC cancer census association via MalaCards
Search WDR19 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WDR19_HUMAN
  • Cranioectodermal dysplasia 4 (CED4) [MIM:614378]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. {ECO:0000269 PubMed:22019273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephronophthisis 13 (NPHP13) [MIM:614377]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269 PubMed:22019273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Senior-Loken syndrome 8 (SLSN8) [MIM:616307]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269 PubMed:23559409, ECO:0000269 PubMed:23683095}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376]: 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:22019273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WDR19

Genetic Association Database (GAD)
WDR19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WDR19
genes like me logo Genes that share disorders with WDR19: view

No data available for Genatlas for WDR19 Gene

Publications for WDR19 Gene

  1. Isolation and characterization of human and mouse WDR19,a novel WD- repeat protein exhibiting androgen-regulated expression in prostate epithelium. (PMID: 12906858) Lin B. … Nelson P.S. (Genomics 2003) 2 3 4 22 64
  2. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (PMID: 22019273) Bredrup C. … Arts H.H. (Am. J. Hum. Genet. 2011) 2 3 4 64
  3. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. (PMID: 23559409) Halbritter J. … Otto E.A. (Hum. Genet. 2013) 3 4 64
  4. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. (PMID: 23683095) Coussa R.G. … Koenekoop R.K. (Clin. Genet. 2013) 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

Products for WDR19 Gene

Sources for WDR19 Gene

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