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Aliases for IFT52 Gene

Aliases for IFT52 Gene

  • Intraflagellar Transport 52 2 3 5
  • Protein NGD5 Homolog 3 4
  • C20orf9 3 4
  • NGD5 3 4
  • Intraflagellar Transport 52 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 52 Homolog 3
  • Chromosome 20 Open Reading Frame 9 2
  • CGI-53 3
  • NGD2 3

External Ids for IFT52 Gene

Previous HGNC Symbols for IFT52 Gene

  • C20orf9

Previous GeneCards Identifiers for IFT52 Gene

  • GC20P041653
  • GC20P042219
  • GC20P038955

Summaries for IFT52 Gene

Entrez Gene Summary for IFT52 Gene

  • This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]

GeneCards Summary for IFT52 Gene

IFT52 (Intraflagellar Transport 52) is a Protein Coding gene. Diseases associated with IFT52 include Cranioectodermal Dysplasia 1 and Ciliopathy. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for IFT52 Gene

  • Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT52 Gene

Genomics for IFT52 Gene

Regulatory Elements for IFT52 Gene

Enhancers for IFT52 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
GH20F043656 1.3 FANTOM5 Ensembl ENCODE 28.1 +67.1 67067 2.8 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DEK IFT52 MYBL2 SGK2 OSER1 SRSF6 L3MBTL1 GC20P043655
GH20F043589 0.2 ENCODE 24.6 +0.2 187 2.0 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 IFT52 MYBL2 OSER1 RPL27AP
GH20F043583 1.4 Ensembl ENCODE 24.2 -6.1 -6057 2.6 ZNF48 ELK1 FOS KAT8 MIER3 ATF4 SMARCA4 MYNN KDM1A ZNF792 IFT52 MYBL2 GC20P043584 SGK2
GH20F043680 0.9 Ensembl ENCODE 24.1 +91.5 91491 2.8 CTCF MXI1 WRNIP1 ASH2L ZKSCAN1 RELA POLR2A SCRT2 EED ETV6 IFT52 MYBL2 GC20M043632
GH20F043669 0.4 Ensembl 24 +78.9 78864 0.6 JUND ATF3 ZNF133 ZBTB33 IFT52 MYBL2 GC20M043632
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IFT52 on UCSC Golden Path with GeneCards custom track

Promoters for IFT52 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000009608 287 1801 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for IFT52 Gene

Chromosome:
20
Start:
43,590,613 bp from pter
End:
43,647,296 bp from pter
Size:
56,684 bases
Orientation:
Plus strand

Genomic View for IFT52 Gene

Genes around IFT52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT52 Gene

Proteins for IFT52 Gene

  • Protein details for IFT52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y366-IFT52_HUMAN
    Recommended name:
    Intraflagellar transport protein 52 homolog
    Protein Accession:
    Q9Y366
    Secondary Accessions:
    • B3KMA1
    • E1P5W9
    • Q5H8Z0
    • Q9H1G3
    • Q9H1G4
    • Q9H1H2

    Protein attributes for IFT52 Gene

    Size:
    437 amino acids
    Molecular mass:
    49706 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity).

neXtProt entry for IFT52 Gene

Post-translational modifications for IFT52 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT52 Gene

Domains & Families for IFT52 Gene

Gene Families for IFT52 Gene

Protein Domains for IFT52 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT52 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IFT52: view

No data available for UniProtKB/Swiss-Prot for IFT52 Gene

Function for IFT52 Gene

Molecular function for IFT52 Gene

UniProtKB/Swiss-Prot Function:
Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia.

Gene Ontology (GO) - Molecular Function for IFT52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008022 protein C-terminus binding ISS --
genes like me logo Genes that share ontologies with IFT52: view
genes like me logo Genes that share phenotypes with IFT52: view

Animal Model Products

miRNA for IFT52 Gene

miRTarBase miRNAs that target IFT52

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IFT52 Gene

Localization for IFT52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT52 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT52 Gene COMPARTMENTS Subcellular localization image for IFT52 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for IFT52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IEA --
GO:0005814 centriole IEA --
GO:0005929 cilium IEA --
GO:0030992 intraciliary transport particle B ISS --
GO:0031514 motile cilium ISS --
genes like me logo Genes that share ontologies with IFT52: view

