Free for academic non-profit institutions. Other users need a Commercial license

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 Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly and Cranioectodermal Dysplasia 1. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for IFT52 Gene

  • Involved in ciliogenesis as 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 (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).

Additional gene information for IFT52 Gene

No data available for CIViC summary , 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
GH20H043656 1.8 FANTOM5 Ensembl ENCODE 28.1 +67.1 67067 2.8 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 IFT52 MYBL2 JPH2 SGK2 OSER1 SRSF6 L3MBTL1 GC20P043655
GH20H043456 2.2 ENCODE 19.6 -132.4 -132397 3.4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 SRSF6 L3MBTL1 IFT52 RPL27AP ENSG00000237555 LINC01728 LOC101927138 GC20P043474
GH20H044173 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.2 +591.2 591174 15.7 HDGF PKNOX1 MLX SIN3A YBX1 DMAP1 TCF12 ZNF121 ZNF302 ZNF207 SRSF6 L3MBTL1 IFT52 JPH2 FITM2 OSER1 SGK2 OSER1-AS1 GC20P044130
GH20H043680 1.3 Ensembl ENCODE dbSUPER 24.1 +91.5 91491 2.8 CTCF TBL1XR1 BACH1 ZKSCAN1 RELA POLR2A EED SCRT2 ZNF143 ATF7 IFT52 MYBL2 GC20M043632
GH20H043583 1.2 Ensembl ENCODE 24.2 -6.1 -6057 2.6 ATF1 FOXA2 TCF12 ZNF766 ELK1 FOS ATF7 ZNF592 KAT8 NFIL3 IFT52 MYBL2 SRSF6 GC20P043584 SGK2
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000137396 287 1401 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Locations for IFT52 Gene

Genomic Locations for IFT52 Gene
56,684 bases
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:
    Recommended name:
    Intraflagellar transport protein 52 homolog
    Protein Accession:
    Secondary Accessions:
    • B3KMA1
    • E1P5W9
    • Q5H8Z0
    • Q9H1G3
    • Q9H1G4
    • Q9H1H2

    Protein attributes for IFT52 Gene

    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). Interacts with TTC25 (PubMed:25860617).

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IFT52 Gene

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:
Involved in ciliogenesis as 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 (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).

Phenotypes From GWAS Catalog for IFT52 Gene

Gene Ontology (GO) - Molecular Function for IFT52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27173435
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

Human Phenotype Ontology for IFT52 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for IFT52 Gene

miRTarBase miRNAs that target IFT52

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 IFT52 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
peroxisome 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS --
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

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

Drugs & Compounds for IFT52 Gene

No Compound Related Data Available

Transcripts for IFT52 Gene

Unigene Clusters for IFT52 Gene

Intraflagellar transport 52 homolog (Chlamydomonas):
Representative Sequences:

Clone 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: -

Relevant External Links for IFT52 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IFT52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for IFT52 Gene:


Evidence on tissue expression from TISSUES for IFT52 Gene

  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with IFT52: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia IFT52 33 34
  • 99.54 (n)
(Canis familiaris)
Mammalia IFT52 33 34
  • 91.69 (n)
(Bos Taurus)
Mammalia IFT52 33 34
  • 89.25 (n)
(Monodelphis domestica)
Mammalia IFT52 34
  • 89 (a)
(Mus musculus)
Mammalia Ift52 33 16 34
  • 88.89 (n)
(Rattus norvegicus)
Mammalia Ift52 33
  • 87.95 (n)
(Ornithorhynchus anatinus)
Mammalia IFT52 34
  • 84 (a)
(Gallus gallus)
Aves IFT52 33 34
  • 74.62 (n)
(Anolis carolinensis)
Reptilia IFT52 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ift52 33
  • 74.65 (n)
Str.20368 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.26052 33
(Danio rerio)
Actinopterygii ift52 33 34
  • 72.53 (n)
Dr.15827 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12948 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008725 33
  • 53.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta osm-6 33 34
  • 50.39 (n)
(Caenorhabditis elegans)
Secernentea osm-6 33 34
  • 50.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.200 33
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

Gene Tree for IFT52 (if available)
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
VAR_077805 Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) [MIM:617102]
rs748090019 Pathogenic 43,605,012(+) TTAGC(C/T)GAGCT reference, stop-gained, utr-variant-5-prime
rs886037869 Pathogenic 43,613,959(+) TTTTG(A/G)CTTTC reference, missense, utr-variant-5-prime
rs886037870 Pathogenic 43,624,000(+) CGACC(-/T)GTCCA reference, frameshift-variant
rs1000068752 -- 43,626,576(+) ATGAA(C/T)CTTTT intron-variant

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

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for IFT52 Gene

MalaCards: The human disease database

(5) MalaCards diseases for IFT52 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 16 with or without polydactyly
  • srtd16
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
asphyxiating thoracic dystrophy
  • jeune syndrome
cleft lip/palate
  • alveolar cleft lip and palate
- elite association - COSMIC cancer census association via MalaCards
Search IFT52 in MalaCards View complete list of genes associated with diseases


  • Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) [MIM:617102]: 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:26880018, ECO:0000269 PubMed:27466190}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IFT52

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

No data available for 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 CH … Lin W (Genome research 2000) 2 3 4 60
  2. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. (PMID: 26880018) Girisha KM … Rolfs A (Clinical genetics 2016) 3 4 60
  3. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. (PMID: 27466190) Zhang W … Cohn DH (Human molecular genetics 2016) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for IFT52 Gene

Sources for IFT52 Gene

Loading form....