Pathways & Interactions for IFT52 Gene

genes like me logo Genes that share pathways with IFT52: view

Interacting Proteins for IFT52 Gene

Gene Ontology (GO) - Biological Process for IFT52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001841 neural tube formation IEA --
GO:0001947 heart looping IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0009953 dorsal/ventral pattern formation IEA --
genes like me logo Genes that share ontologies with IFT52: view

No data available for SIGNOR curated interactions for IFT52 Gene

Transcripts for IFT52 Gene

Unigene Clusters for IFT52 Gene

Intraflagellar transport 52 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT52 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: -
SP3:

Relevant External Links for IFT52 Gene

GeneLoc Exon Structure for
IFT52
ECgene alternative splicing isoforms for
IFT52

Expression for IFT52 Gene

mRNA expression in normal human tissues for IFT52 Gene

Protein differential expression in normal tissues from HIPED for IFT52 Gene

This gene is overexpressed in Adipocyte (25.8), Testis (16.5), and Platelet (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT52 Gene



NURSA nuclear receptor signaling pathways regulating expression of IFT52 Gene:

IFT52

SOURCE GeneReport for Unigene cluster for IFT52 Gene:

Hs.444332
genes like me logo Genes that share expression patterns with IFT52: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for IFT52 Gene

Orthologs for IFT52 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT52 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT52 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia IFT52 34 35
  • 91.69 (n)
cow
(Bos Taurus)
Mammalia IFT52 34 35
  • 89.25 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT52 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift52 34 16 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Ift52 34
  • 87.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IFT52 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT52 34 35
  • 74.62 (n)
lizard
(Anolis carolinensis)
Reptilia IFT52 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift52 34
  • 74.65 (n)
Str.20368 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26052 34
zebrafish
(Danio rerio)
Actinopterygii ift52 34 35
  • 72.53 (n)
Dr.15827 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12948 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008725 34
  • 53.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta osm-6 34 35
  • 50.39 (n)
worm
(Caenorhabditis elegans)
Secernentea osm-6 34 35
  • 50.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.200 34
Species where no ortholog for IFT52 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 IFT52 Gene

ENSEMBL:
Gene Tree for IFT52 (if available)
TreeFam:
Gene Tree for IFT52 (if available)

Paralogs for IFT52 Gene

No data available for Paralogs for IFT52 Gene

Variants for IFT52 Gene

Sequence variations from dbSNP and Humsavar for IFT52 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs748090019 Pathogenic 43,605,012(+) TTAGC(C/T)GAGCT reference, stop-gained, utr-variant-5-prime
rs10523117 -- 43,641,050(+) AAAAA(-/AAAAA)GGAAG intron-variant
rs10557881 -- 43,629,355(+) GCAAG(-/CTCC)GCCTC intron-variant
rs10646057 -- 43,612,707(+) CAAAA(-/CAAT)ACAAA intron-variant
rs10651507 -- 43,612,710(+) AACAA(-/TCAA)ACAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT52 Gene

Variant ID Type Subtype PubMed ID
dgv2253n106 CNV deletion 24896259
dgv7581n54 CNV loss 21841781
esv1009985 CNV gain 20482838
esv23525 CNV gain 19812545
esv2470167 CNV deletion 19546169
esv2677667 CNV deletion 23128226
esv3557103 CNV deletion 23714750
esv3557104 CNV deletion 23714750
esv3645885 CNV loss 21293372
nsv1057847 CNV loss 25217958
nsv1073060 CNV deletion 25765185
nsv1111211 CNV tandem duplication 24896259
nsv1114217 CNV deletion 24896259
nsv3385 CNV deletion 18451855
nsv498971 CNV loss 21111241
nsv512617 CNV loss 21212237
nsv514938 CNV gain+loss 21397061
nsv586032 CNV gain 21841781
nsv586033 CNV gain 21841781
nsv586034 CNV loss 21841781
nsv586035 CNV loss 21841781
nsv821137 CNV deletion 20802225

Variation tolerance for IFT52 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT52 Gene

Human Gene Mutation Database (HGMD)
IFT52
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT52 Gene

Disorders for IFT52 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IFT52 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
ciliopathy
- elite association - COSMIC cancer census association via MalaCards
Search IFT52 in MalaCards View complete list of genes associated with diseases

Relevant External Links for IFT52

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFT52
genes like me logo Genes that share disorders with IFT52: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFT52 Gene

Publications for IFT52 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. (PMID: 26880018) Girisha K.M. … Rolfs A. (Clin. Genet. 2016) 3 64

Products for IFT52 Gene

Sources for IFT52 Gene

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